Natural History Study of Patients with HPDL Mutations

Recruiting now

Conditions studied: Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease, Neonatal Encephalopathy, Mutation, Genetic Disease

In brief

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

Key facts

Study ID

NCT05848271

Run by

University of California, San Diego

People needed

50

Starts

2023-05-18

Expected to finish

2027-12-31

Last updated by the study team

2025-03-30

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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)

You may not qualify if…

• 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

Where it is running

• Eun Hae Lee — San Diego, California, United States (enrolling)

Full record on ClinicalTrials.gov

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