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Conditions: Rett Syndrome
Interventions: NNZ-2566, Placebo; Drug
Lead sponsor: Neuren Pharmaceuticals Limited; Industry
Eligibility: 5 Years to 15 Years · Female only
Enrollment: 82 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2017
U.S. locations: 12
States / cities: Birmingham, Alabama • Oakland, California • San Diego, California + 9 more

Conditions: Menkes Disease
Interventions: Long Term Follow-Up; Drug
Lead sponsor: Sentynl Therapeutics, Inc.; Industry
Eligibility: Not listed
Enrollment: 50 participants
Timeline: 2019 – 2026
U.S. locations: 1
States / cities: Solana Beach, California

Conditions: X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Interventions: Allo-HSCT; Genetic
Lead sponsor: Genetix Biotherapeutics Inc.; Industry
Eligibility: Up to 17 Years · Male only
Enrollment: 59 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2019
U.S. locations: 6
States / cities: Los Angeles, California • Palo Alto, California • Boston, Massachusetts + 3 more

Conditions: Fragile X Syndrome, FXS, Fra(X) Syndrome
Interventions: BPN14770, Placebo; Drug
Lead sponsor: Tetra Discovery Partners; Industry
Eligibility: 18 Years to 45 Years · Male only
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 1
States / cities: Chicago, Illinois

Conditions: Behavioral Manifestations of Lesch-Nyhan Disease
Interventions: sapropterin; Drug
Lead sponsor: University of California, San Diego; Other
Eligibility: 4 Years and older
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2010
U.S. locations: 1
States / cities: San Diego, California

Conditions: Fragile X Syndrome
Interventions: Placebo (for RO4917523 ascending doses), Placebo (for RO4917523 fixed dose), RO4917523; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 18 Years to 50 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 5
States / cities: Sacramento, California • Decatur, Georgia • Chicago, Illinois + 2 more

Conditions: ALD (Adrenoleukodystrophy), Adrenoleukodystrophy, Cerebral Adrenoleukodystrophy
Interventions: Medical Record Abstraction, Biospecimen Sample Collection; Other
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2030
U.S. locations: 1
States / cities: Minneapolis, Minnesota

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: 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

Conditions: All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis, Asthma, Atopic Dermatitis Eczema, Beta Thalassemia, Bipolar Disorder, Breast Cancer, Celiac Disease, Cervical Cancer, Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Kidney Diseases, Chronic Obstructive Pulmonary Disease, Colon Cancer, Colorectal Cancer, Crohn's Disease, Cystic Fibrosis, Depression, Diabetes Mellitus, Duchenne Muscular Dystrophy, Endometriosis, Epilepsy, Facioscapulohumeral Muscular Dystrophy, G6PD Deficiency, General Anxiety Disorder, Hepatitis B, Hereditary Hemorrhagic Telangiectasia, HIV/AIDS, Human Papilloma Virus, Huntington's Disease, Idiopathic Thrombocytopenic Purpura, Insomnia, Kidney Cancer, Leukemia, Lung Cancer, Lupus Nephritis, Lymphoma, Melanoma, Multiple Myeloma, Multiple Sclerosis, Myositis, Myotonic Dystrophy, Ovarian Cancer, Pancreatic Cancer, Parkinson's Disease, Polycystic Kidney Diseases, Prostate Cancer, Psoriasis, Psoriatic Arthritis, Rosacea, Scleroderma, Sickle Cell Anemia, Sickle Cell Trait, Sjogren's Syndrome, Skin Cancer, Spinal Muscular Atrophy, Systemic Lupus Erythematosus, Thrombotic Thrombocytopenic Purpura, Trisomy 21, Ulcerative Colitis
Interventions: Not listed
Lead sponsor: Sanguine Biosciences; Industry
Eligibility: 18 Years to 100 Years
Enrollment: 17,667 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2013 – 2024
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Fragile X Syndrome
Interventions: BPN14770/ zatolmilast, Placebo; Drug
Lead sponsor: Tetra Discovery Partners; Industry
Eligibility: 18 Years to 45 Years · Male only
Enrollment: 171 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 17
States / cities: Irvine, California • Orange, California • Sacramento, California + 14 more

