Understanding the natural history of Pyruvate Dehydrogenase deficiency

Natural History Study of Pyruvate Dehydrogenase Deficiency

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
• Enrollment: 50 (estimated)
• Sex: All
• Sponsor: Great Ormond Street Hospital for Children NHS Foundation Trust (Academic / other)
• Locations: 1 site (London)
• Trial ID: NCT05257005 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals with a clinical history compatible with PDH deficiency and confirmed enzymatic or genetic evidence of the condition.

Not a fit: Patients with secondary PDH deficiency, who have a genetic diagnosis unrelated to primary PDH deficiency, may not benefit from this study.

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 performed: While this specific natural history study is novel in the UK, similar studies in other regions have provided valuable insights into mitochondrial disorders.

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.

Where this trial is running

London

• Great Ormond Street Hospital — London, United Kingdom (Recruiting)

Study contacts

• Study coordinator: Nandaki Keshavan, MA, MB BChir

Conditions Pyruvate Dehydrogenase Complex Deficiency; Pyruvate Dehydrogenase E1 Alpha Deficiency; Pyruvate Dehydrogenase E1-Beta Deficiency; Pyruvate Dehydrogenase E2 Deficiency; Pyruvate Dehydrogenase Phosphatase Deficiency; PDH deficiency; Natural History; Outcomes