This is an observational study for individuals with HPDL gene mutations. The study aims to understand how conditions like Hereditary Spastic Paraplegia (HSP) and Neonatal Encephalopathy develop over time in people with these mutations. You can join if you have been diagnosed with an HPDL variant, which includes conditions like HPDL-related hereditary spastic paraplegia (SPG83) or neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA). The main goal is to collect medical information through a patient registry and gather dry blood spot samples to learn more about the disease. The study will assess your clinical information using a questionnaire after 12 months.

Study design

This is an observational study with a planned enrollment of 50 participants. It involves creating a patient registry.

What's involved

You would be enrolled in a patient registry and provide dry blood spot samples. Your medical records will be used for data extraction.

Compensation

Not stated in the trial record.

Follow-up

Your clinical information will be assessed at 12 months using a clinician questionnaire.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.