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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05848271
Other study ID # HPDL_NHS_001
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date May 1, 2023
Est. completion date December 31, 2024

Study information

Verified date April 2023
Source University of California, San Diego
Contact Eun Hae Lee
Phone 8582460547
Email gleesonlab@health.ucsd.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations


Description:

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.


Recruitment information / eligibility

Status Recruiting
Enrollment 50
Est. completion date December 31, 2024
Est. primary completion date December 31, 2024
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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 procedures

Study Design


Intervention

Other:
Patient Registry
Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.
Dry blood spots sampling
Dry blood splots require 500nl of blood.

Locations

Country Name City State
United States Eun Hae Lee San Diego California

Sponsors (4)

Lead Sponsor Collaborator
University of California, San Diego Heinrich-Heine University, Duesseldorf, New York University, Universität Tübingen

Country where clinical trial is conducted

United States, 

References & Publications (2)

Banh RS, Kim ES, Spillier Q, Biancur DE, Yamamoto K, Sohn ASW, Shi G, Jones DR, Kimmelman AC, Pacold ME. The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway. Nature. 2021 Sep;597(7876):420-425. doi: 10.1038/s41586-021-03865-w. Epub 2021 Sep 1. — View Citation

Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, Pan D, Lubbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med. 2021 Mar;23(3):524-533. doi: 10.1038/s41436-020-01010-y. Epub 2020 Nov 14. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Primary Clinician questionnaire Clinician-reported clinical and genetic confirmation of HPDL mutations 12 months
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