Understanding the natural history of Pyruvate Dehydrogenase deficiency
Official title: Natural History Study of Pyruvate Dehydrogenase Deficiency
Run by Great Ormond Street Hospital for Children NHS Foundation Trust · NCT05257005 · Data updated 2026-05-14
This study is no longer in our active list. It may have stopped recruiting or finished. The details below are as of 2026-05-14 and are kept for reference. Check ClinicalTrials.gov for its current status, or see similar studies below.
This study looks at how Pyruvate Dehydrogenase deficiency affects people of all ages by tracking their symptoms and treatment experiences to help find better ways to manage the condition in the future.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | Great Ormond Street Hospital for Children NHS Foundation Trust Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT05257005 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with a clinical history compatible with PDH deficiency and confirmed enzymatic or genetic evidence of the condition.
✕Probably not a fit
Patients with secondary PDH deficiency, who have a genetic diagnosis unrelated to primary PDH deficiency, may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to investigate the natural history of Pyruvate Dehydrogenase (PDH) deficiency, a common mitochondrial disorder that affects energy production in the body. Researchers will collect data on the spectrum of symptoms, genetic factors, management strategies, and outcomes in both children and adults diagnosed with this condition. By understanding the mechanisms and progression of PDH deficiency, the study seeks to lay the groundwork for future clinical trials and potential treatments. This is the first such study to be conducted in the UK.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of PDH deficiency, ultimately improving patient outcomes.
How similar studies have gone: While this specific natural history study is novel in the UK, similar studies in other regions have provided valuable insights into mitochondrial disorders.
Who can join: the full rules
Show full inclusion / exclusion 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.
Where it's running
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Great Ormond Street Hospital
London, United Kingdom Recruiting
Study contacts
- Study coordinator: Nandaki Keshavan, MA, MB BChir
- Email: n.keshavan@ucl.ac.uk
- Phone: 020 7905 2608
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.