RecruitingNCT05848271

Natural History Study of Patients with HPDL Mutations

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

Sponsor

University of California, San Diego

Enrollment

50 participants

Start Date

May 18, 2023

Study Type

OBSERVATIONAL

Conditions

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

Summary

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

Eligibility

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Dry blood spots sampling and Patient Registry for people with genetic disease, hereditary spastic paraplegia, and other related conditions. The study is currently recruiting participants at 1 location.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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