Status:
UNKNOWN
Natural History Study of Pyruvate Dehydrogenase Deficiency
Lead Sponsor:
Great Ormond Street Hospital for Children NHS Foundation Trust
Collaborating Sponsors:
The Freya Foundation
National Institute for Health Research, United Kingdom
Conditions:
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency
Eligibility:
All Genders
Brief Summary
Pyruvate dehydrogenase (PDH) deficiency is one of the most common mitochondrial disorders. Patients with this genetic condition have difficulty utilising carbohydrates to produce energy and develop a ...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
November 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 1 2024
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT05257005
Start Date
November 1 2020
End Date
August 1 2024
Last Update
December 5 2023
Active Locations (1)
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1
Great Ormond Street Hospital
London, United Kingdom