{ "api_version": "1", "request": { "url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Neuromuscular+Disability&page=2", "query": { "condition": "Neuromuscular Disability", "page": 2 }, "page_size": 10 }, "pagination": { "page": 2, "page_size": 10, "total_count": 10, "total_pages": 1, "next_page_url": null, "previous_page_url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Neuromuscular+Disability&page=1&page_size=10" }, "source": "remote", "last_synced_at": "2026-06-26T14:13:46.564Z", "attribution": "Data derived from public ClinicalTrials.gov records. The official record at https://clinicaltrials.gov/ remains the source of truth for current availability, contacts, and full study details.", "notes": [ "This endpoint exposes only public summary fields — no participant contact emails, phone numbers, or scraped investigator contact details.", "For contact information and full protocol detail, follow each trial's `official_url` to the ClinicalTrials.gov record.", "This API is a navigational aid. It does not provide medical advice, eligibility determinations, or compensation guarantees." ], "trials": [ { "nct_id": "NCT06092346", "title": "A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "AMPD3, OMIM*102772, AMP Deaminase Deficiency", "AK1, OMIM *103000, Adenylate Kinase Deficiency", "AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency", "TPMT, OMIM *187680, Thoipurines, Poor Metabolism of", "IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11", "APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency", "HPRT1, OMIM *308000 Lesch-Nyhan Disease", "XDH, OMIM *607633, Xanthinuria Type 1", "SLC2A9, OMIM *606142 Hypouricemia", "SLC22A12, OMIM *607096 Hypouricemia", "PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease", "PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity", "AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia", "ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35", "ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency", "PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency", "ADA2, OMIM *607575,Sneddon Syndrome; VAIHS", "CAD, *1140120, Developmental and Epileptic Encephalopathy", "UPB1, OMIM *606673, Beta-ureidopropionase Deficiency", "DPYS, OMIM *613326, Dihydropyrimidinase Deficiency", "DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency", "DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis)", "UMPS, OMIM *613891, Orotic Aciduria", "NT5C3A, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency", "UNG, OMIM *191525, Hyper-IgM Syndrome 5", "AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2", "Purine-Pyrimidine Metabolism", "Metabolic Disease" ], "interventions": [], "intervention_types": [], "sponsor": "National Human Genome Research Institute (NHGRI)", "sponsor_class": "NIH", "healthy_volunteers": false, "eligibility": { "minimum_age": "1 Month", "maximum_age": "100 Years", "sex": "ALL", "summary": "1 Month to 100 Years" }, "enrollment_count": 999, "start_date": "2023-12-19", "completion_date": "2099-01-01", "has_results": false, "last_update_posted_date": "2025-09-04", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Bethesda, Maryland", "locations": [ { "city": "Bethesda", "state": "Maryland" } ], "official_url": "https://clinicaltrials.gov/study/NCT06092346" }, { "nct_id": "NCT03653390", "title": "A Community Wellness Program for Adults Living With Long-term Physical Disability", "overall_status": "COMPLETED", "study_type": "INTERVENTIONAL", "phases": [ "NA" ], "conditions": [ "Physical Disability" ], "interventions": [ { "name": "EnhanceWellness for Disability (EW-D)", "type": "BEHAVIORAL" }, { "name": "Wellness Education", "type": "BEHAVIORAL" } ], "intervention_types": [ "BEHAVIORAL" ], "sponsor": "University of Washington", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "45 Years", "maximum_age": "64 Years", "sex": "ALL", "summary": "45 Years to 64 Years" }, "enrollment_count": 516, "start_date": "2019-01-31", "completion_date": "2022-11-14", "has_results": true, "last_update_posted_date": "2023-11-21", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Seattle, Washington", "locations": [ { "city": "Seattle", "state": "Washington" } ], "official_url": "https://clinicaltrials.gov/study/NCT03653390" }, { "nct_id": "NCT01800604", "title": "Power Over Pain (POP) Study", "overall_status": "COMPLETED", "study_type": "INTERVENTIONAL", "phases": [ "NA" ], "conditions": [ "Multiple Sclerosis", "Spinal Cord Injury", "Chronic Pain", "Other and Unspecified Amputation Stump Complications", "Muscular Dystrophies", "Low Back Pain" ], "interventions": [ { "name": "Pain Self-Management Intervention #1", "type": "BEHAVIORAL" }, { "name": "Pain Self-Management Intervention #2", "type": "BEHAVIORAL" }, { "name": "Pain Self-Management Intervention #3", "type": "BEHAVIORAL" }, { "name": "Pain Self-Management Intervention #4", "type": "BEHAVIORAL" } ], "intervention_types": [ "BEHAVIORAL" ], "sponsor": "University of Washington", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 177, "start_date": "2013-02", "completion_date": "2018-01", "has_results": false, "last_update_posted_date": "2018-10-17", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Seattle, Washington", "locations": [ { "city": "Seattle", "state": "Washington" } ], "official_url": "https://clinicaltrials.gov/study/NCT01800604" }, { "nct_id": "NCT01402570", "title": "Glutathione and Health With Post-Polio Syndrome", "overall_status": "COMPLETED", "study_type": "INTERVENTIONAL", "phases": [ "NA" ], "conditions": [ "Post-polio Syndrome", "Physical Activity", "Depression", "Pain", "Sleep Disorders" ], "interventions": [ { "name": "Glutathione", "type": "DIETARY_SUPPLEMENT" } ], "intervention_types": [ "DIETARY_SUPPLEMENT" ], "sponsor": "University of Michigan", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "50 Years", "maximum_age": "65 Years", "sex": "ALL", "summary": "50 Years to 65 Years" }, "enrollment_count": 20, "start_date": "2011-08", "completion_date": "2013-07", "has_results": true, "last_update_posted_date": "2017-02-17", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Ann Arbor, Michigan", "locations": [ { "city": "Ann Arbor", "state": "Michigan" } ], "official_url": "https://clinicaltrials.gov/study/NCT01402570" }, { "nct_id": "NCT03115840", "title": "Measuring Outcomes of Activity in Intensive Care", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Critical Illness", "Sepsis", "Mechanical Ventilation", "Physical Activity", "Disability Physical", "Muscle Weakness", "Cognitive Impairment" ], "interventions": [], "intervention_types": [], "sponsor": "Vanderbilt University Medical Center", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 312, "start_date": "2017-03-27", "completion_date": "2030-12-31", "has_results": false, "last_update_posted_date": "2026-02-03", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 2, "location_summary": "Columbus, Ohio • Nashville, Tennessee", "locations": [ { "city": "Columbus", "state": "Ohio" }, { "city": "Nashville", "state": "Tennessee" } ], "official_url": "https://clinicaltrials.gov/study/NCT03115840" }, { "nct_id": "NCT01238250", "title": "Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "16P11.2 Deletion Syndrome", "16p11.2 Duplications", "1Q21.1 Deletion", "1Q21.1 Microduplication Syndrome (Disorder)", "ACTL6B", "ADNP", "AHDC1", "ANK2", "ANKRD11", "ARID1B", "ASH1L", "BCL11A", "CHAMP1", "CHD2", "CHD8", "CSNK2A1", "CTBP1", "CTNNB1 Gene Mutation", "CUL3", "DDX3X", "DNMT3A", "DSCAM", "DYRK1A", "FOXP1", "GRIN2A", "GRIN2B", "HIVEP2-Related Intellectual Disability", "HNRNPH2", "KATNAL2", "KDM5B", "KDM6B", "KMT2C Gene Mutation", "KMT2E", "KMT5B", "MBD5", "MED13L", "PACS1", "PPP2R5D-Related Intellectual Disability", "PTCHD1", "REST", "SCN2A Encephalopathy", "SETBP1 Gene Mutation", "SETD5", "SMARCA4 Gene Mutation", "SMARCC2", "STXBP1 Encephalopathy With Epilepsy", "SYNGAP1-Related Intellectual Disability", "TBR1", "ARHGEF9", "HNRNPU", "PPP3CA", "PPP2R1A", "SLC6A1", "2p16.3 Deletions", "5q35 Deletions", "5q35 Duplications", "7q11.23 Duplications", "15Q13.3 Deletion Syndrome", "16p11.2 Triplications", "16P12.2 Microdeletion", "16P13.11 Microdeletion Syndrome (Disorder)", "17Q12 Microdeletion Syndrome (Disorder)", "17Q12 Duplication Syndrome", "17Q21.31 Deletion Syndrome", "17q21.3 Duplications", "ACTB", "ADSL", "AFF2", "ALDH5A1", "ANK3", "ARX", "ATRX Gene Mutation", "AUTS2 Syndrome", "BCKDK", "BRSK2", "CACNA1C", "CAPRIN1", "CASK", "CASZ1", "CHD3", "CIC", "CNOT3", "CREBBP Gene Mutation", "CSDE1", "CTCF", "DEAF1", "DHCR7", "DLG4", "EBF3", "EHMT1", "EP300 Gene Mutation", "GIGYF1", "GRIN1", "GRIN2D", "IQSEC2-Related Syndromic Intellectual Disability", "IRF2BPL", "KANSL1", "KCNB1", "KDM3B", "NEXMIF", "KMT2A", "MBOAT7", "MEIS2", "MYT1L", "NAA15", "NBEA", "NCKAP1", "NIPBL", "NLGN2", "NLGN3", "NLGN4X", "NR4A2", "NRXN1", "NRXN2", "NSD1 Gene Mutation", "PHF21A", "PHF3", "PHIP", "POMGNT1", "PSMD12", "RELN", "RERE", "RFX3", "RIMS1", "RORB", "SCN1A", "SETD2 Gene Mutation", "SHANK2", "SIN3A", "SLC9A6", "SON", "SOX5", "SPAST", "SRCAP", "TAOK1", "TANC2", "TCF20", "TLK2", "TRIO", "TRIP12", "UPF3B", "USP9X", "VPS13B", "WAC", "WDFY3", "ZBTB20", "ZNF292", "ZNF462", "2Q37 Deletion Syndrome", "9q34 Duplications", "15q15 Deletions", "15Q24 Deletion", "NR3C2", "SYNCRIP", "2q34 Duplication", "2q37.3 Deletion", "6q16 Deletion", "15q11.2 BP1-BP2 Deletion", "16p13.3 Deletion", "17Q11.2 Microduplication Syndrome (Disorder)", "17p13.3", "Xq28 Duplication", "CLCN4", "CSNK2B", "DYNC1H1", "EIF3F", "GNB1", "MED13", "MEF2C", "RALGAPB", "SCN1B", "YY1", "Xp11.22 Duplication", "PACS2", "MAOA", "MAOB", "HNRNPC", "HNRNPD", "HNRNPK", "HNRNPR", "HNRNPUL2", "5P Deletion Syndrome", "TCF7L2 Gene Mutation", "HECW2" ], "interventions": [], "intervention_types": [], "sponsor": "Simons Searchlight", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": null, "maximum_age": null, "sex": "ALL", "summary": "Not listed" }, "enrollment_count": 100000, "start_date": "2010-10", "completion_date": "2050-10", "has_results": false, "last_update_posted_date": "2025-06-06", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 2, "location_summary": "Boston, Massachusetts • Lewisburg, Pennsylvania", "locations": [ { "city": "Boston", "state": "Massachusetts" }, { "city": "Lewisburg", "state": "Pennsylvania" } ], "official_url": "https://clinicaltrials.gov/study/NCT01238250" }, { "nct_id": "NCT06614582", "title": "Long-term Evaluation of Nasopharyngeal Airway in