Welcome to Paid Research Studies




  • Condition:   Congenital Diaphragmatic Hernia
    Intervention:   Biological: Autologous umbilical cord blood
    Sponsors:   The University of Texas Health Science Center, Houston;   Texas Medical Center Regenerative Medicine Consortium
    Recruiting

  • Conditions:   Leber Congenital Amaurosis 10;   Blindness;   Leber Congenital Amaurosis;   Vision Disorders;   Sensation Disorders;   Neurologic Manifestations;   Eye Diseases;   Eye Diseases, Hereditary;   Eye Disorders Congenital;   Retinal Disease
    Intervention:   Drug: QR-110
    Sponsor:   ProQR Therapeutics
    Not yet recruiting

  • Conditions:   Leber Congenital Amaurosis 10;   Blindness;   Leber Congenital Amaurosis;   Vision Disorders;   Sensation Disorders;   Neurologic Manifestations;   Eye Diseases;   Eye Diseases, Hereditary;   Eye Disorders Congenital;   Retinal Disease
    Interventions:   Drug: QR-110;   Other: Sham
    Sponsor:   ProQR Therapeutics
    Recruiting

  • Condition:   Sickle Cell Anemia
    Intervention:   Drug: Hydroxyurea
    Sponsors:   Children's Hospital Medical Center, Cincinnati;   Caribbean Institute for Health Research (CAIHR)
    Recruiting

  • Condition:   Leber's Congenital Amaurosis
    Interventions:   Drug: SAR439483;   Drug: SAR439483 Diluent Solution;   Drug: Prednisone;   Drug: Triamcinalone Acetonide;   Drug: 1% Prednisolone;   Drug: Trimethoprim/polymyxin B
    Sponsor:   Sanofi
    Not yet recruiting

  • Condition:   Congenital Deafness
    Intervention:   Behavioral: Phase duration
    Sponsor:   East Carolina University
    Not yet recruiting

  • Condition:   Congenital Muscular Torticollis
    Interventions:   Behavioral: Passive Stretching;   Behavioral: Perception-Action Approach
    Sponsors:   Rosalind Franklin University of Medicine and Science;   Rady Children's Hospital, San Diego
    Recruiting

  • Condition:   Congenital Muscular Torticollis
    Intervention:   Procedure: bipolar release
    Sponsor:   Mahidol University
    Recruiting

  • Condition:   Leber Congenital Amaurosis 10
    Intervention:   Drug: AGN-151587
    Sponsors:   Allergan;   Editas Medicine, Inc.
    Not yet recruiting

  • Condition:   Leber Congenital Amaurosis, Retinitis Pigmentosa
    Intervention:   Biological: Human primary Retinal Pigment Epithelial (HuRPE) cells
    Sponsors:   Eyecure Therapeutics Inc.;   Beijing Tongren Hospital
    Recruiting

  • Conditions:   Cytomegalovirus Congenital;   Hearing Loss;   Neurodevelopmental Disorders;   Immunogenicity;   Neonatal Death;   Stillbirth
    Intervention:  
    Sponsor:   University of Witwatersrand, South Africa
    Recruiting

  • Conditions:   Dyskeratosis Congenita;   Hoyeraal Hreidarsson Syndrome;   Revesz Syndrome;   Aplastic Anemia
    Interventions:   Biological: alemtuzumab;   Drug: Fludarabine;   Drug: Cyclosporins;   Drug: Mycophenolate mofetil
    Sponsors:   Boston Children’s Hospital;   Dana-Farber Cancer Institute;   Children's Hospital Medical Center, Cincinnati;   Children's Hospital Los Angeles;   Fred Hutchinson Cancer Research Center/University of Washington Cancer Consortium;   Baylor College of Medicine;   Children's Hospital of Philadelphia;   Memorial Sloan Kettering Cancer Center;   University of Wisconsin, Madison;   Karolinska University Hospital
    Recruiting

  • Condition:   Achromatopsia
    Intervention:   Biological: AGTC-402
    Sponsor:   Applied Genetic Technologies Corp
    Recruiting

  • Condition:   Congenital Hearing Loss
    Intervention:   Behavioral: Navigator Guidance
    Sponsors:   University of Kentucky;   National Institute on Deafness and Other Communication Disorders (NIDCD);   National Institutes of Health (NIH)
    Not yet recruiting

  • Conditions:   Blindness, Acquired;   Blindness Congenital
    Interventions:   Device: active tDCS;   Device: sham tDCS;   Other: Dynamic proprioceptive exercises;   Other: static proprioceptive exercises
    Sponsors:   Salgado Institute of Integral Health;   University of Nove de Julho
    Not yet recruiting

  • Condition:   Congenital Sensorineural Deafness
    Interventions:   Behavioral: Telemedicine;   Behavioral: In-person ART
    Sponsors:   University of Colorado, Denver;   National Institute on Deafness and Other Communication Disorders (NIDCD);   University of Colorado, Boulder
    Recruiting

  • Condition:   Cytomegalovirus Infection
    Interventions:   Other: Placebo;   Drug: Valganciclovir
    Sponsor:   National Institute of Allergy and Infectious Diseases (NIAID)
    Recruiting

  • Conditions:   Erythromelalgia;   Pain Insensitivity, Congenital;   Hereditary Sensory and Autonomic Neuropathies;   Chronic Pain
    Intervention:   Other: Observation
    Sponsors:   King's College London;   University of Oxford;   Neuroscience Technologies S.L.P
    Recruiting

  • Conditions:   Cerebral Palsy;   Neurologic Disorder;   Chromosome Abnormality;   Spina Bifida
    Interventions:   Device: Lite Run Gait Trainer;   Other: Usual Treatments
    Sponsors:   Gillette Children's Specialty Healthcare;   Lite Run Inc.
    Recruiting

  • Condition:   Achromatopsia
    Intervention:   Biological: rAAV2tYF-PR1.7-hCNGB3
    Sponsors:   Applied Genetic Technologies Corp;   National Eye Institute (NEI)
    Recruiting

  • Conditions:   Positilonal Deformation of the Skull;   Congenital Torticollis;   Head Turn Preference;   Axial Hypertony
    Intervention:   Procedure: manual therapy/osteopathy
    Sponsor:   University Hospital, Montpellier
    Not yet recruiting

  • Conditions:   Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
    Intervention:  
    Sponsor:   Foundation Fighting Blindness
    Recruiting

