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NCT05257005
Natural History Study of Pyruvate Dehydrogenase Deficiency
trial in Pyruvate Dehydrogenase Complex Deficiency in 50 participants. Status unknown.
1 August 2024
Quick facts
| Lead sponsor | Great Ormond Street Hospital for Children NHS Foundation Trust |
|---|---|
| Status | Status unknown |
| Study type | OBSERVATIONAL |
| Enrollment | 50 |
| Start date | 1 November 2020 |
| Primary completion | 1 August 2024 |
| Estimated completion | 1 August 2024 |
| Sites | 1 location across United Kingdom |
Conditions studied
- Pyruvate Dehydrogenase Complex Deficiency — all drugs for Pyruvate Dehydrogenase Complex Deficiency →
- Pyruvate Dehydrogenase E1 Alpha Deficiency — all drugs for Pyruvate Dehydrogenase E1 Alpha Deficiency →
- Pyruvate Dehydrogenase E1-Beta Deficiency — all drugs for Pyruvate Dehydrogenase E1-Beta Deficiency →
- Pyruvate Dehydrogenase E2 Deficiency — all drugs for Pyruvate Dehydrogenase E2 Deficiency →
Sponsor
Great Ormond Street Hospital for Children NHS Foundation Trust
Who can join
Eligibility, any sex, with Pyruvate Dehydrogenase Complex Deficiency or Pyruvate Dehydrogenase E1 Alpha Deficiency. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT05257005
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Related trials
Other recruiting trials for Pyruvate Dehydrogenase Complex Deficiency
Currently open trials in the same condition.
- NCT06340685 — Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency · Phase 1 · recruiting
- NCT02616484 — Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: · Phase 3 · active not recruiting
Other Great Ormond Street Hospital for Children NHS Foundation Trust trials
Trials by the same sponsor.
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- NCT06770335 — The FLaME Cognitive Rehabilitation Study for Childhood Brain Tumour · NA · not yet recruiting
- NCT06899581 — Gut Health in Children With Cancer · recruiting
- NCT06481527 — Seen and Be Heard: Ensuring Fair Cancer Care for All Children · not yet recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT05257005 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Great Ormond Street Hospital for Children NHS Foundation Trust
- Last refreshed: 5 December 2023
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT05257005.
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