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Conditions: Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Frontotemporal Dementia
Interventions: Not listed
Lead sponsor: University of Miami; Other
Eligibility: 7 Years and older
Enrollment: 217 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2031
U.S. locations: 3
States / cities: Miami, Florida • Kansas City, Kansas • Philadelphia, Pennsylvania

Conditions: Spinal Cord Injuries, Paraplegia, Spinal, Tetraplegia/Tetraparesis, Paraplegia, Spastic
Interventions: Robotic gait training, Robotic gait training and low-frequency transspinal stimulation, Robotic gait training and high-frequency transspinal stimulation; Other · Device
Lead sponsor: City University of New York; Other
Eligibility: 18 Years to 65 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 2
States / cities: Staten Island, New York • The Bronx, New York

Conditions: Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4, SPG5A, Spastic Paraplegia 4, Spastic Paraplegia 5A, Early Onset Hereditary Spastic Paraplegia, Neuromuscular Diseases, Spastic Paraplegia, Hereditary
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Not listed
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2027
U.S. locations: 11
States / cities: Miami, Florida • Iowa City, Iowa • Boston, Massachusetts + 6 more

Conditions: AMN, AMN Gene Mutation, X-ALD
Interventions: Natural History Observation; Other
Lead sponsor: SwanBio Therapeutics, Inc.; Industry
Eligibility: 18 Years and older · Male only
Enrollment: 65 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2025
U.S. locations: 4
States / cities: Stanford, California • Boston, Massachusetts • New York, New York + 1 more

Conditions: Hereditary Spastic Paraplegia
Interventions: D-cycloserine; Drug
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 6 Years to 6 Years · Female only
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 1
States / cities: Boston, Massachusetts

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: Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome, Primary Lateral Sclerosis, Spinal Muscular Atrophy, Charcot Marie Tooth Disease (CMT), Fascioscapulohumeral Muscular Dystrophy, Inclusion Body Myositis, Mitochondrial Myopathy, Nemaline Myopathy, Centronuclear Myopathy, Postpolio Syndrome, Pompe Disease (Late-onset), Chronic Inflammatory Demyelinating Polyneuropathy, Hereditary Spastic Paraplegia, Postural Orthostatic Tachycardia Syndrome (POTS), Progressive Muscular Atrophy
Interventions: Whole-body Electrical Muscle Stimulation Exercise; Device
Lead sponsor: University of Missouri-Columbia; Other
Eligibility: 18 Years and older
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2031
U.S. locations: 1
States / cities: Columbia, Missouri

Conditions: HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50, Hereditary Spastic Paraplegia Type 47, Hereditary Spastic Paraplegia Type 51, Hereditary Spastic Paraplegia Type 52, SPG47, AP4B1, Neurogenetic Disorders, Neurodevelopmental Conditions, Movement Disorders, Gene Therapy
Interventions: BFB-101 (AAV9-CBh-AP4B1); Biological
Lead sponsor: BlackfinBio Ltd; Industry
Eligibility: 12 Months to 60 Months
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2032
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 1 Day to 100 Years
Enrollment: 2,323 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2012
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease, Neonatal Encephalopathy, Mutation, Genetic Disease
Interventions: Patient Registry, Dry blood spots sampling; Other
Lead sponsor: University of California, San Diego; Other
Eligibility: Not listed
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 1
States / cities: San Diego, California

Conditions: Spastic Cerebral Palsy
Interventions: Rolfing / Myofascial Structural Integration; Other
Lead sponsor: Stanford University; Other
Eligibility: 1 Year to 3 Years
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2014
U.S. locations: 1
States / cities: Stanford, California

Conditions: Primary Lateral Sclerosis, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 55 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2001 – 2003
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Hereditary Spastic Paraplegia Type 50
Interventions: MELPIDA; Genetic
Lead sponsor: Elpida Therapeutics SPC; Industry
Eligibility: 4 Months to 72 Months
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2032
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Spinal Cord Injuries, Paraplegia, Spinal, Tetraplegia/Tetraparesis, Paraplegia, Spastic
Interventions: Standing transspinal stimulation followed by robotic gait training, Lying transspinal stimulation followed by robotic gait training, Standing sham transspinal stimulation followed by robotic gait training; Combination Product · Other
Lead sponsor: City University of New York; Other
Eligibility: 18 Years to 70 Years
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 2
States / cities: Staten Island, New York • The Bronx, New York