  • Conditions:   Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence;   Cornelia De Lange Syndrome;   Prenatal Benign Hypophosphatasia;   Perinatal Lethal Hypophosphatasia;   Odontohypophosphatasia;   Adult Hypophosphatasia;   Childhood-onset Hypophosphatasia;   Infantile Hypophosphatasia;   Hypophosphatasia;   Kabuki Syndrome;   Bohring-Opitz Syndrome;   Narcolepsy Without Cataplexy;   Narcolepsy-cataplexy;   Hypersomnolence Disorder;   Idiopathic Hypersomnia Without Long Sleep Time;   Idiopathic Hypersomnia With Long Sleep Time;   Idiopathic Hypersomnia;   Kleine-Levin Syndrome;   Kawasaki Disease;   Leiomyosarcoma;   Leiomyosarcoma of the Corpus Uteri;   Leiomyosarcoma of the Cervix Uteri;   Leiomyosarcoma of Small Intestine;   Acquired Myasthenia Gravis;   Addison Disease;   Hyperacusis (Hyperacousis);   Juvenile Myasthenia Gravis;   Transient Neonatal Myasthenia Gravis;   Williams Syndrome;   Lyme Disease;   Myasthenia Gravis;   Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome);   Isolated Klippel-Feil Syndrome;   Frasier Syndrome;   Denys-Drash Syndrome;   Beckwith-Wiedemann Syndrome;   Emanuel Syndrome;   Isolated Aniridia;   Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11;   Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15;   Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion;   Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication;   Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion;   Axenfeld-Rieger Syndrome;   Aniridia-intellectual Disability Syndrome;   Aniridia - Renal Agenesis - Psychomotor Retardation;   Aniridia - Ptosis - Intellectual Disability - Familial Obesity;   Aniridia - Cerebellar Ataxia - Intellectual Disability;   Aniridia - Absent Patella;   Aniridia;   Peters Anomaly - Cataract;   Peters Anomaly;   Potocki-Shaffer Syndrome;   Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11;   Silver-Russell Syndrome Due to Imprinting Defect of 11p15;   Silver-Russell Syndrome Due to 11p15 Microduplication;   Syndromic Aniridia;   WAGR Syndrome;   Wolf-Hirschhorn Syndrome;   4p16.3 Microduplication Syndrome;   4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome;   Autosomal Recessive Stickler Syndrome;   Stickler Syndrome Type 2;   Stickler Syndrome Type 1;   Stickler Syndrome;   Mucolipidosis Type 4;   X-linked Spinocerebellar Ataxia Type 4;   X-linked Spinocerebellar Ataxia Type 3;   X-linked Intellectual Disability - Ataxia - Apraxia;   X-linked Progressive Cerebellar Ataxia;   X-linked Non Progressive Cerebellar Ataxia;   X-linked Cerebellar Ataxia;   Vitamin B12 Deficiency Ataxia;   Toxic Exposure Ataxia;   Unclassified Autosomal Dominant Spinocerebellar Ataxia;   Thyroid Antibody Ataxia;   Sporadic Adult-onset Ataxia of Unknown Etiology;   Spinocerebellar Ataxia With Oculomotor Anomaly;   Spinocerebellar Ataxia With Epilepsy;   Spinocerebellar Ataxia With Axonal Neuropathy Type 2;   Spinocerebellar Ataxia Type 8;   Spinocerebellar Ataxia Type 7;   Spinocerebellar Ataxia Type 6;   Spinocerebellar Ataxia Type 5;   Spinocerebellar Ataxia Type 4;   Spinocerebellar Ataxia Type 37;   Spinocerebellar Ataxia Type 36;   Spinocerebellar Ataxia Type 35;   Spinocerebellar Ataxia Type 34;   Spinocerebellar Ataxia Type 32;   Spinocerebellar Ataxia Type 31;   Spinocerebellar Ataxia Type 30;   Spinocerebellar Ataxia Type 3;   Spinocerebellar Ataxia Type 29;   Spinocerebellar Ataxia Type 28;   Spinocerebellar Ataxia Type 27;   Spinocerebellar Ataxia Type 26;   Spinocerebellar Ataxia Type 25;   Spinocerebellar Ataxia Type 23;   Spinocerebellar Ataxia Type 22;   Spinocerebellar Ataxia Type 21;   Spinocerebellar Ataxia Type 20;   Spinocerebellar Ataxia Type 2;   Spinocerebellar Ataxia Type 19/22;   Spinocerebellar Ataxia Type 18;   Spinocerebellar Ataxia Type 17;   Spinocerebellar Ataxia Type 16;   Spinocerebellar Ataxia Type 15/16;   Spinocerebellar Ataxia Type 14;   Spinocerebellar Ataxia Type 13;   Spinocerebellar Ataxia Type 12;   Spinocerebellar Ataxia Type 11;   Spinocerebellar Ataxia Type 10;   Spinocerebellar Ataxia Type 1 With Axonal Neuropathy;   Spinocerebellar Ataxia Type 1;   Spinocerebellar Ataxia - Unknown;   Spinocerebellar Ataxia - Dysmorphism;   Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Spectrin-associated Autosomal Recessive Cerebellar Ataxia;   Spasticity-ataxia-gait Anomalies Syndrome;   Spastic Ataxia With Congenital Miosis;   Spastic Ataxia - Corneal Dystrophy;   Spastic Ataxia;   Rare Hereditary Ataxia;   Rare Ataxia;   Recessive Mitochondrial Ataxia Syndrome;   Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Posterior Column Ataxia - Retinitis Pigmentosa;   Post-Stroke Ataxia;   Post-Head Injury Ataxia;   Post Vaccination Ataxia;   Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract;   Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus;   Non-progressive Cerebellar Ataxia With Intellectual Disability;   Non-hereditary Degenerative Ataxia;   Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity;   Olivopontocerebellar Atrophy - Deafness;   NARP Syndrome;   Myoclonus - Cerebellar Ataxia - Deafness;   Multiple System Atrophy, Parkinsonian Type;   Multiple System Atrophy, Cerebellar Type;   Multiple System Atrophy;   Maternally-inherited Leigh Syndrome;   Machado-Joseph Disease Type 3;   Machado-Joseph Disease Type 2;   Machado-Joseph Disease Type 1;   Lethal Ataxia With Deafness and Optic Atrophy;   Leigh Syndrome;   Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema;   Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination;   Leigh Syndrome With Nephrotic Syndrome;   Leigh Syndrome With Leukodystrophy;   Leigh Syndrome With Cardiomyopathy;   Late-onset Ataxia With Dementia;   Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome;   Infection or Post Infection Ataxia;   Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia;   Infantile Onset Spinocerebellar Ataxia;   GAD Ataxia;   Hereditary Episodic Ataxia;   Gliadin/Gluten Ataxia;   Friedreich Ataxia;   Fragile X-associated Tremor/Ataxia Syndrome;   Familial Paroxysmal Ataxia;   Exposure to Medications Ataxia;   Episodic Ataxia With Slurred Speech;   Episodic Ataxia Unknown Type;   Episodic Ataxia Type 7;   Episodic Ataxia Type 6;   Episodic Ataxia Type 5;   Episodic Ataxia Type 4;   Episodic Ataxia Type 3;   Episodic Ataxia Type 1;   Epilepsy and/or Ataxia With Myoclonus as Major Feature;   Early-onset Spastic Ataxia-neuropathy Syndrome;   Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity;   Early-onset Cerebellar Ataxia With Retained Tendon Reflexes;   Early-onset Ataxia With Dementia;   Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia;   Dilated Cardiomyopathy With Ataxia;   Cataract - Ataxia - Deafness;   Cerebellar Ataxia, Cayman Type;   Cerebellar Ataxia With Peripheral Neuropathy;   Cerebellar Ataxia - Hypogonadism;   Cerebellar Ataxia - Ectodermal Dysplasia;   Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss;   Brain Tumor Ataxia;   Brachydactyly - Nystagmus - Cerebellar Ataxia;   Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia;   Autosomal Recessive Syndromic Cerebellar Ataxia;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;   Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria;   Autosomal Recessive Spastic Ataxia;   Autosomal Recessive Metabolic Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine;   Autosomal Recessive Ataxia, Beauce Type;   Autosomal Recessive Ataxia Due to Ubiquinone Deficiency;   Autosomal Recessive Ataxia Due to PEX10 Deficiency;   Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia;   Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia;   Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome;   Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity;   Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency;   Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect;   Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion;   Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation;   Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness;   Autosomal Recessive Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly;   Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation;   Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy;   Autosomal Dominant Spastic Ataxia Type 1;   Autosomal Dominant Spastic Ataxia;   Autosomal Dominant Optic Atrophy;   Ataxia-telangiectasia Variant;   Ataxia-telangiectasia;   Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy;   Autosomal Dominant Cerebellar Ataxia Type 4;   Autosomal Dominant Cerebellar Ataxia Type 3;   Autosomal Dominant Cerebellar Ataxia Type 2;   Autosomal Dominant Cerebellar Ataxia Type 1;   Autosomal Dominant Cerebellar Ataxia;   Ataxia-telangiectasia-like Disorder;   Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome;   Ataxia-deafness-intellectual Disability Syndrome;   Ataxia With Vitamin E Deficiency;   Ataxia With Dementia;   Ataxia Neuropathy Spectrum;   Ataxia - Tapetoretinal Degeneration;   Ataxia - Photosensitivity - Short Stature;   Ataxia - Pancytopenia;   Ataxia - Oculomotor Apraxia Type 1;   Ataxia - Hypogonadism - Choroidal Dystrophy;   Ataxia - Other;   Ataxia - Genetic Diagnosis - Unknown;   Acquired Ataxia;   Adult-onset Autosomal Recessive Cerebellar Ataxia;   Alcohol Related Ataxia;   Multiple Endocrine Neoplasia;   Multiple Endocrine Neoplasia Type II;   Multiple Endocrine Neoplasia Type 1;   Multiple Endocrine Neoplasia Type 2;   Multiple Endocrine Neoplasia, Type IV;   Multiple Endocrine Neoplasia, Type 3;   Multiple Endocrine Neoplasia (MEN) Syndrome;   Multiple Endocrine Neoplasia Type 2B;   Multiple Endocrine Neoplasia Type 2A;   Atypical Hemolytic Uremic Syndrome;   Atypical HUS;   Wiedemann-Steiner Syndrome;   Breast Implant-Associated Anaplastic Large Cell Lymphoma;   Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA);   Hemophagocytic Lymphohistiocytosis;   Behcet's Disease;   Alagille Syndrome;   Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD);   Lowe Syndrome;   Pitt Hopkins Syndrome;   1p36 Deletion Syndrome;   Jansen Type Metaphyseal Chondrodysplasia;   Cockayne Syndrome;   Chronic Recurrent Multifocal Osteomyelitis;   CRMO;   Malan Syndrome;   Hereditary Sensory and Autonomic Neuropathy Type Ie
    Intervention:  
    Sponsors:   Sanford Health;   National Ataxia Foundation;   International WAGR Syndrome Association;   4p- Support Group;   ML4 Foundation;   Cornelia de Lange Syndrome Foundation;   Stickler Involved People;   Kawasaki Disease Foundation;   Klippel-Feil Syndrome Alliance;   Klippel-Feil Syndrome Freedom;   Hyperacusis Research Limited;   Hypersomnia Foundation;   Kabuki Syndrome Network;   Kleine-Levin Syndrome Foundation;   Leiomyosarcoma Direct Research Foundation;   Marinesco-Sjogren Syndrome Support Group;   Mucolipidosis Type IV (ML4) Foundation;   People with Narcolepsy 4 People with Narcolepsy (PWN4PWN);   Soft Bones Incorporated;   American Multiple Endocrine Neoplasia Support;   Atypical Hemolytic Uremic Syndrome Foundation;   All Things Kabuki;   Wiedemann-Steiner Syndrome Foundation;   Breast Implant Victim Advocates;   PROS Foundation;   American Behcet's Disease Association
    Recruiting

