Ignite Creation Date:
2025-12-25 @ 3:23 AM
Ignite Modification Date:
2025-12-26 @ 2:01 AM
Study NCT ID:
NCT05257005
Status:
RECRUITING
Last Update Posted:
2023-12-05
First Post:
2022-02-02
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Natural History Study of Pyruvate Dehydrogenase Deficiency
Sponsor:
Great Ormond Street Hospital for Children NHS Foundation Trust
Organization:
Study Overview
Official Title:
Natural History Study of Pyruvate Dehydrogenase Deficiency
Status:
RECRUITING
Status Verified Date:
2023-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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.
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:
None
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: