Rare Disease Group

The main objectives of the Fibromuscular Dysplasia Rare Disease Group are to:

  • Raise awareness and provide advice about the best strategy for the diagnosis and management of this still underdiagnosed disease.
  • Study the presentation of the disease and baseline patient demographics.
  • Study the prevalence of different subtypes of Fibromuscular Dysplasia, the incidence and determinants of disease progression/extension and complications
  • Develop a Register of long term impact of intervention, as part of RaDaR

FMD group update February 2019

The RDG will initially focus on a review of current evidence to provide guidance on:

  • who to screen
  • family screening
  • managing children and adults with Fibromuscular Dysplasia
  • molecular testing
  • monitoring disease progression
  • management of hypertension.

UK Fibromuscular Dysplasia (FMD) Study

IRAS 291394, Northern Care Alliance R&I Reference: S21CDV03-S

We are delighted to announce that the UK FMD Study gained full ethical and final local sponsorship approval on 01/09/2022. Salford Royal Care Organisation, part of the Northern Care Alliance, are the principal site and any centres wishing to join this initiative will be onboarded in stages. Dr Constantina (Tina) Chrysochou is the Principal Investigator. This study is the ‘UK branch’ of the well-established European and International FMD initiative (FEIRI) at https://clinicaltrials.gov/ct2/show/NCT04804683.

The aim and objectives of the UK FMD Study are:

  1. Establish a UK Fibromuscular Dysplasia (FMD) database which aligns to the well- established European and International Initiative (FEIRI)
  2. Establish a comprehensive medical and imaging resource including a wide range of presentations of FMD to allow for meaningful data analysis.
  3. To standardise screening and data collection of FMD in the UK
  4. Offer a platform of collaboration for Europe wide and International FMD related projects.

Secondary objectives

  1. Establish a network of FMD centres across the UK incorporating both paediatric and adult services.
  2. Improve knowledge and raise awareness of FMD amongst the medical community
  3. Contribute to the set of large genome wide association study/whole exome study likely to identify genes related to the origin of FMD

Specific research questions

  • Investigate the epidemiology, clinical presentation, management, and outcomes of FMD
  • Describe the characteristics of FMD in men and women, older and younger patients, according to different arterial manifestations (multifocal versus focal FMD) and ethnic origin to individualize management.
  • Identify specific risk factors associated with the onset and progression of FMD such as exposure to smoking or hormonal agents such as OCP/HRT
  • Identify predictors of multivessel disease and of presence of FMD related aneurysms and/or dissections.
  • Identify characteristics associated with increased risk of complications such as dissection, aneurysms, stroke, or myocardial infarction.
  • Identify commonalities and differences between FMD, SCAD and so called atypical FMD.

Practicalities

  • Whilst enrolment into RADAR FMD is portfolio funded, participation in the UK FMD Study is not
  • Centres will be onboarded in stages. Please contact Dr Chrysochou or your local PI to get started
  • This is an epidemiological study and questionnaire information will be directly uploaded into a secure platform
  • One radiological image showing the most representative FMD lesion is to be sent via a secure platform
  • Serology, urine and DNA sample collection is optional. Please either arrange local transport to the dedicated lab in Belgium or storage space has been secured at Salford Royal Hospital

Please contact any of the FMD RDG group to find out how to participate

The group have liaised with Dr Persu who has a longstanding interest in Fibromuscular Dysplasia with international links and established the European Fibromuscular Dysplasia registry.

The Fibromuscular Dysplasia Society of UK & Ireland is a patient group with the mission of supporting people affected by FMD, raising awareness about FMD with health care professionals and supporting research into FMD. For more information please see:

Facebook: www.facebook.com/FibromuscularDysplasiaSocietyUKandIreland

Twitter: twitter.com/FmdsUk

Rare Connect: www.rareconnect.org/en/community/fibromuscular-dysplasia

There is also the very active Fibromuscular Dysplasia Society of America.

Patient Information Day Write-Up

The Fibromuscusular Dysplasia Rare Disease Group have produced an update on their recent patient information day in Salford and a review of current literature.

FMD group update

Fibromuscular Dysplasia RDG Annual Report 2019 – 2020

RDG Lead(s)
  • Dr Tina Chrysochou, Consultant Nephrologist, Salford Royal Hospital RDG Lead
Patient representative(s)
  • Victoria Warnes
  • Helen Peake
  • Danielle Worsfold
Other members
  • Prof David Adlam, Professor of Acute and Interventional Cardiology, Honorary Consultant Interventional, Cardiologist, University of Leicester
  • Dr Neeraj (Bean) Dhaun, BHF Intermediate Clinical Research Fellow & Honorary Consultant Nephrologist, Centre for Cardiovascular Science, Queen’s Medical Research Institute, Edinburgh
  • Dr Graham Lipkin, Consultant Nephrologist, Queen Elizabeth Hospital Birmingham
  • Prof Patrick Mark, Professor of Nephrology, Institute of Cardiovascular and Medical Sciences, University of Glasgow
  • Prof Una Martin, Professor of Clinical Pharmacology and Hypertension Lead, Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham
  • Prof Alexandre Persu, Collaborator from European FMD Registry, Cliniques Universitaires Saint-Luc, Brussels
  • Dr Pauline Swift, Consultant Nephrologist, Renal Services, Associate Medical Director for R&D and Innovation, Epsom and St. Helier University Hospitals NHS Trust

None reported