Patient Registry and Study of the Natural History in People with Biallelic HPDL Mutations Including Conditions Like Hereditary Spastic Paraplegia and Neonatal Mitochondrial Encephalopathy

What this Trial Is About

This research aims to understand the natural history of a rare mitochondrial disease caused by mutations in the HPDL gene, which produces the 4-hydroxyphenylpyruvate dioxygenase-like protein. The study will establish a patient registry to collect medical data from individuals worldwide who have these HPDL mutations. By analyzing these data over time, researchers hope to clarify how the disease progresses and how different genetic changes relate to symptoms. Participants diagnosed with HPDL mutations will be enrolled in the patient registry. The study also involves collecting dry blood spots requiring a small blood sample to help develop biomarkers for better understanding the disease. There are no treatment interventions this is an observational study that gathers and monitors health information. During the study, participants medical records will be reviewed to extract clinical information, and clinicians will complete questionnaires over 12 months to assess disease features. Blood samples will be collected to support biomarker research. The study is ongoing with long-term follow-up and aims to gather comprehensive data to support future research and care improvements for patients with HPDL mutations.

Natural History Study of Patients with HPDL Mutations