Hypotonia", "overall_status": "ENROLLING_BY_INVITATION", "study_type": "INTERVENTIONAL", "phases": [ "NA" ], "conditions": [ "Hypotonia, Muscle", "Obstructive Sleep Apnea", "Nasal Airway Obstruction" ], "interventions": [ { "name": "Self-Supporting Nasopharyngeal Airway (ssNPA)", "type": "DEVICE" } ], "intervention_types": [ "DEVICE" ], "sponsor": "University of Michigan", "sponsor_class": "OTHER", "healthy_volunteers": false, "eligibility": { "minimum_age": "3 Years", "maximum_age": "23 Years", "sex": "ALL", "summary": "3 Years to 23 Years" }, "enrollment_count": 40, "start_date": "2024-10-23", "completion_date": "2026-10", "has_results": false, "last_update_posted_date": "2025-12-02", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Ann Arbor, Michigan", "locations": [ { "city": "Ann Arbor", "state": "Michigan" } ], "official_url": "https://clinicaltrials.gov/study/NCT06614582" }, { "nct_id": "NCT03233646", "title": "Retinal Imaging in Neurodegenerative Disease", "overall_status": "RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Alzheimer's Disease", "Mild Cognitive Impairment", "Parkinson's Disease", "Multiple Sclerosis", "Huntington Disease", "Lewy Body Dementia", "Frontotemporal Dementia", "Amyotrophic Lateral Sclerosis (ALS)", "APOE-4 Positive", "Traumatic Brain Injury", "Concussion", "Post-Traumatic Stress Disorder", "Down Syndrome", "Neuro-Degenerative Disease", "Normal Cognition" ], "interventions": [ { "name": "Retinal and Choroidal Imaging", "type": "DEVICE" } ], "intervention_types": [ "DEVICE" ], "sponsor": "Duke University", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "18 Years", "maximum_age": null, "sex": "ALL", "summary": "18 Years and older" }, "enrollment_count": 2000, "start_date": "2017-07-20", "completion_date": "2026-12-31", "has_results": false, "last_update_posted_date": "2026-02-04", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Durham, North Carolina", "locations": [ { "city": "Durham", "state": "North Carolina" } ], "official_url": "https://clinicaltrials.gov/study/NCT03233646" }, { "nct_id": "NCT07151950", "title": "Obi Medical Robot: Evaluating Effectiveness Related to Usability", "overall_status": "ACTIVE_NOT_RECRUITING", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Upper Extremity Impairments", "Cerebral Palsy (CP)", "ALS - Amyotrophic Lateral Sclerosis", "Rett Syndrome" ], "interventions": [ { "name": "One-week trial of Obi Medical device, which provides robotic assistance with feeding to persons with upper extremity impairments who are unable to self-feed in the traditional manner using utensils", "type": "DEVICE" } ], "intervention_types": [ "DEVICE" ], "sponsor": "Desin LLC", "sponsor_class": "INDUSTRY", "healthy_volunteers": false, "eligibility": { "minimum_age": "5 Years", "maximum_age": null, "sex": "ALL", "summary": "5 Years and older" }, "enrollment_count": 50, "start_date": "2025-05-10", "completion_date": "2025-10-31", "has_results": false, "last_update_posted_date": "2025-09-03", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Jacksonville, Florida", "locations": [ { "city": "Jacksonville", "state": "Florida" } ], "official_url": "https://clinicaltrials.gov/study/NCT07151950" }, { "nct_id": "NCT03655223", "title": "Early Check: Expanded Screening in Newborns", "overall_status": "ENROLLING_BY_INVITATION", "study_type": "OBSERVATIONAL", "phases": [], "conditions": [ "Spinal Muscular Atrophy", "Fragile X Syndrome", "Fragile X - Premutation", "Duchenne Muscular