NEEDS study
Research type
Research Study
Full title
Natural history Exploration of rare EDS types
IRAS ID
262302
Contact name
Fleur S. van Dijk
Contact email
Sponsor organisation
Imperial College
Duration of Study in the UK
10 years, 0 months, 3 days
Research summary
This research project will focus on the rare Ehlers-Danlos Syndromes (EDS) which is defined as a group of heritable connective tissue disorders with key features of joint hypermobility, skin and vascular fragility and generalized connective tissue friability. Although progress has been made with regard to diagnosis and management, there is still a clear need for improvement.
Firstly, for many inherited genetic conditions, including rare EDS types, the natural history is largely unknown or not carefully documented in the literature. Many affected individuals that were diagnosed in childhood are lost to follow-up and few specialized clinics exist for adults with rare heritable connective tissue conditions such as EDS. As such, there is a lack of evidence-based management guidelines.
Secondly, careful documentation of clinical features in affected individuals along with increased possibilities of diagnostic genetic testing, including whole exome sequencing, has enabled diagnosis of the above conditions much earlier in life. Whole genome sequencing (WGS)has been applied in a research setting in the UK on a large scale through the delivery of the 100,000 genomes project (100K Project), a research project with the aim of sequencing 100,000 genomes from NHS patients with a rare disease or cancer. However, in a number of individuals with clinical features of monogenic EDS, the underlying genetic cause has still not been identified.
Thirdly, current management strategies are often aimed at symptom management and are unable to address the underlying cause. More investment is needed to identify therapies that can significantly reduce the disease burden, reduce mortality rates, and increase quality of life in patients with inherited connective tissue disorders.
The overall aim of this project is to increase knowledge about the clinical and genetic features of individuals (children AND adults) with rare EDS types to improve management, enable gene discovery, and develop potential for new and improved therapies.REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
22/NE/0028
Date of REC Opinion
24 Mar 2022
REC opinion
Further Information Favourable Opinion