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Natural History Study of Patients with HPDL Mutations

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

Who can join

All ages · All sexes

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

About the study

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

What is being tested

• Patient Registry (other)
• Dry blood spots sampling (other)

Sponsor: University of California, San Diego · Participants: 50 · Started: May 18, 2023

Contact the study team

• Eun Hae Lee · Phone: 8582460547

Official record on ClinicalTrials.gov — NCT05848271

Locations in the U.S.

Conditions

• Hereditary Spastic Paraplegia
• Paraplegia
• Leukoencephalopathies
• Genetic Disorders

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.