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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: Fragile X Syndrome
Interventions: Metformin, Placebo oral tablet; Drug
Lead sponsor: Rowan University; Other
Eligibility: 18 Years to 50 Years · Male only
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2021
U.S. locations: 1
States / cities: Stratford, New Jersey

Conditions: Rett Syndrome
Interventions: triheptanoin; Drug
Lead sponsor: Center for Rare Neurological Diseases, Norcross, GA; Other
Eligibility: 2 Years and older · Female only
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2022
U.S. locations: 1
States / cities: Norcross, Georgia

Conditions: Rett Syndrome
Interventions: Trofinetide; Drug
Lead sponsor: ACADIA Pharmaceuticals Inc.; Industry
Eligibility: 2 Years to 5 Years · Female only
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 7
States / cities: Birmingham, Alabama • Aurora, Colorado • Chicago, Illinois + 4 more

Conditions: Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
Interventions: Not listed
Lead sponsor: University of Minnesota; Other
Eligibility: 6 Years and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2019
U.S. locations: 3
States / cities: Oakland, California • Minneapolis, Minnesota • New York, New York

Conditions: Rett Syndrome
Interventions: Not listed
Lead sponsor: Rett Syndrome Research Trust; Other
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2026
U.S. locations: 2
States / cities: Chicago, Illinois • Boston, Massachusetts

Conditions: Cerebral Adrenoleukodystrophy (CALD)
Interventions: Lenti-D; Genetic
Lead sponsor: Genetix Biotherapeutics Inc.; Industry
Eligibility: Up to 17 Years · Male only
Enrollment: 35 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2023
U.S. locations: 3
States / cities: Palo Alto, California • Boston, Massachusetts • Minneapolis, Minnesota

Conditions: Rett Syndrome
Interventions: TSHA-102; Genetic
Lead sponsor: Taysha Gene Therapies, Inc.; Industry
Eligibility: 6 Years to 21 Years · Female only
Enrollment: 17 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2031
U.S. locations: 8
States / cities: Duarte, California • La Jolla, California • Oakland, California + 5 more

Conditions: Menkes Disease
Interventions: copper histidinate; Drug
Lead sponsor: Sentynl Therapeutics, Inc.; Industry
Eligibility: 0 Years to 6 Years
U.S. locations: 20
States / cities: Phoenix, Arizona • Sacramento, California • San Diego, California + 17 more

Conditions: Fragile X Syndrome
Interventions: ZYN002 - Cannabidiol Transdermal Gel; Drug
Lead sponsor: Zynerba Pharmaceuticals, Inc.; Industry
Eligibility: 3 Years to 29 Years
Enrollment: 476 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2026
U.S. locations: 19
States / cities: Phoenix, Arizona • Culver City, California • Irvine, California + 16 more

Conditions: Fragile X Syndrome
Interventions: NNZ-2566, Placebo; Drug
Lead sponsor: Neuren Pharmaceuticals Limited; Industry
Eligibility: 12 Years to 45 Years · Male only
Enrollment: 72 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 17
States / cities: Sacramento, California • Denver, Colorado • Washington D.C., District of Columbia + 14 more

Conditions: Mucopolysaccharidosis Type II (MPS II)
Interventions: RGX-121; Genetic
Lead sponsor: REGENXBIO Inc.; Industry
Eligibility: 4 Months to 5 Years · Male only
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2025
U.S. locations: 4
States / cities: Oakland, California • New Brunswick, New Jersey • Philadelphia, Pennsylvania + 1 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: Fragile X Syndrome
Interventions: Placebo, RO4917523 0.5 mg, RO4917523 1.5 mg; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 14 Years to 50 Years
Enrollment: 185 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 20
States / cities: Phoenix, Arizona • Long Beach, California • Sacramento, California + 17 more

Conditions: Rett Syndrome
Interventions: NGN-401; Genetic
Lead sponsor: Neurogene Inc.; Industry
Eligibility: 3 Years and older · Female only
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2029
U.S. locations: 13
States / cities: Birmingham, Alabama • Oakland, California • Aurora, Colorado + 10 more

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
Interventions: STX209; Drug
Lead sponsor: Seaside Therapeutics, Inc.; Industry
Eligibility: 6 Years to 17 Years
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2009
U.S. locations: 8
States / cities: Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more

Conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
Interventions: Adalimumab Injection [Humira], Saline Solution for Injection; Drug
Lead sponsor: Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center; Other
Eligibility: 5 Years and older
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2027
U.S. locations: 1
States / cities: Torrance, California

Conditions: Fragile X Syndrome, FMR1 Premutation, Primary Ovairan Insufficiency, Premature Ovarian Failure, Premature Menopause
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 18 Years and older · Female only
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2013
U.S. locations: 1
States / cities: Bethesda, Maryland

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: 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: Rett Syndrome
Interventions: Not listed
Lead sponsor: University of South Florida; Other
Eligibility: 3 Years to 18 Years · Female only
Enrollment: 146 participants
Timeline: 2017 – 2020
U.S. locations: 1
States / cities: Tampa, Florida

Conditions: Mucopolysaccharidosis (MPS)
Interventions: Not listed
Lead sponsor: Shire; Industry
Eligibility: Up to 7 Years · Male only
Enrollment: 159 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 7
States / cities: Los Angeles, California • Jacksonville, Florida • Minneapolis, Minnesota + 4 more

Conditions: Rett Syndrome
Interventions: ANAVEX2-73, Placebo; Drug
Lead sponsor: Anavex Life Sciences Corp.; Industry
Eligibility: 18 Years to 45 Years · Female only
Enrollment: 31 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 8
States / cities: Birmingham, Alabama • Sacramento, California • Chicago, Illinois + 5 more

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Long Term Follow-up on Menkes Disease Patients

Metformin in Patients With Fragile X

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome

Longitudinal Studies of Brain Structure and Function in MPS Disorders

Validating Innovative Biosensors for Rett Autonomic Symptom Tracking

A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)

A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)

Copper Histidinate Treatment for Menkes Disease

Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS

A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome

CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)

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

A Study of RO4917523 in Patients With Fragile X Syndrome

A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome

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

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI

The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry

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®

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

Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe)

Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)

Study of ANAVEX2-73 in Patients With Rett Syndrome