Natural History Study of Patients with HPDL Mutations

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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorUniversity of California, San Diego

About this trial

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

Eligibility criteria

Qualifiers

Any individuals diagnosed with HPDL variants

HPDL-related hereditary spastic paraplegia (HSP)

HPDL-related neonatal mitochondrial encephalopathy

Spastic paraplegia -83 (SPG83)

Disqualifiers

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

Trial design

Treatments tested in this trial

Patient Registry
Dry blood spots sampling

Treatment groups

50 Participants

are divided into 1 treatment group

Locations

Eun Hae Lee92093, San DiegoCalifornia, United States

Sponsors and collaborators

University of California, San Diego

Lead sponsor

New York University

Collaborator

Universität Tübingen

Collaborator

Heinrich-Heine University, Duesseldorf

Collaborator

Source ClinicalTrials.gov