Dystrophy", "Hyperinsulinemic Hypoglycemia, Familial 1", "Diabetes Mellitus", "Adrenoleukodystrophy, Neonatal", "Medium-chain Acyl-CoA Dehydrogenase Deficiency", "Very Long Chain Acyl Coa Dehydrogenase Deficiency", "Beta-ketothiolase Deficiency", "Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency", "Primary Hyperoxaluria Type 1", "Congenital Bile Acid Synthesis Defect Type 2", "Pyridoxine-Dependent Epilepsy", "Hereditary Fructose Intolerance", "Hypophosphatasia", "Hyperargininemia", "Mucopolysaccharidosis Type 6", "Argininosuccinic Aciduria", "Citrullinemia, Type I", "Wilson Disease", "Maple Syrup Urine Disease, Type 1A", "Maple Syrup Urine Disease, Type 1B", "Biotinidase Deficiency", "Neonatal Severe Primary Hyperparathyroidism", "Intrinsic Factor Deficiency", "Usher Syndrome Type 1D/F Digenic (Diagnosis)", "Cystic Fibrosis", "Stickler Syndrome Type 2", "Stickler Syndrome Type 1", "Alport Syndrome, Autosomal Recessive", "Alport Syndrome, X-Linked", "Carbamoyl Phosphate Synthetase I Deficiency Disease", "Carnitine Palmitoyl Transferase 1A Deficiency", "Carnitine Palmitoyltransferase II Deficiency", "Cystinosis", "Chronic Granulomatous Disease", "Cerebrotendinous Xanthomatoses", "Maple Syrup Urine Disease, Type 2", "Severe Combined Immunodeficiency Due to DCLRE1C Deficiency", "Thyroid Dyshormonogenesis 6", "Thyroid Dyshormonogenesis 5", "Supravalvar Aortic Stenosis", "Factor X Deficiency", "Hemophilia A", "Hemophilia B", "Tyrosinemia, Type I", "Fructose 1,6 Bisphosphatase Deficiency", "Glycogen Storage Disease Type I", "G6PD Deficiency", "Glycogen Storage Disease II", "Galactokinase Deficiency", "Mucopolysaccharidosis Type IV A", "Galactosemias", "Guanidinoacetate Methyltransferase Deficiency", "Agat Deficiency", "Glutaryl-CoA Dehydrogenase Deficiency", "Gtp Cyclohydrolase I Deficiency", "Hyperinsulinism-Hyperammonemia Syndrome", "Primary Hyperoxaluria Type 2", "3-Hydroxyacyl-CoA Dehydrogenase Deficiency", "Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency", "Mitochondrial Trifunctional Protein Deficiency", "Sickle Cell Disease", "Beta-Thalassemia", "Holocarboxylase Synthetase Deficiency", "3-Hydroxy-3-Methylglutaric Aciduria", "Primary Hyperoxaluria Type 3", "Hermansky-Pudlak Syndrome 1", "Hermansky-Pudlak Syndrome 4", "Apparent Mineralocorticoid Excess", "HSDB", "CBAS1", "Mucopolysaccharidosis Type 2", "Mucopolysaccharidosis Type 1", "Severe Combined Immunodeficiency, X Linked", "Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency", "Diabetes Mellitus, Permanent Neonatal", "Isovaleric Acidemia", "Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder)", "Jervell and Lange-Nielsen Syndrome 2", "Hyperinsulinemic Hypoglycemia, Familial, 2", "Diabetes Mellitus, Permanent Neonatal, With Neurologic Features", "Jervell and Lange-Nielsen Syndrome 1", "Lysosomal Acid Lipase Deficiency", "CblF", "3-Methylcrotonyl CoA Carboxylase 1 Deficiency", "3-Methylcrotonyl CoA Carboxylase 2 Deficiency", "Waardenburg Syndrome Type 2A", "Methylmalonic Aciduria cblA Type", "Methylmalonic Aciduria cblB Type", "Methylmalonic Aciduria and Homocystinuria Type cblC", "MAHCD", "Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency", "Congenital Disorder of Glycosylation Type 1B", "Mthfr Deficiency", "Methylcobalamin Deficiency Type Cbl G (Disorder)", "Methylcobalamin Deficiency Type cblE", "Usher Syndrome, Type 1B", "N-acetylglutamate Synthase Deficiency", "Ornithine Transcarbamylase Deficiency", "Phenylketonurias", "Waardenburg Syndrome Type 1", "Congenital Hypothyroidism", "Propionic Acidemia", "Usher Syndrome, Type 1F", "Pancreatic Agenesis 1", "Hereditary Hypophosphatemic Rickets", "Glycogen Storage Disease IXB", "Glycogen Storage Disease IXC", "MOWS", "Epilepsy, Early-Onset, Vitamin B6-Dependent", "Pyridoxal Phosphate-Responsive Seizures", "Pituitary Hormone Deficiency, Combined, 1", "Ptsd", "Dihydropteridine Reductase Deficiency", "Severe Combined Immunodeficiency Due to RAG1 Deficiency", "Severe Combined Immunodeficiency Due to RAG2 Deficiency", "Retinoblastoma", "Multiple Endocrine Neoplasia Type 2B", "Pseudohypoaldosteronism, Type I", "Liddle Syndrome", "Biotin-Responsive Basal Ganglia Disease", "SCD", "DIAR1", "GSD1C", "Acrodermatitis Enteropathica", "Thyroid Dyshormonogenesis 1", "Riboflavin Transporter Deficiency", "Waardenburg Syndrome, Type 2E", "SRD", "Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency", "Barth Syndrome", "Adrenocorticotropic Hormone Deficiency", "Transcobalamin II Deficiency", "Thyroid Dyshormonogenesis 3", "Segawa Syndrome, Autosomal Recessive", "Autosomal Recessive Nonsyndromic Hearing Loss", "Thyroid Dyshormonogenesis 2A", "Congenital Isolated Thyroid Stimulating Hormone Deficiency", "Hypothyroidism Due to TSH Receptor Mutations", "Usher Syndrome Type 1C", "Usher Syndrome Type 1G (Diagnosis)", "Von Willebrand Disease, Type 3", "Combined Immunodeficiency Due to ZAP70 Deficiency", "Adenine Phosphoribosyltransferase Deficiency", "Metachromatic Leukodystrophy", "Canavan Disease", "Menkes Disease", "Carbonic Anhydrase VA Deficiency", "Developmental and Epileptic Encephalopathy 2", "17 Alpha-Hydroxylase Deficiency", "Smith-Lemli-Opitz Syndrome", "Krabbe Disease", "Glutathione Synthetase Deficiency", "Mucopolysaccharidosis Type 7", "Rett Syndrome", "Molybdenum Cofactor Deficiency, Type A", "Niemann-Pick Disease, Type C1", "Niemann-Pick Disease Type C2", "Ornithine Aminotransferase Deficiency", "3-Phosphoglycerate Dehydrogenase Deficiency", "Leber Congenital Amaurosis 2", "Dravet Syndrome", "Mucopolysaccharidosis Type 3 A", "Ornithine Translocase Deficiency", "Carnitine-acylcarnitine Translocase Deficiency", "Glucose Transporter Type 1 Deficiency Syndrome", "Creatine Transporter Deficiency", "Niemann-Pick Disease Type A", "Pitt Hopkins Syndrome", "Tuberous Sclerosis 1", "Tuberous Sclerosis 2", "Ataxia With Isolated Vitamin E Deficiency", "Angelman Syndrome", "Prader-Willi Syndrome", "Homocystinuria", "Permanent Neonatal Diabetes Mellitus", "Transient Neonatal Diabetes Mellitus", "Factor VII Deficiency", "Glycogen Storage Disease Type IXA1", "Glycogen Storage Disease, Type IXA2", "Glycogen Storage Disease IC", "Glycogen Storage Disease Type IB", "Central Hypoventilation Syndrome With or Without Hirschsprung Disease" ], "interventions": [ { "name": "Confirmatory Testing", "type": "DIAGNOSTIC_TEST" } ], "intervention_types": [ "DIAGNOSTIC_TEST" ], "sponsor": "RTI International", "sponsor_class": "OTHER", "healthy_volunteers": true, "eligibility": { "minimum_age": "1 Day", "maximum_age": "31 Days", "sex": "ALL", "summary": "1 Day to 31 Days" }, "enrollment_count": 30000, "start_date": "2018-10-15", "completion_date": "2025-12-31", "has_results": false, "last_update_posted_date": "2025-04-04", "last_synced_at": "2026-06-26T14:13:46.564Z", "location_count": 1, "location_summary": "Research Triangle Park, North Carolina", "locations": [ { "city": "Research Triangle Park", "state": "North Carolina" } ], "official_url": "https://clinicaltrials.gov/study/NCT03655223" } ] }