Research & Clinical Trials
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Vascular EDS Research
- Funded vEDS research projects and programmes.
- Funded the creation of one of the largest vascular EDS research databases in the world with EDS UK.
- Facilitated and recruited patients for 8 research projects.
- Work closely with the NHS EDS National Diagnostic Service.
- Launched regional support groups and a vEDS steering group.
- Hosted the world's first ever conference for vascular EDS patients and clinicians.
- Stakeholders in the international VEDS Collaborative Group.
- Supported vEDS Clinical Trials.
- Supported MSc trainee Genetic Counsellors through Cardiff University.
VEDS Research & Clinical Trials
Research Project
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
Eligibility
UK adult patients genetically confirmed diagnosed vEDS.
Status
Recruitment Closed
Research Project
Understanding the barriers to diagnosis and care for patients with molecularly defined/rare EDS, including vEDS.
Lead Researcher
Colin Halverson, PhD, bioethicist.
Research Project
The aim of this study is to examine the quality of life and social support of parents/guardians of people with Ehlers-Danlos Syndrome (EDS)/Hypermobility Spectrum Disorder (HSD).
Lead Researcher
Eloise Crowson, Master's Student, University of Surrey
Eligibility
Parent/guardian of a person with a formal diagnosis of EDS/HSD. Your child or dependent can be of any age (i.e. they can be a child or an adult). You also must live with or be in close contact to your child with EDS/HSD and not have a diagnosis of EDS/HSD yourself.
Status
Recruiting
Research Project
Investigating the oral manifestations of Ehlers Danlos Syndrome.
Lead Researcher
Jim Scott, Restorative Academic Clinic Fellow
Eligibility
UK adult patients genetically confirmed diagnosed vEDS or cEDS.
Status
Recruitment Closed
Research Project
Diagnosis and Management of Vascular Ehlers-Danlos syndrome: Experience of the UK National Diagnostic Service, Sheffield
Lead Researchers
EDS Service, Sheffield
Research Project
Exploring how living with Vascular Ehlers-Danlos Syndrome affects partner relationships and family planning.
Lead Researcher
Angharad Cullinane, MSc Genetic and Genomic Counselling Student and Trainee Genetic Counsellor
Eligibility
UK adult patients genetically confirmed diagnosed vEDS.
Status
Recruitment closed
Research Programme
Vascular EDS exercise and wellbeing research to test the effectiveness of a novel, online lifestyle intervention based on exercise for adults with vEDS.
Lead Researcher
Markos Klonizakis, Professor of Vascular and Clinical Physiology
Eligibility
UK adult patients genetically confirmed diagnosed vEDS.
Status
Currently recruiting PhD student
Research Project
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
Eligibility
UK adult patients genetically confirmed diagnosed rare EDS types.
Status
Ongoing
Clinical Trial
VEDS Clinical Trial. The trial will study the investigational oral compound, enzastaurin, for its inhibition of the protein kinase C (PKC) pathway.
Sponsored by
Aytu BioPharma
Clinical Trial
Zevra Therapeutics plans to conduct 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 Project
What is the psychosocial impact of living with Vascular Ehlers-Danlos Syndrome?
Lead Researcher
Leanne Barrett, Genetic Counsellor
Research Project
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 Project
Understanding the Utilization of PGT Among Individuals with Inherited Aortic or Vascular Disease.
Lead Researcher
Kaleigh Patton
Research Project
Creation of VEDS Research Database at Northwick Park Hospital, London.
Lead Researchers
Dr Neeti Ghali & Dr Fleur van Dijk, Consultant clinical geneticists.
Research Project
Natural history study to define the contribution of known VEDS gene mutations to VEDS complications and outcomes.
Lead Researcher
Dr Sherene Shalhub, Vascular Surgeon.
New Paper Published!
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.
Research Update
- Collect all sequence data from testing laboratories and facilitate contact with all individuals with pathological variants and those with variants of unknown significance (VUS) for follow-up.
- Create animal models with common types of mutations - heterozygous substitutions for glycine in the triple helical domain and splice site mutations.
- Develop clinical trials for small molecular intervention.
- Develop models for genetic intervention.
- Create an international web-based registry of individuals with vascular EDS with permission to contact and re-contact for both clinical information and involvement in clinical trials.
VEDS Steering Group
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COL3A1
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