Research & Clinical Trials
Vascular EDS Research
Our Research Priorities
1. Improving Diagnosis & Management
vEDS is often diagnosed only after a major vascular event. We champion research that enables early, accurate, and non-invasive diagnosis, including studies that guide clinical management and improved long-term care.
2. Understanding the Lived Experience & Quality of Life
We prioritise research that captures the realities of living with vEDS, including daily challenges, psychological impacts, and broader quality-of-life outcomes. We support studies aimed at identifying modifiable factors and developing interventions that enhance wellbeing
3. Optimising Care Pathways & Emergency Preparedness
We support research that helps develop evidence-based, multidisciplinary care pathways, emergency protocols, and surgical decision-making models tailored to the unique tissue fragility associated with vEDS.
4. Developing Novel Therapeutics
We support the development of innovative treatments—from established pharmacological options to emerging regenerative and gene therapies that target the biological root of vEDS.
What we've achieved so far
- Funded vEDS research projects and programmes.
- Funded our first ever scientific research to create a vEDS zebra fish model.
- Established a PPIE group through our existing steering committee.
- Facilitated and recruited patients for 17 research projects.
- Hosted the world's first ever conference for vascular EDS patients and clinicians.
- Supported 2 x vEDS Clinical Trials.
- Supported MSc student Genetic Counsellors through Cardiff University.
- Collaborated with The EDS Society, EDS Support UK and The Marfan Foundation (VEDS Movement).
- Implemented our research priorities and governance strategy.
- Co-funded the creation of one of the largest rarer type EDS research databases in the world with EDS UK and the creation of The NEEDS Study.
Planning Research?
As a community, we believe research should reflect the priorities and lived experiences of people with vEDS and their families.
For all projects where we may be involved—whether through recruitment, co-design, advisory input, or evaluation—we prefer to be engaged from the earliest design phase. Early involvement allows us to work collaboratively with researchers to shape study design, ensure relevance and feasibility and make participation as safe, respectful and meaningful as possible.
If you are planning research involving the vEDS community, please reach out at the earliest stage. We want to collaborate and help make your study the best it can be.
Vascular EDS can take life in an instant. Help us change that.
VEDS Research & Clinical Trials
Research
To determine whether adults with genetically confirmed vEDS exhibit alterations in fat distribution, insulin sensitivity, and metabolic biomarkers compared with matched controls.
Lead Researcher
Dr Agnieszka Jakubowska, Clinical Research Associate/ Specialist Registrar (ST5) in Metabolic Medicine and Chemical Pathology at the University of Cambridge.
Research
Health-related anxiety and quality of life in individuals with Vascular Ehlers-Danlos Syndrome and their families.
Lead Researcher
Holly Rawlings-Taylor, 3rd-year student, University of Sussex.
Research
Family Conversations About vEDS: Adult Reflections on First Learning Their Diagnosis
Lead Researcher
May Roberts, MSc Genetic Counselling Student, Cardiff University.
Eligibility
Adults in the UK from the vEDS community.
Status
Research Proposal Stage & PPIE
Research
Elucidating functional significance of ‘Variants of Uncertain Significance’ by generating and characterising a zebrafish model for Vascular Ehlers-Danlos Syndrome.
Lead Researcher
Prof Meena Balasubramanian, Consultant Clinical Geneticist and Senior Clinical Lecturer, University of Sheffield and Sheffield Children’s NHS Foundation Trust.
Research
Developing a lifestyle intervention programme aiming to support adults with vascular Ehlers Danlos Syndrome (vEDS)
Lead Researcher
Ian Thistlewood, Qualified Physiotherapist and PhD Student.
Research
This research study is looking at ways to help people affected by vascular Ehlers Danlos Syndrome (vEDS) to talk about the condition in their family.
Lead Researcher
Claire Green, Genetic Counsellor, EDS National Diagnostic Service in Sheffield.
Eligibility
UK adult patients genetically confirmed diagnosed vEDS.
Status
Recruitment Closed
Research
Investigating the oral manifestations of Ehlers Danlos Syndrome.
Lead Researcher
Jim Scott, Restorative Academic Clinic Fellow at The University of Sheffield.
Eligibility
UK adult patients genetically confirmed diagnosed vEDS or cEDS.
Status
Recruitment Closed
Research
Diagnosis and Management of Vascular Ehlers-Danlos syndrome: Experience of the UK National Diagnostic Service, Sheffield.
Lead Researchers
EDS National Diagnostic Service, Sheffield Northern General Hospital.
Research
Exploring how living with Vascular Ehlers-Danlos Syndrome effects partner relationships and family planning.
Lead Researcher
Angharad Cullinane, Pre-Registration Genetic Counsellor at NHS Wales.
Eligibility
UK adult patients genetically confirmed diagnosed vEDS.
Status
Recruitment closed
Research
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.
Lead Researcher
Dr Fleur van Dijk, EDS National Diagnostic Service in London.
Eligibility
UK adult patients genetically confirmed diagnosed rare EDS types.
Status
Live
Clinical Trial
Zevra Therapeutics are conducting a clinical trial in the U.S. to evaluate the efficacy of a medicine known as celiprolol for the treatment of Vascular Ehlers-Danlos Syndrome (VEDS).
Sponsored by
Zevra Therapeutics.
Research
What is the psychosocial impact of living with Vascular Ehlers-Danlos Syndrome?
Lead Researcher
Leanne Barrett, Genetic Counsellor, Great Ormond Street Hospital in London.
Research
Exploring Vascular Ehlers-Danlos Syndrome Patients’ Perception of Diagnosis, Treatment, and Access to Ongoing Care.
Lead Researchers
Taylor Speziale, Charlotte Cowan & Kaitlyn Johnston, MSc Genetic and Genomic Counselling students.
Research
Understanding the Utilization of PGT Among Individuals with Inherited Aortic or Vascular Disease.
Lead Researcher
Kaleigh Patton, Genetic Counsellor, Boston.
Annabelle's Challenge & EDS Service Collaboration
A unique collaborative model providing supportive and self-advocacy tools to the rare disease community.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk.
This is a great example of collaborative work of the EDS Service, a highly specialised service commissioned by NHS England and Annabelle's Challenge Vascular EDS Charity including health care professionals, patients, carers and members of the emergency care project team.
The recommendations from this unique collaborative model include eight specific domains of self-advocacy: increasing knowledge of rare disease, taking care of mental well-being, taking care of physical well-being including routine care, the development of good working relationships between patients and health care professionals, information accessibility, emergency preparedness, taking part in education and outreach, and involvement in research and feedback opportunities.
Highlights
- Having a rare disease presents a unique set of health care challenges.
- Self-advocacy can help people with a rare disease get their needs met.
- Empowering health care professionals in rare disease is important.
- Specialised services are uniquely placed to help people with rare diseases.
- Collaborations between patients and health care professionals support self-advocacy.
Steering Committee & PPIE Group
Working directly for the charity and the community we serve.
The steering committee and PPIE group help to shape the future of the charity as it continues to grow providing support, guidance and oversight of progress of all vEDS community based projects including research. The team is made up of volunteers who are directly touched by vascular EDS including patients, parents and carers, they are also supported by genetic counsellors from the NHS EDS National Diagnostic Service.
Our Research Lead is Claire Green, Genetic Counsellor, Sheffield EDS Service.
NEEDS Study
