Search | Clinical Trials Finder

Conditions: Rett Syndrome
Interventions: Drug: Bionetide, Placebo; Drug
Lead sponsor: Biomed Industries, Inc.; Industry
Eligibility: 5 Years to 20 Years · Female only
Enrollment: 187 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2025
U.S. locations: 12
States / cities: La Jolla, California • Los Angeles, California • Sacramento, California + 9 more

Conditions: Developmental Disabilities, Fragile X Syndrome
Interventions: discrete-trial training; Behavioral
Lead sponsor: Stanford University; Other
Eligibility: 10 Years to 23 Years
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2013
U.S. locations: 1
States / cities: Stanford, California

Conditions: Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases, Nervous System Diseases, Genetic Diseases, X-Linked, Genetic Diseases, Inborn
Interventions: Ataluren, Placebo; Drug
Lead sponsor: PTC Therapeutics; Industry
Eligibility: 7 Years to 16 Years · Male only
Enrollment: 230 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2015
U.S. locations: 21
States / cities: Los Angeles, California • Sacramento, California • Aurora, Colorado + 17 more

Conditions: Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 1 Year to 99 Years
Enrollment: 96 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Severe Combined Immunodeficiency
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 13 Years to 17 Years · Female only
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Thrombosis
Interventions: Kcentra, Apixaban, Placebo; Drug
Lead sponsor: Thomas Jefferson University; Other
Eligibility: 18 Years to 55 Years
Enrollment: 12 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2014
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

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: Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D); Biological · Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 55 Years
Enrollment: 149 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2029
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Duchenne Muscular Dystrophy (DMD)
Interventions: Semaglutide (Rybelsus®), Placebo; Drug · Other
Lead sponsor: Vanderbilt University Medical Center; Other
Eligibility: 18 Years and older · Male only
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2030
U.S. locations: 1
States / cities: Nashville, Tennessee

Conditions: Duchenne Muscular Dystrophy
Interventions: P-188 NF; Drug
Lead sponsor: Phrixus Pharmaceuticals, Inc.; Industry
Eligibility: 12 Years to 25 Years · Male only
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Chronic Granulomatous Disease (CGD)
Interventions: Not listed
Lead sponsor: Ensoma; Industry
Eligibility: Not listed
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 50
States / cities: Montgomery, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 47 more

Conditions: Fragile X Syndrome
Interventions: acamprosate, Placebo; Drug
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: 5 Years to 23 Years
Enrollment: 46 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2013 – 2018
U.S. locations: 2
States / cities: Chicago, Illinois • Cincinnati, Ohio

Conditions: Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length, Fanconi Anemia, Non Fanconi DNA-DSB Repair Disorder, Hoyeraal-Hreidarsson Syndrome, Dyskeratosis Congenita, Telomere Biology Disorder, Short Telomere Syndrome
Interventions: Alemtuzumab, Fludarabine, Melphalan, Low Dose Total Body Irradiation, Cyclophosphamide, Tacrolimus, Mycophenolate Mofetil; Drug · Radiation
Lead sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins; Other
Eligibility: 4 Months to 50 Years
Enrollment: 27 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2028
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Darier Disease, Hailey-Hailey Disease, Hyperkeratosis, Epidermolytic, Ichthyosis, Ichthyosis, Lamellar, Ichthyosis, X-Linked, Keratoderma
Interventions: Not listed
Lead sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); NIH
Eligibility: Not listed
Enrollment: 610 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1994 – 2004
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: Dystrophinopathy, Duchenne Muscular Dystrophy, Becker's Muscular Dystrophy
Interventions: L-arginine; Drug
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 7 Years to 11 Years · Male only
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Fragile X Syndrome
Interventions: Not listed
Lead sponsor: Esoterix Genetic Laboratories, LLC; Industry
Eligibility: Not listed
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012
U.S. locations: 1
States / cities: Westborough, Massachusetts

Conditions: Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy, FSHD, Cerebral Palsy, Becker Muscular Dystrophy
Interventions: Abilitech Assist; Device
Lead sponsor: AbiliTech Medical Inc.; Industry
Eligibility: 10 Years and older
Enrollment: 35 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Saint Paul, Minnesota

Conditions: X-linked Hypophosphatemia
Interventions: KRN23; Drug
Lead sponsor: Kyowa Kirin Co., Ltd.; Industry
Eligibility: 18 Years and older
Enrollment: 29 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 5
States / cities: San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more

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<TAB>, 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: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Menkes Disease, Occipital Horn Syndrome
Interventions: Droxidopa, Placebo; Drug · Other
Lead sponsor: Stephen G. Kaler, MD; Other
Eligibility: 18 Years to 50 Years
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 1
States / cities: New York, New York

Conditions: Immunologic Deficiency Syndromes, Chediak-Higashi Syndrome, Common Variable Immunodeficiency, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, X-linked Hyper IgM Syndrome, Severe Combined Immunodeficiency, Leukocyte Adhesion Deficiency Syndrome, Virus-Associated Hemophagocytic Syndrome
Interventions: anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, etoposide, methotrexate, methylprednisolone, prednisone, Allogeneic Bone Marrow Transplantation; Drug · Procedure
Lead sponsor: Fairview University Medical Center; Other
Eligibility: Up to 35 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2000 – 2002
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
Interventions: ECUR-506; Genetic
Lead sponsor: iECURE, Inc.; Industry
Eligibility: 24 Hours to 7 Months · Male only
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2027
U.S. locations: 6
States / cities: Los Angeles, California • Aurora, Colorado • Atlanta, Georgia + 3 more

Conditions: Duchenne Muscular Dystrophy
Interventions: Pamrevlumab, Placebo, Corticosteroids; Drug
Lead sponsor: Kyntra Bio; Industry
Eligibility: 6 Years to 11 Years · Male only
Enrollment: 73 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 27
States / cities: Little Rock, Arkansas • Los Angeles, California • Sacramento, California + 24 more

Conditions: Dyskeratosis Congenita, Telomere Biology Disorders
Interventions: Not listed
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: 18 Years to 100 Years
Enrollment: 53 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Mucopolysaccharidosis Type II (MPS II)
Interventions: RGX-121; Genetic
Lead sponsor: REGENXBIO Inc.; Industry
Eligibility: 5 Years to 17 Years · Male only
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 1
States / cities: Oakland, California

Search by objective public record fields.

To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome

Teaching Math Skills to Individuals With Fragile X Syndrome

Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Pediatric Patients With Metabolic or Other Genetic Disorders

Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID

Reversibility of Apixaban Anticoagulation With the Four Factor Prothrombin Complex Concentrate Kcentra

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

Glucagon-Like Peptide-1 Receptor Agonists to Attenuate Metabolic Risk in Individuals With Duchenne Muscular Dystrophy

Safety and Efficacy of P-188 NF in DMD Patients

Prevalence of Antibodies and Cytokines in Participants With Chronic Granulomatous Disease

Study of Acamprosate in Fragile x Syndrome

Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures

National Registry for Ichthyosis and Related Disorders

Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Schulze Muscular Dystrophy Ability Clinical Study

A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome

Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies

An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency

Phase 3 Trial of Pamrevlumab or Placebo in Combination With Systemic Corticosteroids in Participants With Ambulatory DMD

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)