Research

As a charity, we are dedicated to helping improve the lives of those affected by PDH Deficiency and we have been working closely with medical professionals.

We are delighted and excited to inform you that we are now affiliated with MetabERN, the European Reference Network for Hereditary Metabolic Disorders, as a supporting patient partner. With this affiliation, we will be working closely with a wide range of medical professionals who help deliver the best care for those affected by rare metabolic disorders, specifically for us, PDH Deficiency.

We are also pleased to announce that our affiliation means working on a PDH deficiency guidelines project and assisting MetabERN with its social media campaigns. We aim to ensure that all health professionals have the most up-to-date and accurate information to enable the best treatments and care.

It has always been one of our ambitions to collaborate with medical professionals to create a better understanding of PDH Deficiency, this affiliation will ensure those affected by PDH Deficiency and the medical professionals involved will have clear information and guidance

NATURAL HISTORY STUDY

Title: Natural History of Pyruvate Dehydrogenase Deficiency

Clinical trials registration: NCT05257005

Sponsor: Great Ormond Street Hospital for Children NHS Foundation Trust

Funder: The Freya Foundation

Chief Investigator: Prof Shamima Rahman, UCL GOS Institute of Child Health

Status: recruiting

Recruitment period: 1/11/2020 - 01/08/2024

Pyruvate dehydrogenase complex (PDC) 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 to identify new treatments, and to understand the natural history of disease to prepare for clinical trials. To date, a natural history study of PDC deficiency has not been undertaken in the UK.

Together with the support of the Freya Foundation, metabolic and neurology centres throughout the UK have come together to undertake the first natural history study of PDC deficiency in the UK, in which the study’s investigators will describe the spectrum of symptoms, genetics, management and outcomes in both children and adult patients.

Investigators will collate all mutations in affected patients in the UK and identify genotype/phenotype correlations and predictors of disease severity.

Study investigators will also be able to assess management of patients treated at different centres throughout the UK to inform best practice and to inform the standardisation of care and formulation of national and international guidelines.

We at the Freya Foundation are dedicated to improve the lives of those affected by PDH deficiency.

We are committed to funding high quality research projects into PDH deficiency. Thanks to our generous supporters and fundraisers we use the money raised towards research projects in this field. Studies and research proposals will be considered in PDH deficiency only.

If you are interested and would like to out more about how to apply please contact us at thefreyafoundation@gmail.com