  • Condition:   Cerebral Palsy
    Interventions:   Drug: Botulinum toxin type A;   Other: Upper extremity orthoses;   Other: Home exercise program
    Sponsor:   Kocaeli University
    Recruiting

  • Condition:   Down Syndrome
    Interventions:   Diagnostic Test: Funduscopic examination and retinal photography;   Diagnostic Test: Serum levels of endostatin and angiogenesis factors;   Diagnostic Test: Renal and low urinary tract Doppler ultrasound;   Diagnostic Test: Urinalysis;   Diagnostic Test: Anthropometric measures and vitals signs
    Sponsor:   Queen Fabiola Children's University Hospital
    Recruiting

  • Conditions:   Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome;   Ciliopathy
    Intervention:  
    Sponsor:   National Human Genome Research Institute (NHGRI)
    Recruiting

  • Conditions:   Epilepsy; Seizure;   Neuromuscular Diseases;   Brain Malformation;   Intellectual Disability;   Autism Spectrum Disorder;   Hypotonia;   Inborn Errors of Metabolism;   Movement Disorders;   Genetic Disease;   Development Delay;   Chromosome Abnormality;   Hearing Loss;   Dysmorphic Features;   Skeletal Dysplasia;   Congenital Abnormality;   Microcephaly;   Macrocephaly
    Interventions:   Behavioral: Pre-visit prep;   Diagnostic Test: usual care + exome seq
    Sponsors:   University of North Carolina, Chapel Hill;   National Human Genome Research Institute (NHGRI);   East Carolina University;   Mission Health System, Asheville, NC
    Recruiting

  • Conditions:   Brain Injuries;   Congenital Heart Disease;   Newborn;   Intraventricular Hemorrhage;   Meningitis;   Seizures;   Sepsis;   Hypoxic-Ischemic Encephalopathy;   Prematurity;   Errors Metabolism, Inborn;   Brain Malformation
    Intervention:   Other: Brain monitoring using PBSF protocol
    Sponsor:   Protecting Brains Saving Futures
    Not yet recruiting

  • Conditions:   Encephalopathy;   Birth Defect;   Intellectual Disability;   Multiple Congenital Anomaly;   Metabolic Disease;   Epilepsy;   Neuro-Degenerative Disease;   Cerebral Palsy;   Developmental Delay;   Developmental Defect
    Intervention:   Diagnostic Test: Whole Exome Sequencing
    Sponsors:   University of California, San Francisco;   National Human Genome Research Institute (NHGRI)
    Recruiting

  • Conditions:   Syringomyelia;   Arnold Chiari Deformity
    Intervention:  
    Sponsor:   National Institute of Neurological Disorders and Stroke (NINDS)
    Recruiting

