Recruiting NCT05848271

Natural History Study of Patients with HPDL Mutations

Trial Parameters

Condition Mitochondrial Encephalomyopathies

Sponsor University of California, San Diego

Study Type OBSERVATIONAL

Phase N/A

Enrollment 50

Sex ALL

Min Age N/A

Max Age N/A

Start Date 2023-05-18

Completion 2026-12-31

All Conditions

Mitochondrial Encephalomyopathies Hereditary Spastic Paraplegia Spastic Paraplegia White Matter Disease Neonatal Encephalopathy Mutation Genetic Disease

Interventions

Patient RegistryDry blood spots sampling

Brief Summary

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

Eligibility Criteria

Inclusion Criteria: * Any individuals diagnosed with HPDL variants * Clinical diagnosis can include: * HPDL-related hereditary spastic paraplegia (HSP) * HPDL-related neonatal mitochondrial encephalopathy * Spastic paraplegia -83 (SPG83) * Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) Exclusion Criteria: * Any known genetic abnormality (other than HPDL mutation) * Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures

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