Natural history study for people with HPDL gene changes
Part of Bones, joints & muscles, Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study follows people who have an HPDL gene change to better understand how symptoms and health progress over time. It may help clinicians learn more about the condition and plan future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed HPDL gene change (variant or mutation)
- Your diagnosis fits one of these: HPDL-related hereditary spastic paraplegia, SPG83, HPDL-related neonatal mitochondrial encephalopathy, or NEDSWMA
- You do not have any other known genetic condition besides the HPDL change
- Your study team does not think another health problem would make the study unsafe for you
- You are able to complete the study visits and required study activities
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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