  • Conditions:   Myotonic Dystrophy;   Congenital Myotonic Dystrophy;   Myotonic Dystrophy 1;   Myotonic Dystrophy 2;   Dystrophia Myotonica;   Dystrophia Myotonica 1;   Dystrophia Myotonica 2;   Myotonia Dystrophica;   Myotonic Dystrophy, Congenital;   Myotonic Myopathy, Proximal;   PROMM (Proximal Myotonic Myopathy);   Proximal Myotonic Myopathy;   Steinert Disease;   Steinert Myotonic Dystrophy;   Steinert's Disease;   Myotonia Atrophica
    Intervention:   Other: Patient-entered data
    Sponsor:   Myotonic Dystrophy Foundation
    Recruiting

  • Conditions:   Retinitis Pigmentosa;   Usher Syndrome Type 2;   Deaf Blind;   Retinal Disease;   Eye Diseases;   Eye Diseases, Hereditary;   Eye Disorders Congenital;   Vision Disorders
    Interventions:   Drug: QR-421a;   Other: Sham-procedure
    Sponsor:   ProQR Therapeutics
    Recruiting

  • Conditions:   Dexamethasone;   Hip Dysplasia;   Postoperative Pain;   Postoperative Nausea and Vomiting
    Interventions:   Drug: Dexamethasone 24mg Solution for Injection;   Drug: Saline Solution for Injection
    Sponsors:   Odense University Hospital;   Odense Patient Data Explorative Network
    Not yet recruiting

  • Conditions:   Fragile X Syndrome;   Fragile X Mental Retardation Syndrome;   Mental Retardation, X-Linked;   Genetic Diseases, X-Linked;   Trinucleotide Repeat Expansion;   Fra(X) Syndrome;   Intellectual Disability;   FXS;   Neurobehavioral Manifestations;   Sex Chromosome Disorders
    Interventions:   Drug: Placebo Medication;   Drug: Metformin
    Sponsors:   University of Alberta;   St. Justine's Hospital
    Not yet recruiting

  • Conditions:   Fragile X Syndrome;   Fragile X Mental Retardation Syndrome;   Mental Retardation, X Linked;   Genetic Diseases, X-Linked;   Trinucleotide Repeat Expansion;   Fra(X) Syndrome;   Intellectual Disability;   FXS;   Neurobehavioral Manifestations;   Sex Chromosome Disorders
    Interventions:   Drug: Placebo Medication;   Drug: Metformin
    Sponsor:   University of California, Davis
    Recruiting

  • Conditions:   Hearing Loss;   Hearing Disorders;   Hearing Abnormality;   Hearing Disability;   Tinnitus
    Intervention:   Device: HearMe Smartphone Application
    Sponsor:   Kasra Zarei
    Not yet recruiting

  • Condition:   Epilepsy and Focal Cortical Dysplasia II
    Intervention:   Drug: Afinitor (everolimus)
    Sponsor:   Yonsei University
    Recruiting

  • Condition:   Pregnancy
    Intervention:   Diagnostic Test: cfDNA screening
    Sponsor:   University Hospital Tuebingen
    Recruiting

  • Conditions:   CCM;   Cavernoma;   Cerebral Cavernous Malformation;   Cerebral Cavernous Malformations 1;   Cerebral Cavernous Malformations 2;   Cerebral Cavernous Malformations 3;   Cavernous Angioma
    Intervention:  
    Sponsors:   University of Chicago;   Mayo Clinic;   Johns Hopkins University;   University of California, San Francisco;   National Institute of Neurological Disorders and Stroke (NINDS);   University of Utah;   University of New Mexico;   Barrow Neurological Institute
    Recruiting

  • Condition:   Primary Ciliary Dyskinesia
    Intervention:   Other: There is no intervention
    Sponsor:   Vanderbilt University Medical Center
    Recruiting

  • Condition:   Primary Ciliary Dyskinesia
    Intervention:   Other: nNO testing
    Sponsor:   Vanderbilt University Medical Center
    Recruiting

  • Conditions:   Primary Ciliary Dyskinesia;   Kartagener Syndrome
    Intervention:  
    Sponsor:   University of Bern
    Recruiting

  • Conditions:   Primary Ciliary Dyskinesia;   Kartagener Syndrome
    Intervention:  
    Sponsors:   University of Bern;   European Commission;   Swiss National Science Foundation;   University of Southampton;   Pierre and Marie Curie University;   Bar-Ilan University, Israel;   University of Padova;   University Hospital, Gasthuisberg;   Oslo University Hospital;   VU University Medical Center;   Royal Brompton & Harefield NHS Foundation Trust;   Marmara University;   Ruhr University of Bochum;   Genetic Disorders of Mucociliary Clearance Consortium;   Institute of Tuberculosis and Lung Disorders, Rabka Poland;   University of Sydney;   Copenhagen University Hospital, Denmark;   University Hospital Muenster;   Hannover Medical School;   Hospital de Niños R. Gutierrez de Buenos Aires;   University of Cyprus;   Medical Centre Dr Dragisa Misovic;   Hacettepe University;   University Hospital, Motol;   Clinica de neumologia pediatrica Compensar;   Attikon Hospital;   University of Leicester
    Recruiting

  • Condition:   Primary Ciliary Dyskinesia
    Intervention:  
    Sponsor:   University of Alberta
    Recruiting

  • Conditions:   Primary Ciliary Dyskinesia;   Kartagener Syndrome;   Immotile Cilia Syndrome
    Interventions:   Other: Home based therapy;   Other: Game and home based therapy
    Sponsor:   Hacettepe University
    Not yet recruiting

  • Conditions:   Bronchiectasis Idiopathic;   Cystic Fibrosis;   Primary Ciliary Dyskinesia
    Intervention:   Diagnostic Test: Whole genome sequencing
    Sponsor:   Seoul National University Hospital
    Recruiting

  • Conditions:   Cystic Fibrosis;   Primary Ciliary Dyskinesia
    Intervention:   Diagnostic Test: Middle meatus aspirations and sputum
    Sponsor:   Centre Hospitalier Intercommunal Creteil
    Recruiting

  • Conditions:   Down Syndrome;   Edwards Syndrome;   Patau Syndrome;   Klinefelter Syndrome;   Turner Syndrome;   DiGeorge Syndrome;   Perinatal Infections
    Intervention:   Other: Observational - no intervention
    Sponsor:   Progenity, Inc.
    Recruiting

  • Conditions:   Cystic Fibrosis;   COPD;   PCD - Primary Ciliary Dyskinesia
    Intervention:  
    Sponsors:   University of Alabama at Birmingham;   Massachusetts General Hospital
    Recruiting

  • Conditions:   Trisomy 21;   Trisomy 18;   Trisomy 13;   Sex Chromosome Abnormalities;   Microdeletion Syndromes
    Intervention:  
    Sponsor:   Natera, Inc.
    Recruiting

  • Conditions:   Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency Disease;   ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of;   Barth Syndrome
    Intervention:   Drug: triheptanoin
    Sponsors:   Gerard Vockley, MD, PhD;   Ultragenyx Pharmaceutical Inc
    Available

