An observational study in Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia and Spastic Paraplegia, sponsored by University of California, San Diego. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-03-30.
Sponsored by University of California, San Diego · Observational
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.
50 studies on the registry are indexed under Spastic Paraplegia, Hereditary; 19 are open to participants now.
This study's planned enrollment of 50 is below the median of 100 across 25 observational studies indexed under Spastic Paraplegia, Hereditary.
Browse Spastic Paraplegia, Hereditary studies →University of California, San Diego is the lead sponsor of 980 studies on the registry; 195 are open to participants now.
Of its 113 completed or terminated interventional studies of FDA-regulated products, 71 (63%) have results posted.
Counted across the registry records on this site, refreshed daily.
The gene HPDL has been linked to an infantile neurodegenerative condition. The affected patients have various clinical manifestations from spastic paraplegia to NEDSWMA. Severely affected patients exhibit developmental delay, seizures, and spasticity, and can lead to death.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Clinical diagnosis can include:
Exclusion Criteria:
Patients with HPDL mutations
Other: Patient Registry · Other: Dry blood spots sampling
Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.
Dry blood splots require 500nl of blood.
Clinician questionnaire
Clinician-reported clinical and genetic confirmation of HPDL mutations
Time frame: 12 months
Plan to share: No
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Spastic Paraplegia, Hereditary →
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