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NCT Number: NCT05848271

Natural History Study of Patients with HPDL Mutations

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

Recruiting

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Key information

Conditions

Mitochondrial Encephalomyopathies Brain Diseases Brain Diseases, Metabolic Central Nervous System Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Disease Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Hereditary Spastic Paraplegia Heredodegenerative Disorders, Nervous System Leukoencephalopathies Metabolic Diseases Mitochondrial Diseases Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Mutation Neonatal Encephalopathy Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases Nutritional and Metabolic Diseases Paralysis Paraplegia Pathological Conditions, Signs and Symptoms Peripheral Nervous System Diseases Polyneuropathies Signs and Symptoms Spastic Paraplegia Spastic Paraplegia, Hereditary White Matter Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

Eun Hae Lee

San Diego, California, 92093, United States

Location status: Recruiting

Location contact

Eun Hae Lee

CONTACT

[email protected]

8582460547

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Patient Registry

Other

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

Dry blood spots sampling

Other

Dry blood splots require 500nl of blood.

Primary outcomes

  1. Clinician questionnaire

    Time frame: 12 months

    Clinician-reported clinical and genetic confirmation of HPDL mutations

Study contacts

Contact information is provided by the study sponsor or research team.

Eun Hae Lee

CONTACT

[email protected]

8582460547

Sponsors and collaborators

Lead sponsor

University of California, San Diego

Other

Collaborators

  • Heinrich-Heine University, Duesseldorf
  • New York University
  • Universität Tübingen

Registry information

Official study title

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

Important dates

Study start
2023
Primary completion
2026
Study completion
2027
First posted
May 8, 2023
Registry last updated
Mar 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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