Recruiting

Observational Study

Sponsor:

UCLA

Code:

NCT05848271

Conditions

Mitochondrial Encephalomyopathies

Hereditary Spastic Paraplegia

Spastic Paraplegia

White Matter Disease

Neonatal Encephalopathy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Patient Registry

Dry blood spots sampling

Study Details

Brief summary:

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

Study ID

NCT05848271

Start date

May 18, 2023

Status verified date

Mar, 2025

Completion date

Dec 31, 2027

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Arms

HPDL deficiency

Patients with HPDL mutations

Interventions

Patient Registry

Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.

Dry blood spots sampling

Dry blood splots require 500nl of blood.

Primary outcome measure

  • Clinician questionnaire [ Time Frame: 12 months ]

Central Contacts and Locations

Central contacts

Eun Hae Lee

8582460547gleesonlab@health.ucsd.edu

Locations

Eun Hae Lee

Recruiting

San Diego, California, United States, 92093

Contacts

Eun Hae Lee

8582460547leeeh80@gmail.com

More Information

Sponsor

University of California, San Diego

Last update posted

Mar 30, 2025

Last verified

Mar, 2025

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, San Diego on 2025-03-30.