University of California, San Diego
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
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.
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 procedu…
Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.
Dry blood splots require 500nl of blood.
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