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Natural History Study of Patients with HPDL Mutations

Recruitingn/aAges any - anyAllUniversity of California, San Diego
NCT05848271 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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

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📋 Eligibility rules (as published)
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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What it tests

  • Patient Registry
  • Dry blood spots sampling
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Where

1 site
Eun Hae Lee
San Diego, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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