  • Condition:   Primary Ciliary Dyskinesia
    Intervention:  
    Sponsors:   University of North Carolina, Chapel Hill;   Office of Rare Diseases (ORD);   National Center for Research Resources (NCRR);   National Heart, Lung, and Blood Institute (NHLBI)
    Recruiting

  • Condition:   Kartagener Syndrome
    Intervention:  
    Sponsors:   University of North Carolina, Chapel Hill;   National Heart, Lung, and Blood Institute (NHLBI)
    Recruiting

  • Conditions:   Bone Marrow Failure Syndrome;   Thalassemia;   Sickle Cell Disease;   Diamond Blackfan Anemia;   Acquired Neutropenia in Newborn;   Acquired Anemia Hemolytic;   Acquired Thrombocytopenia;   Hemophagocytic Lymphohistiocytoses;   Wiskott-Aldrich Syndrome;   Chronic Granulomatous Disease;   Common Variable Immunodeficiency;   X-linked Lymphoproliferative Disease;   Severe Combined Immunodeficiency;   Hurler Syndrome;   Mannosidosis;   Adrenoleukodystrophy
    Interventions:   Drug: Thiotepa--single daily dose;   Drug: Thiotepa--escalated dose
    Sponsor:   University of Florida
    Recruiting

  • Conditions:   Adolescent Behavior;   Intellectual Disability;   Down Syndrome;   Physical Activity
    Interventions:   Behavioral: Group Exercise Sessions;   Behavioral: Individual Support Sessions;   Behavioral: Facebook Group
    Sponsors:   University of Kansas;   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Recruiting

  • Conditions:   Microcephaly;   Mental Retardation
    Intervention:   Other: Symptomatic pregnant women with positive RT-PCR ZIKV in serum or urine, or a positive serologic test specific for ZIKV
    Sponsors:   Universidad Industrial de Santander;   University of North Carolina, Chapel Hill;   Michigan State University
    Recruiting

  • Conditions:   Cluster Headache;   Cluster Headaches and Other Trigeminal Autonomic Cephalgias;   Paroxysmal Hemicrania;   SUNCT;   Hemicrania Continua;   Trigeminal Neuralgia
    Intervention:  
    Sponsor:   The University of Texas Health Science Center, Houston
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:   Behavioral: Safe and Sound Protocol
    Sponsors:   Indiana University;   Integrated Listening Systems
    Recruiting

  • Condition:   Pregnancy
    Intervention:   Other: Questionnaire passation
    Sponsor:   CHU de Reims
    Recruiting

  • Conditions:   Language Development Disorders;   Down Syndrome;   Child Language
    Intervention:   Behavioral: Semantic cues (perform action), syntactic cues (sentence frame), or combined semantic and syntactic cues
    Sponsor:   Vanderbilt University Medical Center
    Recruiting

  • Conditions:   Dentofacial Deformities;   Sleep Disorder;   Posture
    Intervention:   Other: polysomnography
    Sponsor:   Laboratoire de Biomécanique Georges Charpak
    Recruiting

  • Condition:   Sleep Disorder
    Interventions:   Other: Questionnaires;   Procedure: electroencephalogram (EEG);   Procedure: polysomnography;   Procedure: Actigraphy
    Sponsor:   Universitair Ziekenhuis Brussel
    Recruiting

  • Conditions:   Down Syndrome;   Trisomy 21
    Intervention:  
    Sponsors:   University of Colorado, Denver;   Linda Crnic Institute for Down Syndrome
    Recruiting

  • Conditions:   Developmental Disabilities;   Weight Loss;   Body Weight;   Down Syndrome;   Body Weight Changes;   Intellectual Disability
    Interventions:   Dietary Supplement: Enhanced Stop Light Diet (eSLD);   Dietary Supplement: Conventional Diet (CD);   Behavioral: Face-to-face (FTF);   Behavioral: Technology (TECH);   Other: iPad with FaceTime
    Sponsors:   University of Kansas Medical Center;   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Recruiting

  • Conditions:   Metabolism and Nutrition Disorder;   Obesity
    Interventions:   Drug: liraglutide;   Drug: placebo
    Sponsor:   Novo Nordisk A/S
    Recruiting

  • Conditions:   Microdeletion 3q29 Syndrome;   Microduplication 3q29 Syndrome
    Intervention:  
    Sponsor:   Emory University
    Recruiting

  • Condition:   Polycystic Kidney
    Intervention:   Drug: Lixivaptan
    Sponsor:   Palladio Biosciences
    Not yet recruiting

  • Conditions:   Electromyography;   EMG: Myopathy;   EMG Syndrome;   Pelvic Pain;   Pelvic Floor Disorders;   Pelvic Pain Syndrome;   ElectroPhys: Myopathy
    Intervention:   Drug: Clostridium botulinum type A (BoNTA)
    Sponsor:   Jose Alberola-Rubio
    Recruiting

  • Conditions:   Spina Bifida;   Urothelial Neoplasm;   Bladder, Neurogenic;   Bladder Exstrophy;   Hypospadias
    Intervention:   Procedure: Transurethral Resection of Prostate
    Sponsor:   Central Hospital, Nancy, France
    Not yet recruiting

  • Conditions:   Ehlers-Danlos Syndrome (EDS);   Complex Regional Pain Syndrome (CRPS);   Amplified Musculoskeletal Pain Syndrome (AMPS);   Low Back Pain;   Fibromyalgia;   Chronic Widespread Pain
    Interventions:   Behavioral: Two-point discrimination training;   Behavioral: One-point discrimination training
    Sponsor:   Children's Hospital Medical Center, Cincinnati
    Recruiting

  • Conditions:   Abdominal Pain;   Abdominal Cutaneous Nerve Entrapment Syndrome
    Intervention:   Procedure: Injection to or release of anterior cutaneous nerves
    Sponsors:   University of Aberdeen;   NHS Grampian
    Recruiting

  • Conditions:   Down Syndrome;   Speech and Language Disorder;   Speech Disorders in Children;   Speech Intelligibility;   Speech Sound Disorder
    Interventions:   Behavioral: AAC Generative Language Intervention;   Behavioral: Standard of Care / Business as Usual
    Sponsors:   University of Central Florida;   University of New Mexico;   National Institute on Deafness and Other Communication Disorders (NIDCD)
    Recruiting

  • Condition:   Cleft Palate
    Intervention:   Drug: Tisseel
    Sponsor:   University of Alberta
    Recruiting

  • Condition:   Pain, Postoperative
    Intervention:   Drug: Ropivacaine infusion
    Sponsor:   Boston Children’s Hospital
    Recruiting

  • Condition:   Down Syndrome
    Intervention:   Other: Nocturnal gaz exchanges measurement
    Sponsors:   Institut Jerome Lejeune;   Hôpital Armand Trousseau
    Not yet recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:   Other: Hippotherapy
    Sponsors:   Samsung Medical Center;   Samsung Electronics
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Drug: CBDV Compound;   Drug: Placebo
    Sponsors:   Montefiore Medical Center;   Foundation for Prader-Willi Research
    Not yet recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Dietary Supplement: Coenzyme Q10;   Other: Placebo
    Sponsors:   The Hospital for Sick Children;   Foundation for Prader-Willi Research
    Not yet recruiting

