Natural History Study of Patients With HPDL Mutations

Description

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

Conditions

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

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Study Overview

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Study Details

Study overview

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

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

Natural History Study of Patients With HPDL Mutations

Condition
Mitochondrial Encephalomyopathies
Intervention / Treatment

-

Contacts and Locations

San Diego

Eun Hae Lee, San Diego, California, United States, 92093

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)
  • * 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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of California, San Diego,

Joseph Gleeson, PRINCIPAL_INVESTIGATOR, UCSD

Study Record Dates

2024-12-31