Conditions: Hereditary Spastic Paraplegia
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 7 Years and older
Enrollment: 51 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2020
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Spasticity, Muscle, Microcephaly, Intellectual Deficiency, Growth Retardation, SPG50, Spastic Paraplegia
Interventions: MELPIDA; Biological
Lead sponsor: Elpida Therapeutics SPC; Industry
Eligibility: 4 Months to 10 Years
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2030
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: AMN, AMN Gene Mutation, X-ALD
Interventions: SBT101, Imitation Procedure; Genetic · Procedure
Lead sponsor: SwanBio Therapeutics, Inc.; Industry
Eligibility: 18 Years to 65 Years · Male only
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: Worcester, Massachusetts

Conditions: Hereditary Spastic Paraplegia, SPG47, SPG50, SPG51, SPG52, AP4-related Hereditary Spastic Paraplegia, Early Onset Hereditary Spastic Paraplegia, SPG4, SPG3A, SPG15, SPG11
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Up to 30 Years
Enrollment: 700 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2030
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Muscle Spasticity, Hypertonia, Muscle, Cerebral Palsy, Multiple Sclerosis, Stroke, Hereditary Spastic Paraplegia, Dystonia, Spinal Cord Injuries
Interventions: MTR-601; Drug
Lead sponsor: Motric Bio; Industry
Eligibility: 18 Years to 45 Years
Enrollment: 89 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: San Antonio, Texas

Conditions: Hereditary Spastic Paraplegia
Interventions: transcutaneous spinal cord stimulation; Device
Lead sponsor: Rahul Sachdeva; Other
Eligibility: 18 Years and older
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2028
U.S. locations: 1
States / cities: Lexington, Kentucky

Conditions: Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease, Primary Lateral Sclerosis, Nervous System Diseases, Hereditary Spastic Paraparesis
Interventions: No intervention; Other
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 30 Years to 80 Years
Enrollment: 475 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2015
U.S. locations: 29
States / cities: Phoenix, Arizona • Orange, California • Jacksonville, Florida + 24 more

Conditions: Primary Lateral Sclerosis
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 18 Years and older
Enrollment: 189 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2019
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Spinal Cord Injuries, Spasticity, Muscle, Spastic Paraplegia, Spastic Quadriplegia, Spastic Tetraplegia, Paraplegia, Tetraplegia
Interventions: Extracorporeal Shockwave Therapy; Device
Lead sponsor: Kessler Foundation; Other
Eligibility: 18 Years and older
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: West Orange, New Jersey

Conditions: Herpesviridae Infection, HTLV-I Infection, Multiple Sclerosis, Tropical Spastic Paraparesis, Vasculitis
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 18 Years to 75 Years
Enrollment: 1,388 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1976 – 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

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Phenotype, Genotype and Biomarkers 2

Activity-Dependent Transspinal Stimulation in SCI

Spastic Paraplegia - Centers of Excellence Research Network

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia

D-Cycloserine for Serine Palmitoyltransferase Inhibition

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

Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease

Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Natural History Study of Patients with HPDL Mutations

Therapeutic Potential of Myofascial Structural Integration in Children With Cerebral Palsy

Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

Phase 3 Efficacy Study With Concurrent Control of IT MELPIDA in SPG50.Concurrent Controls.

Transspinal Stimulation Plus Locomotor Training for SCI

Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31

Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)

A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals

Neuromodulation to Enhance Motor Function in HSP

Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)

Screening and Natural History: Primary Lateral Sclerosis and Related Disorders

Extracorporeal Shockwave Therapy for Spasticity in People With Spinal Cord Injury

Assessment of Patients With Multiple Sclerosis (MS)