Natural History Study of Patients with HPDL Mutations

Launched by UNIVERSITY OF CALIFORNIA, SAN DIEGO · Apr 28, 2023

Keywords

ClinConnect Summary

**Summary of the Clinical Trial: Natural History Study of Patients With HPDL Mutations**

This study aims to learn more about a genetic condition caused by HPDL mutations, which can lead to various health issues like muscle stiffness, movement problems, and brain abnormalities. Researchers are looking at medical records of individuals with these mutations to understand how the conditions develop over time. The goal is to gather important information that can help improve care for patients with similar issues.

If you or a family member has been diagnosed with HPDL variants, you may be eligible to participate in this study. This includes those with conditions like hereditary spastic paraplegia (a type of movement disorder), neonatal mitochondrial encephalopathy (a brain condition in newborns), and other related disorders. Participants will not only help advance medical knowledge but may also gain insights into their own health conditions. The study is currently recruiting participants of all ages and genders. It's important to know that individuals with other known genetic issues or specific health conditions that could make participation risky will not be included.

Gender

ALL

Eligibility criteria

• 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