Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan...
https://pubmed.ncbi.nlm.nih.gov/33188300Actively Recruiting
All Genders
ID05848271
A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
Led by University of California, San Diego · Updated on 2025-03-30
50
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
Sponsors
U
University of California, San Diego
Lead Sponsor
N
New York University
Collaborating Sponsor
AI-Summary
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.
CONDITIONS
Brief Title
Natural History Study of Patients with HPDL Mutations
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Individuals diagnosed with HPDL gene variants
- Clinical diagnosis including HPDL-related hereditary spastic paraplegia (HSP), HPDL-related neonatal mitochondrial encephalopathy, spastic paraplegia 83 (SPG83), or neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
You will not qualify if you...
- Presence of any known genetic abnormality other than HPDL mutation
- Any condition that the Site Investigator believes poses undue risk or would prevent study completion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Surveillance
Duration - 12 months
Participants who have HPDL mutations are enrolled in a patient registry to collect medical data and understand the natural history of the disease.
1 visit at baseline and follow-up assessments during the 12 months
Sample Collection
Duration - Throughout the study period
Dry blood spot samples are collected to develop biomarkers and better understand the disease.
Periodic blood spot sampling visits as scheduled
Trial Site Locations
Total: 1 location
1
Eun Hae Lee
San Diego, California, United States, 92093
Actively Recruiting
Loading map...
Research Team
E
Eun Hae Lee
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.
Robert S Banh, Esther S Kim, Quentin Spillier...
https://pubmed.ncbi.nlm.nih.gov/34471290HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Eun Hye Lee, Olivia Kim-Mcmanus, Jennifer H Yang...
https://pubmed.ncbi.nlm.nih.gov/40368591