Natural History Study of Pyruvate Dehydrogenase Deficiency
Research type
Research Study
Full title
Natural History Study of Pyruvate Dehydrogenase Deficiency
IRAS ID
278183
Contact name
Shamima Rahman
Contact email
Sponsor organisation
Great Ormond Street Hospital
Duration of Study in the UK
2 years, 0 months, 1 days
Research 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.
Together with the support of the Freya Foundation, we will undertake the first natural history study of PDH deficiency in the UK, in which we hope to describe the spectrum of symptoms, genetics, management and outcomes in both children and adult patients. We will also compare the management of patients treated at different tertiary centres throughout the UK so as to inform best practice and to standardise care in the form of a national guideline.
This will be a multi-centre study with Great Ormond Street Hospital (GOSH) as the lead site. Only pseudonymised clinical data from patients from other NHS sites nationally will be shared and analysed by the researchers, who also make up the clinical care team, at GOSH.REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
20/LO/0717
Date of REC Opinion
14 Jul 2020
REC opinion
Further Information Favourable Opinion