Conditions: Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III), Krabbe Disease (Globoid Leukodystrophy), Metachromatic Leukodystrophy (MLD), Adrenoleukodystrophy (ALD and AMN), Sandhoff Disease, Tay Sachs Disease, Pelizaeus Merzbacher (PMD), Niemann-Pick Disease, Alpha-mannosidosis
Interventions: hematopoietic stem cell infusion; Biological
Lead sponsor: Talaris Therapeutics Inc.; Industry
Eligibility: Not listed
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2016
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Fragile X Syndrome
Interventions: minocycline hydrochloride, Placebo; Drug
Lead sponsor: University of California, Davis; Other
Eligibility: 42 Months to 16 Years
Enrollment: 66 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 1
States / cities: Sacramento, California

Conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease
Interventions: There is no intervention; Other
Lead sponsor: University of California, San Francisco; Other
Eligibility: Up to 64 Years
Enrollment: 250 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2050
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies, Inborn Errors of Metabolism, Sickle Cell, Thalassemia, Lysosomal Storage Disease
Interventions: Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning; Biological · Drug
Lead sponsor: Duke University; Other
Eligibility: Up to 21 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2014
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Fragile X Syndrome
Interventions: zatolmilast, Placebo; Drug
Lead sponsor: Tetra Discovery Partners; Industry
Eligibility: 9 Years to 18 Years · Male only
Enrollment: 163 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 17
States / cities: Irvine, California • Orange, California • Sacramento, California + 14 more

Conditions: Rett Syndrome, RTT, Rett Syndrome, Atypical
Interventions: EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment; Other
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: 1 Year to 18 Years · Female only
Enrollment: 202 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2029
U.S. locations: 6
States / cities: Los Angeles, California • Aurora, Colorado • Brookline, Massachusetts + 3 more

Conditions: Rett Syndrome
Interventions: Recombinant Human Insulin Growth Factor 1 (rhIGF-1), Placebo; Drug
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 2 Years to 10 Years · Female only
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2016
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Hunter Syndrome
Interventions: Neurobehavioral testing, Visual and auditory assessments; Behavioral · Other
Lead sponsor: Shire; Industry
Eligibility: 32 Months to 18 Years · Male only
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 1
States / cities: Chapel Hill, North Carolina

Conditions: Angelman Syndrome, Fragile X Syndrome
Interventions: OV101; Drug
Lead sponsor: Ovid Therapeutics Inc.; Industry
Eligibility: 13 Years to 17 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017
U.S. locations: 2
States / cities: Chicago, Illinois • Nashville, Tennessee

Conditions: Rett Syndrome
Interventions: trofinetide; Drug
Lead sponsor: ACADIA Pharmaceuticals Inc.; Industry
Eligibility: 5 Years to 21 Years · Female only
Enrollment: 77 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 21
States / cities: Birmingham, Alabama • Phoenix, Arizona • La Jolla, California + 18 more

Conditions: Fragile X Syndrome
Interventions: STX209, Placebo; Drug
Lead sponsor: Seaside Therapeutics, Inc.; Industry
Eligibility: 6 Years to 40 Years
Enrollment: 63 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 12
States / cities: Phoenix, Arizona • Los Angeles, California • Sacramento, California + 9 more

Conditions: Menkes Disease, Occipital Horn Syndrome, Unexplained Copper Deficiency
Interventions: Copper Histidine; Drug
Lead sponsor: Cyprium Therapeutics, Inc.; Industry
Eligibility: Up to 80 Years
Enrollment: 93 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2020
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII, Tarui Disease, GSD X, GSD XII, GSD XIII, GSD XV, PGBM2, PRKAG2, Danon Disease, Polyglucosan Body Myopathy Type 1, Polyglucosan Body Myopathy Type 2, RBCK1 Deficiency
Interventions: No intervention; Other
Lead sponsor: Duke University; Other
Eligibility: 0 Years to 90 Years
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2034
U.S. locations: 1
States / cities: Durham, North Carolina

Search by objective public record fields.

A Safety Study of NNZ-2566 in Pediatric Rett Syndrome

Long Term Follow-up on Menkes Disease Patients

Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)

A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome

Trial of Kuvan in Lesch-Nyhan Disease

A Study With RO4917523 in Patients With Fragile X Syndrome

Adrenoleukodystrophy National Registry Study

Pediatric Patients With Metabolic or Other Genetic Disorders

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

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Trial of Minocycline to Treat Children With Fragile X Syndrome

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders

A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

Neurophysiologic Biomarkers in Rett Syndrome

Treatment of Rett Syndrome With Recombinant Human IGF-1

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

Single Dose Pharmacokinetic (PK) Study

Open-Label Extension Study of Trofinetide for Rett Syndrome

Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency

Rare Glycogen Storage Diseases Natural History Study