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Natural History Study of Pyruvate Dehydrogenase Deficiency

NCT ID: NCT05257005

Last Updated: 2023-12-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-11-01

Study Completion Date

2024-08-01

Brief Summary

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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.

Detailed Description

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Conditions

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

Keywords

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PDH deficiency Natural History Outcomes Prognosis Genotype-phenotype correlation Quality of life Outcome measures

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patient cohort

Non interventional study

No interventions assigned to this group

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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The Freya Foundation

UNKNOWN

Sponsor Role collaborator

National Institute for Health Research, United Kingdom

OTHER_GOV

Sponsor Role collaborator

Great Ormond Street Hospital for Children NHS Foundation Trust

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Shamima Rahman, PhD

Role: STUDY_DIRECTOR

Great Ormond Street Hospital NHS Foundation Trust

Locations

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Great Ormond Street Hospital

London, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Nandaki Keshavan, MA, MB BChir

Role: CONTACT

Phone: 020 7905 2608

Email: [email protected]

Vanshree Patel, PhD

Role: CONTACT

Phone: 0207 905 42271

Email: [email protected]

Facility Contacts

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Shamima Rahman, PhD

Role: primary

References

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Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord. 2006 Dec;16(12):814-20. doi: 10.1016/j.nmd.2006.08.006. Epub 2006 Nov 22.

Reference Type BACKGROUND
PMID: 17123819 (View on PubMed)

Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.

Reference Type BACKGROUND
PMID: 22896851 (View on PubMed)

Other Identifiers

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278183

Identifier Type: OTHER

Identifier Source: secondary_id

283427

Identifier Type: OTHER

Identifier Source: secondary_id

19GR12

Identifier Type: -

Identifier Source: org_study_id