Natural History Study of Patients with HPDL Mutations (NCT05848271) | Clinical Trial Compass
RecruitingNot Applicable
Natural History Study of Patients with HPDL Mutations
United States50 participantsStarted 2023-05-18
Plain-language summary
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Who can participate
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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