  • Conditions:   Prader-Willi Syndrome;   Hyperphagia
    Interventions:   Drug: Livoletide;   Drug: Placebo
    Sponsor:   Millendo Therapeutics SAS
    Recruiting

  • Condition:   Children With Down Syndrome
    Intervention:   Combination Product: Aerobic exercises and Vitamin D supplementation
    Sponsor:   Cairo University
    Recruiting

  • Conditions:   Down Syndrome;   Augmentative and Alternative Communication
    Interventions:   Device: AAC Technology - Standard of Care;   Device: AAC Technology - non-optimal integrated arrangement
    Sponsors:   Penn State University;   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Recruiting

  • Conditions:   Williams Syndrome;   Lipedema
    Intervention:  
    Sponsors:   Massachusetts General Hospital;   Lipedema Foundation;   Williams Syndrome Association
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:  
    Sponsors:   Zafgen, Inc.;   Foundation for Prader-Willi Research
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:   Drug: DCCR
    Sponsor:   Soleno Therapeutics, Inc.
    Recruiting

  • Conditions:   Stuttering;   Down Syndrome
    Intervention:   Behavioral: hand gestures
    Sponsors:   Universitaire Ziekenhuizen Leuven;   Marguerite-Marie Delacroix;   KU Leuven
    Not yet recruiting

  • Condition:   Down Syndrome, Trisomy 21
    Interventions:   Other: CO-OP;   Other: Conductive Education
    Sponsor:   Hülya Özbeşer
    Not yet recruiting

  • Conditions:   Down Syndrome;   Depression
    Intervention:   Behavioral: LTP in My Own Way Plus
    Sponsor:   Pakistan Institute of Living and Learning
    Not yet recruiting

  • Condition:   Down Syndrome, Trisomy 21
    Intervention:   Behavioral: JASPER
    Sponsor:   Boston Children’s Hospital
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Drug: intranasal carbetocin Dose 1;   Drug: intranasal carbetocin Dose 2;   Drug: placebo
    Sponsor:   Levo Therapeutics, Inc.
    Recruiting

  • Conditions:   Down Syndrome;   Fragile X Syndrome
    Interventions:   Dietary Supplement: EGCG FontUp;   Other: Placebo FontUp
    Sponsors:   Parc de Salut Mar;   Hospital Infantil Universitario Niño Jesús, Madrid, Spain;   Instituto Hispalense de Pediatría, Sevilla, Spain;   Hospital Universitario Marqués de Valdecilla;   Institut Jerome Lejeune
    Recruiting

  • Condition:   Down Syndrome
    Intervention:   Other: Hand grip exercise and lower body negative pressure
    Sponsor:   University of Illinois at Chicago
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:   Drug: Recombinant Human Growth Hormone (rhGH) Injection
    Sponsors:   GeneScience Pharmaceuticals Co., Ltd.;   Children's Hospital of Fudan University;   Tongji medical college huazhong university of science & technology;   Beijing Children's Hospital;   Peking University First Hospital;   Peking Union Medical College Hospital;   The Children's Hospital of Zhejiang University School of Medicine
    Recruiting

  • Conditions:   Down Syndrome;   Trisomy 21
    Intervention:   Behavioral: Watching a video
    Sponsor:   Advocate Health Care
    Recruiting

  • Conditions:   Down Syndrome;   Gross Motor Development Delay
    Intervention:   Other: Physical Therapy Home Program
    Sponsors:   Texas Woman's University;   American Physical Therapy Association
    Not yet recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:   Drug: Cannabidiol Oral Solution
    Sponsor:   INSYS Therapeutics Inc
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Drug: DCCR;   Drug: Placebo for DCCR
    Sponsor:   Soleno Therapeutics, Inc.
    Recruiting

  • Conditions:   Down Syndrome;   Intellectual Disability
    Interventions:   Drug: Memantine;   Drug: Placebo
    Sponsors:   University Hospitals Cleveland Medical Center;   Alana USA Foundation
    Recruiting

  • Conditions:   Hereditary Spastic Paraplegia;   Hereditary, Spastic Paraplegia, Autosomal Dominant
    Interventions:   Other: SPRS Score and clinical signs;   Behavioral: Cognition Testing using CANTAB;   Diagnostic Test: Lumbar Puncture and blood draw;   Diagnostic Test: MRI;   Diagnostic Test: Electrophysiology;   Diagnostic Test: Testing functional performance;   Diagnostic Test: Non motor symptoms
    Sponsor:   University Hospital Tuebingen
    Recruiting

  • Conditions:   Prader-Willi Syndrome;   Hyperphagia
    Interventions:   Drug: Intranasal Oxytocin (IN-OXT);   Drug: Matched Placebo
    Sponsor:   Montefiore Medical Center
    Recruiting

  • Condition:   Confirmed Genetic Diagnosis of Prader-Willi Syndrome
    Interventions:   Drug: Tesofensine/Metoprolol;   Drug: Placebos
    Sponsor:   Saniona
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Drug: Oxytocin;   Drug: Placebo
    Sponsor:   University Hospital, Toulouse
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Intervention:   Behavioral: Listening Project Protocol
    Sponsors:   Indiana University;   Latham Centers
    Recruiting

  • Conditions:   Williams Syndrome;   Anxiety
    Intervention:   Behavioral: Cognitive and Behavioral Therapy
    Sponsors:   University Hospital, Montpellier;   Fondation Jérôme Lejeune;   association autour des Williams;   réseau de santé Maladies Rares
    Not yet recruiting

  • Condition:   Fragile X Syndrome
    Intervention:   Drug: ZYN002 - CBD Transdermal Gel
    Sponsor:   Zynerba Pharmaceuticals, Inc.
    Recruiting

  • Condition:   Fragile X Syndrome
    Intervention:   Drug: Metformin
    Sponsors:   Université de Sherbrooke;   FRAXA Research Foundation
    Recruiting

  • Condition:   Fragile X Syndrome (FXS)
    Intervention:   Drug: OV101 (gaboxadol)
    Sponsor:   Ovid Therapeutics Inc.
    Recruiting

  • Condition:   Fragile X Syndrome
    Interventions:   Drug: ZYN002 - CBD Transdermal Gel;   Other: Placebo Transdermal Gel
    Sponsor:   Zynerba Pharmaceuticals, Inc.
    Recruiting

  • Condition:   Hereditary Spastic Paraplegia
    Intervention:  
    Sponsor:   National Institute of Neurological Disorders and Stroke (NINDS)
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Drug: Cannabidiol;   Drug: Placebo
    Sponsor:   INSYS Therapeutics Inc
    Recruiting

  • Conditions:   Fragile X Syndrome;   FXS;   Fra(X) Syndrome
    Interventions:   Drug: BPN14770;   Drug: Placebo
    Sponsor:   Tetra Discovery Partners
    Recruiting

  • Condition:   Prader-Willi Syndrome
    Interventions:   Drug: Oxytocin (OXT) continuous;   Drug: Placebo;   Drug: Placebo continuous;   Drug: Oxytocin
    Sponsor:   University Hospital, Toulouse
    Recruiting

