RECRUITING

Natural History Study of Patients With HPDL Mutations

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official Title

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

Quick Facts

Study Start:2023-05-01
Study Completion:2024-12-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05848271

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.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Any individuals diagnosed with HPDL variants
  2. * Clinical diagnosis can include:
  3. * HPDL-related hereditary spastic paraplegia (HSP)
  4. * HPDL-related neonatal mitochondrial encephalopathy
  5. * Spastic paraplegia -83 (SPG83)
  6. * Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
  1. * Any known genetic abnormality (other than HPDL mutation)
  2. * 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

Contacts and Locations

Study Contact

Eun Hae Lee
CONTACT
8582460547
gleesonlab@health.ucsd.edu

Principal Investigator

Joseph Gleeson
PRINCIPAL_INVESTIGATOR
UCSD

Study Locations (Sites)

Eun Hae Lee
San Diego, California, 92093
United States

Collaborators and Investigators

Sponsor: University of California, San Diego

  • Joseph Gleeson, PRINCIPAL_INVESTIGATOR, UCSD

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-05-01
Study Completion Date2024-12-31

Study Record Updates

Study Start Date2023-05-01
Study Completion Date2024-12-31

Terms related to this study

Keywords Provided by Researchers

  • HPDL
  • HPDL related neonatal mitochondrial encephalopathy
  • HPDL related hereditary spastic paraplegia
  • Spastic paraplegia-83
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Additional Relevant MeSH Terms

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