Natural History Study of Patients with HPDL Mutations

University of California San Diego

Status: Enrolling

Conditions: Mitochondrial Encephalomyopathies; Spastic Paraplegia; Hereditary Spastic Paraplegia; Neonatal Encephalopathy; Genetic Disease; White Matter Disease; Mutation

Treatments: Other: Dry blood spots sampling; Other: Patient Registry

Study type: Observational

Funder types: Other

Identifiers

NCT05848271

HPDL_NHS_001

Details and patient eligibility

About

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

Full description

A novel mitochondrial disease arises from mutations in HPDL, which codes for 4-hydroxyphenylpyruvate dioxygenase-like protein. The main purpose of this study is to establish a patient registry to gather medical data from consenting HPDL mutation patients worldwide. From longitudinal data, we will be able to figure out the natural history of the disease, and genotype-phenotype correlation. Dry blood spots will be collected to develop biomarkers to understand the disease better.

Enrollment: 50 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

50 participants in 1 patient group

HPDL deficiency

Description:

Patients with HPDL mutations

Treatment:

Other: Patient Registry

Other: Dry blood spots sampling