  • Conditions:   B Acute Lymphoblastic Leukemia;   B Lymphoblastic Lymphoma;   Blasts More Than 25 Percent of Bone Marrow Nucleated Cells;   Down Syndrome
    Interventions:   Drug: Asparaginase Erwinia chrysanthemi;   Biological: Blinatumomab;   Drug: Cyclophosphamide;   Drug: Cytarabine;   Drug: Dexamethasone;   Drug: Doxorubicin;   Drug: Doxorubicin Hydrochloride;   Drug: Leucovorin;   Drug: Leucovorin Calcium;   Drug: Mercaptopurine;   Drug: Mercaptopurine Oral Suspension;   Drug: Methotrexate;   Drug: Prednisolone;   Drug: Prednisone;   Drug: Thioguanine;   Drug: Vincristine;   Drug: Vincristine Sulfate
    Sponsor:   National Cancer Institute (NCI)
    Not yet recruiting

  • Conditions:   Fragile X Syndrome;   Disruptive Behavior
    Intervention:   Behavioral: Behavior analytic treatment
    Sponsors:   Stanford University;   The John Merck Fund
    Recruiting

  • Conditions:   Down Syndrome;   Alzheimer Disease
    Intervention:   Procedure: Neuro-imaging, Lumbar puncture
    Sponsor:   Institut Jerome Lejeune
    Not yet recruiting

  • Condition:   Down Syndrome
    Interventions:   Biological: ACI-24 low dose;   Biological: ACI-24 high dose;   Biological: Placebo
    Sponsors:   AC Immune SA;   National Institute on Aging (NIA);   Alzheimer's Disease Cooperative Study (ADCS);   LuMind Research Down Syndrome Foundation
    Recruiting

  • Condition:   Usher Syndrome, Type 1B
    Intervention:  
    Sponsor:   Fondazione Telethon
    Recruiting

  • Conditions:   Phelan-McDermid Syndrome;   Autism Spectrum Disorder;   Intellectual Disability
    Intervention:   Other: No Intervention
    Sponsors:   Boston Children’s Hospital;   Phelan-McDermid Syndrome Foundation
    Recruiting

  • Conditions:   Cataract;   Down Syndrome
    Intervention:   Procedure: cataract surgery
    Sponsors:   University of Colorado, Denver;   Children's Hospital Colorado
    Recruiting

  • Conditions:   Obstructive Sleep Apnea;   Down Syndrome
    Intervention:   Diagnostic Test: Sleep study
    Sponsor:   Oregon Health and Science University
    Recruiting

  • Condition:   Down Syndrome
    Intervention:   Device: photographs
    Sponsors:   Kevin Cleary;   Children's Research Institute;   George Washington University;   Chiang Mai University
    Recruiting

  • Condition:   Wolfram Syndrome
    Interventions:   Drug: Sodium Valproate 200Mg E/C Tablet;   Drug: Sodium Valproate matched placebo
    Sponsor:   University of Birmingham
    Recruiting

  • Condition:   Down Syndrome
    Intervention:   Device: High definition transcranial direct current stimulation
    Sponsor:   University of Wisconsin, Madison
    Recruiting

  • Conditions:   Cerebral Palsy;   Muscular Dystrophies;   Autism Spectrum Disorder;   Traumatic Brain Injury;   Down Syndrome;   Disability, Developmental;   Disability Physical
    Intervention:   Other: Participation
    Sponsor:   Hacettepe University
    Not yet recruiting

  • Conditions:   Down Syndrome;   Sleep Apnea, Obstructive;   Polysomnography
    Intervention:   Diagnostic Test: Assessment of OSAS predictive factors
    Sponsor:   University Hospital, Grenoble
    Recruiting

  • Conditions:   Bohring-Opitz Syndrome;   ASXL1 Gene Mutation;   Shashi-Pena Syndrome;   ASXL2 Gene Mutation;   Bainbridge-Ropers Syndrome;   ASXL3 Gene Mutation
    Intervention:  
    Sponsors:   Children's Hospital Medical Center, Cincinnati;   Dr. Wen-Hann Tan at Boston Children's Hospital;   Bohring-Opitz Syndrome Foundation
    Recruiting

  • Condition:   Down Syndrome
    Intervention:   Device: monitoring BIS in both groups
    Sponsor:   Milton S. Hershey Medical Center
    Recruiting

  • Condition:   Fragile X Syndrome
    Interventions:   Drug: AFQ056;   Other: Placebo;   Other: Language Intervention
    Sponsors:   Elizabeth Berry-Kravis;   National Institute of Neurological Disorders and Stroke (NINDS)
    Recruiting

  • Conditions:   Down Syndrome;   Acute Lymphoblastic Leukemia;   Childhood Cancer
    Interventions:   Drug: Daunorubicin;   Drug: Prednisolone;   Drug: Vincristine;   Drug: Epirubicin;   Drug: E-coli L-asparaginase;   Drug: 6-Mercaptopurine;   Drug: Methotrexate;   Drug: Hydrocortisone;   Drug: Cytarabine;   Drug: Cyclophosphamide
    Sponsor:   National Hospital Organization Nagoya Medical Center
    Recruiting

  • Conditions:   Williams Syndrome;   Supravalvular Aortic Stenosis;   Cardiovascular Disease
    Intervention:  
    Sponsor:   National Heart, Lung, and Blood Institute (NHLBI)
    Recruiting

  • Condition:   Fragile X Syndrome
    Intervention:   Other: Working Memory Training
    Sponsor:   University of California, Davis
    Recruiting

  • Conditions:   Leukemia;   Down Syndrome
    Intervention:  
    Sponsor:   St. Jude Children's Research Hospital
    Recruiting

  • Condition:   Down Syndrome
    Intervention:  
    Sponsor:   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Recruiting

  • Conditions:   Wolfram Syndrome;   Diabetes Mellitus;   Optic Nerve Atrophy;   Deafness;   Diabetes Insipidus;   Ataxia
    Intervention:  
    Sponsors:   Washington University School of Medicine;   American Diabetes Association;   National Institutes of Health (NIH)
    Recruiting

  • Conditions:   Wolfram Syndrome;   Diabetes Mellitus;   Optic Nerve Atrophy;   Ataxia
    Intervention:   Drug: dantrolene sodium
    Sponsors:   Washington University School of Medicine;   National Institutes of Health (NIH)
    Recruiting

  • Conditions:   Genetic Disorder;   Asperger Disorder;   Autism Spectrum Disorder;   Fragile X Syndrome;   Developmental Delay
    Intervention:  
    Sponsor:   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Recruiting

  • Conditions:   Nephritis, Hereditary;   Hematuria-Nephropathy-Deafness Syndrome
    Intervention:  
    Sponsor:   Centogene AG Rostock
    Recruiting

  • Conditions:   Williams Syndrome;   Supravalvular Aortic Stenosis;   Cardiovascular Disease
    Intervention:  
    Sponsor:   National Heart, Lung, and Blood Institute (NHLBI)
    Recruiting

  • Conditions:   Alzheimer Disease;   Down Syndrome;   Mild Cognitive Impairment
    Intervention:  
    Sponsor:   University of Colorado, Denver
    Recruiting

