NEEDS Study

Charity funding leads to 10 year study of rare EDS types

Research funded by EDS UK and Annabelle’s Challenge in 2019 has led to a new 10 year study of rare types of Ehlers-Danlos syndromes (EDS). The Natural history Exploration of rare EDS types (the NEEDS study) will be led by Dr Fleur van Dijk in collaboration with Dr Neeti Ghali from the National EDS Diagnostic Service at London North West University Healthcare NHS Trust and with other consultants from Great Ormond Street Hospital and St Bartholomew’s Hospital.

The NEEDS study aims to increase knowledge about the clinical and genetic features of children and adults with rare types of EDS by having, amongst other things, a research database. This has the potential to improve the management of the different rare EDS types, to enable the discovery of more genetic causes which might be associated with them and to develop potential for new and improved therapies.

Although progress has been made in the diagnosis and management of rare EDS types in recent years, there is still a clear need for improvement. For many inherited genetic conditions, including rare EDS types, the way the conditions affect different people over time, 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 specialised clinics exist for adults with rare heritable connective tissue conditions such as EDS. As such, there is a lack of evidence-based management guidelines.

Kay Julier – Managing Director of EDS UK "This study demonstrates the potential of even small amounts of research funding and shows what can be achieved through collaboration. EDS UK was proud to partner with Annabelle’s Challenge to fund the original vEDS research database and we couldn’t be more pleased to see this work develop into the NEEDS study."

The careful documentation of clinical features in affected individuals along with increased possibilities of diagnostic genetic testing have enabled diagnosis of these conditions much earlier in life. However, despite advances in genetic testing, in a number of individuals with clinical features of a rare type of EDS, the underlying genetic cause has still not been identified.

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 impact of the conditions and increase quality of life for those affected.

Jared Griffin - Founder & CEO of Annabelle's Challenge "We were delighted to co-fund the original vEDS research database project with EDS UK, through this collaborative work it has enabled us to sow the seed for future vEDS research and we are delighted that this has now paved the way with the development of the NEEDS study."

The 2019 funding from EDS UK and Annabelle’s Challenge paved the way for the NEEDS study by enabling the research team to develop a research plan and clear research questions with regard to their vascular EDS (vEDS) patients. These observations attracted interest from other clinicians and researchers. As a result, Imperial Biomedical Research Centre funding was received which enabled funding of the NEEDS study covering all rare EDS types.

Thank you to supporters of EDS UK and Annabelle’s Challenge whose generous donations have made this work possible.