Natural History Study of Pyruvate Dehydrogenase Deficiency

Launched by GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST · Feb 16, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a genetic condition called pyruvate dehydrogenase (PDH) deficiency, which affects how the body uses carbohydrates to make energy. People with this condition often experience a range of symptoms such as seizures, difficulties with balance, delays in development, and a shorter life expectancy. Since there are currently no effective treatments available for PDH deficiency, this study aims to gather important information about the symptoms, genetics, and management of the condition in both children and adults. This is the first study of its kind in the UK and will help researchers understand the disease better, which is crucial for finding new treatments in the future.

To participate in this trial, individuals must have a history of symptoms related to PDH deficiency and meet specific criteria, such as having a confirmed reduced enzyme activity in their cells or a known genetic mutation linked to the condition. Participants can expect to undergo assessments that will help researchers learn more about their experiences and the effects of the disease. It's a valuable opportunity for those affected to contribute to the understanding of PDH deficiency, which could ultimately lead to better care and treatment options in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Compatible clinical history AND
• • 2a Enzymatic confirmation demonstrating reduced PDH activity in patient cells or muscle tissue OR
• • 2b Confirmed pathogenic mutation in a gene associated with primary PDH deficiency (PDHA1, PDHB, PDHX, PDP1, DLAT) OR
• • 2c First degree relative with a confirmed pathogenic mutation causing primary PDH deficiency
• Exclusion Criteria:
• • Patients with 'secondary PDH deficiency' that is patients who meet criteria 1 and 2a but who have received a genetic diagnosis which confirms pathogenic variants in a gene not associated with primary PDH deficiency.