  • Conditions:   Acute Myeloid Leukemia;   Blasts 5 Percent or More of Bone Marrow Nucleated Cells;   Cytopenia;   Down Syndrome;   Myelodysplastic Syndrome;   Myeloid Leukemia Associated With Down Syndrome;   Myeloproliferative Neoplasm;   Trisomy 21;   Trisomy 21 Mosaicism
    Interventions:   Drug: Asparaginase;   Drug: Asparaginase Erwinia chrysanthemi;   Drug: Cytarabine;   Drug: Daunorubicin Hydrochloride;   Drug: Etoposide;   Other: Laboratory Biomarker Analysis;   Drug: Mitoxantrone Hydrochloride;   Drug: Thioguanine
    Sponsors:   Children's Oncology Group;   National Cancer Institute (NCI)
    Recruiting

  • Conditions:   Down Syndrome;   Polyendocrinopathies, Autoimmune;   Respiratory Tract Infections;   Autoimmunity
    Intervention:   Other: Phlebotomy
    Sponsor:   University of Colorado, Denver
    Recruiting

  • Conditions:   Sleep Apnea, Obstructive;   Down Syndrome
    Intervention:   Device: Inspire® Upper Airway Simulation System (Model 3028 IPG )
    Sponsors:   Christopher Hartnick, M.D.;   Massachusetts General Hospital;   University Hospitals Cleveland Medical Center;   Emory University;   Children's Hospital Medical Center, Cincinnati;   Inspire Medical Systems, Inc.;   University of Pittsburgh;   Children's Hospital of The King's Daughters;   Stanford University;   University of Texas Southwestern Medical Center;   Texas Children's Hospital;   Oregon Health and Science University;   C.S. Mott Children's Hospital;   Seattle Children's Hospital;   Children's Hospital of Philadelphia
    Recruiting

  • Conditions:   Amyotrophic Lateral Sclerosis;   Frontotemporal Dementia;   Primary Lateral Sclerosis;   Hereditary Spastic Paraplegia;   Progressive Muscular Atrophy;   Multisystem Proteinopathy
    Intervention:  
    Sponsors:   University of Miami;   National Institute of Neurological Disorders and Stroke (NINDS);   National Center for Advancing Translational Science (NCATS);   St. Jude Children's Research Hospital;   ALS Association
    Recruiting

  • Conditions:   Mucopolysaccharidosis Disorders;   Hurler Syndrome;   Hunter Syndrome;   Maroteaux Lamy Syndrome;   Sly Syndrome;   Alpha-Mannosidosis;   Fucosidosis;   Aspartylglucosaminuria;   Glycoprotein Metabolic Disorders;   Sphingolipidoses;   Recessive Leukodystrophies;   Globoid Cell Leukodystrophy;   Metachromatic Leukodystrophy;   Niemann-Pick B;   Niemann-Pick C Subtype 2;   Sphingomyelin Deficiency;   Peroxisomal Disorders;   Adrenoleukodystrophy With Cerebral Involvement;   Zellweger Syndrome;   Neonatal Adrenoleukodystrophy;   Infantile Refsum Disease;   Acyl-CoA Oxidase Deficiency;   D-Bifunctional Enzyme Deficiency;   Multifunctional Enzyme Deficiency;   Alpha-methylacyl-CoA Racmase Deficiency;   Mitochondrial Neurogastrointestingal Encephalopathy;   Severe Osteopetrosis;   Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation);   Inherited Metabolic Disorders
    Interventions:   Biological: Stem Cell Transplantation;   Drug: IMD Preparative Regimen;   Drug: Osteopetrosis Only Preparative Regimen;   Drug: Osteopetrosis Haploidentical Only Preparative Regimen;   Drug: cALD SR-A (Standard-Risk, Regimen A);   Drug: cALD SR-B (Standard-Risk, Regimen B);   Drug: cALD HR-D (High-Risk, Regimen C);   Drug: cALD HR-D (High-Risk, Regimen D)
    Sponsor:   Masonic Cancer Center, University of Minnesota
    Recruiting

  • Condition:   Williams Syndrome
    Intervention:  
    Sponsor:   National Institute of Mental Health (NIMH)
    Recruiting

  • Conditions:   Smith-Lemli-Opitz Syndrome;   Cone-Rod Dystrophy;   Hearing Loss
    Interventions:   Drug: Antioxidants;   Drug: Cholesterol
    Sponsor:   University of Colorado, Denver
    Recruiting

  • Conditions:   Muscular Dystrophies;   Muscle Myopathies;   Hereditary Spastic Paraplegias;   Inherited Neuropathies;   Inherited Neuromuscular Conditions
    Intervention:  
    Sponsor:   National Institute of Neurological Disorders and Stroke (NINDS)
    Recruiting

  • Conditions:   Usher Syndrome;   Retinitis Pigmentosa
    Intervention:   Genetic: SAR421869
    Sponsor:   Sanofi
    Recruiting

  • Conditions:   Adenovirus;   Anesthesia;   Anxiety;   Anxiolysis;   Autism;   Autistic Disorder;   Bacterial Meningitis;   Bacterial Septicemia;   Benzodiazepine;   Bipolar Disorder;   Bone and Joint Infections;   Central Nervous System Infections;   Convulsions;   Cytomegalovirus Retinitis;   Early-onset Schizophrenia Spectrum Disorders;   Epilepsy;   General Anesthesia;   Gynecologic Infections;   Herpes Simplex Virus;   Infantile Hemangioma;   Infection;   Inflammation;   Inflammatory Conditions;   Intra-abdominal Infections;   Lower Respiratory Tract Infections;   Migraines;   Pain;   Pneumonia;   Schizophrenia;   Sedation;   Seizures;   Skeletal Muscle Spasms;   Skin and Skin-structure Infections;   Treatment-resistant Schizophrenia;   Urinary Tract Infections;   Withdrawal;   Sepsis;   Gram-negative Infection;   Bradycardia;   Cardiac Arrest;   Cardiac Arrhythmia;   Staphylococcal Infections;   Nosocomial Pneumonia;   Neuromuscular Blockade;   Methicillin Resistant Staphylococcus Aureus;   Endocarditis;   Neutropenia;   Headache;   Fibrinolytic Bleeding;   Pulmonary Arterial Hypertension;   CMV Retinitis;   Hypertension;   Chronic Kidney Diseases;   Hyperaldosteronism;   Hypokalemia;   Heart Failure;   Hemophilia;   Heavy Menstrual Bleeding;   Insomnia
    Intervention:   Drug: The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
    Sponsors:   Daniel Benjamin;   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD);   The EMMES Corporation
    Recruiting

  • Conditions:   Fragile X Syndrome;   Healthy Volunteers
    Intervention:  
    Sponsor:   National Institute of Mental Health (NIMH)
    Recruiting

  • Conditions:   Abnormalities;   Inborn Errors of Metabolism;   Mental Retardation;   Muscle Hypotonia;   Smith Lemli Opitz Syndrome
    Intervention:  
    Sponsor:   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
    Recruiting