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Natural History Study of Pyruvate Dehydrogenase Deficiency

NCT05257005 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2023-12-05

No results posted yet for this study

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 combination of problems including seizures, poor balance, developmental delay, disability and have a reduced life expectancy. As for most mitochondrial disorders there is a lack of effective treatments. It is essential to understand the mechanisms underlying the disease in order to identify new treatments, and to understand the natural history of disease in order to prepare for clinical trials. To date, a natural history study of PDH deficiency has not been undertaken in the UK.

The researchers aim to undertake the first natural history study of PDH deficiency in the UK, to describe the spectrum of symptoms, genetics, management and outcomes in both children and adult patients.

Conditions

  • Pyruvate Dehydrogenase Complex Deficiency
  • Pyruvate Dehydrogenase E1 Alpha Deficiency
  • Pyruvate Dehydrogenase E1-Beta Deficiency
  • Pyruvate Dehydrogenase E2 Deficiency
  • Pyruvate Dehydrogenase Phosphatase Deficiency

Sponsors & Collaborators

  • The Freya Foundation

    collaborator UNKNOWN

  • National Institute for Health Research, United Kingdom

    collaborator OTHER_GOV

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    lead OTHER

Principal Investigators

  • Shamima Rahman, PhD · Great Ormond Street Hospital NHS Foundation Trust

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-01
Primary Completion
2024-08-01
Completion
2024-08-01

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05257005 on ClinicalTrials.gov