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10 recruiting studies matching your filters

Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfu…

AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more

Estimated

~$10 – $675

National Human Genome Research Institute (NHGRI)NCT06092346

Phase 1

A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.

MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal inj…

Spasticity, MuscleMicrocephalyIntellectual Deficiency+3 more

Estimated

~$10 – $8,750

Elpida Therapeutics SPCNCT05518188

Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot

The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diag…

Hereditary Spastic ParaplegiaPrimary Lateral SclerosisSPG4+6 more

Estimated

~$10 – $750

Boston Children's HospitalNCT06553976

Observational

Noninvasive Spinal Cord Neuromodulation to Enhance Motor Function in Individuals With Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a rare neurological condition that causes stiffness, weakness, and difficulty walking due to damage in the nerves that c…

Hereditary Spastic Paraplegia

Estimated

~$10 – $7,500

Rahul SachdevaNCT07417943

Observational

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

This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adult…

Neuromuscular Diseases (NMD)Amyotrophic Lateral SclerosisMyasthenia Gravis+15 more

Estimated

~$10 – $6,250

University of Missouri-ColumbiaNCT07478172

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biolog…

Hereditary Spastic ParaplegiaSPG47SPG50+8 more

Estimated

~$10 – $750

Boston Children's HospitalNCT04712812

Phase 3

Intrathecal Administration of MELPIDA (AAV9/AP4M1) For Hereditary Spastic Paraplegia Type 50 (SPG50): A Phase 3, Open-Label Trial With Matched Prospective Concurrent Control Arm

Phase 3, open-label study to assess the efficacy and safety of a single lumbar intrathecal administration of MELPIDA in individuals with Hereditary Spastic Par…

Hereditary Spastic Paraplegia Type 50

Estimated

~$10 – $8,750

Elpida Therapeutics SPCNCT06692712

Investigating the Genetic Basis of Hereditary Spastic Paraplegia

The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSP…

Hereditary Spastic ParaplegiaNeurodegenerative DiseasesPediatric Disorder+3 more

Estimated

~$10 – $750

Boston Children's HospitalNCT05354622

Phase 1

Safety and Efficacy of AAV9/AP4B1 For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration

Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of…

HSPHereditary Spastic ParaplegiaHereditary Spastic Paraparesis+10 more

Estimated

~$10 – $8,750

BlackfinBio LtdNCT06948019

A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

Mitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic Paraplegia+4 more

Estimated

~$10 – $750

University of California, San DiegoNCT05848271