Rare Diseases Special Interest Group
Rare Diseases Special Interest Group
Wilson’s Disease is now part of the Rare Diseases Special Interest Group (SIG). The SIG is linked to the Metabolic CRN topic area and the SIG Lead is Dr Bill Griffiths, Consultant Hepatologist, Addenbrookes Hospital, Cambridge.
Wilson's Disease was the first SIG to be established by BASL. The Wilson’s Disease Group comprises a variety of clinical and laboratory specialists from around the UK, Public Health England and patient representation from the Wilson’s Disease Support Group. Its aims are to foster closer collaboration for clinical and scientific research, provide a forum to discuss and disseminate best practice, and act as a stimulus towards Centres of Excellence for Wilson’s disease. Reports from meetings are available below along with presentation slides.
Alpha-1 Antitrypsin Deficiency (Alpha-1) and Haemochromatosis are 2 new sub-SIGs of the Rare Diseases SIG, read more below.
If anyone wishes to join the Rare Diseases SIG please contact the BASL secretariat on Kim@basl.org.uk and advise which sub-SIG you are interested in joining:
- Alpha-1 Antitrypsin Deficiency
- Haemochromatosis
- Wilson's Disease
BASL Rare Disease SIG and Polycystic liver disease
The UK polycystic liver disease registry, which forms part of the overall international PLD registry, was launched earlier this year. This is the first major study into PLD in the UK with the aim of mapping the natural course of the disease and will hopefully lead to new insights and treatment options for patients with PLD. The study is led by Portsmouth Hospitals University NHS Trust who are looking to expand the study to as many UK sites as possible. Alongside the registry we hope to encourage further study and collaboration for patients with ductal plate malformation disorders within the BASL Rare Diseases SIG.
More information on the UK PLD registry can be found at: https://clinicaltrials.gov/ct2/show/NCT04645251
For further information on the study or to register your interest in joining please contact the study team.
Study co-ordinator: Dr Benjamin Giles, Benjamin.giles@porthosp.nhs.uk
Chief investigator: Dr Richard Aspinall, Richard.aspinall@porthosp.nhs.uk
Alpha-1 Antitrypsin Deficiency (A1ATD) sub-SIG
An Alpha-1 Antitrypsin Deficiency (A1ATD) sub-SIG is being set up under the Rare Diseases SIG. The group will be led by Dr Tamir Rashid read more below.
Several recent publications provide the evidence base for what Hepatologists have spoken about for many years:
(1) Alpha1 Antitrypsin deficiency related liver disease is massively underdiagnosed
(2) liver pathology occurs in patients with heterozygous as well as homozygous genotypes
(3) prognostic biomarkers to discriminate between patients who end up needing a liver transplant and those whose disease remains quiescent are lacking.
In parallel to these population-based studies, advances in the basic molecular understanding of Alpha1 have resulted in over 20 companies developing novel therapeutic technologies, several of which are about to enter / have already entered late-stage clinical trials.
These combined developments represent exciting times for Alpha1 medicine and patients but also necessitate Hepatologists to be armed with a new set of tools in preparation for what is likely to become a significant component to our clinical workload over the coming years.
To address this challenge, we have formed a sub-special interest group which will sit under the Rare Disease SIG, the sub-SIG’s objectives, amongst other things, will be to (1) develop a national registry of patients (2) establish guidelines for the diagnosis and management of patients and (3) facilitate multi-centre studies for identification of disease modifiers and evaluating new medicines.
It is intended this initiative will be carried out in collaboration with our Respiratory colleagues, Public Health England, existing related initiatives already running in the US and across Europe and closely informed by the needs of patients.
Please forward any expressions of interest to join the sub-SIG to the BASL Secretariat kim@basl.org.uk or sign into the members area of the website and select Alpha-1.
References (PMID numbers): 32675199; 33632708; 30068662; 32376409; 29573137; 31121167; 32697896
Haemochromatosis sub-SIG
A Haemochromatosis sub-SIG is being set up under the Rare Diseases SIG. The group will be led by Dr Jeremy Shearman (Consultant Gastroenterologist/Hepatologist at Warwick). The main specialties involved will be gastro/hep, haematology and rheumatology as well as involvement from the patient group (haemochromatosis UK).
Haemochromatosis is not in itself a rare disease but we know that only a small fraction of those at genetic risk are currently receiving care and monitoring in UK hospitals. Care of these patients may be shared across a number of clinical specialties – hepatologists, gastroenterologists and haematologists. In recognition of the challenges presented by this condition BASL is supporting the development of a sub-Special Interest Group. This group will sit under the Rare Diseases Special Interest Group and will encompass BASL, BSG, BSH in addition to interested individuals from other relevant professional bodies and patient organisations.
The inaugural meeting of the haemochromatosis sub-SIG is expected to be a virtual (Teams/Zoom) meeting in June or July of this year.
Please forward any expressions of interest to the BASL secretariat at kim@basl.org.uk .
Resources
Wilson Disease NHSE Specialist Centre expertise - 16.11.2020
Download Wilson Disease NHSE Specialist Centre expertise Nov 2020.pdf
Wilson's Disease Standards Document - 31.03.20
Wilson's Disease Support Group UK - the WDSG-UK provides patient representation on the SIG. It is an all volunteer organisation, which strives to promote the well-being of patients with Wilson's Disease, and their families and friends. Visit the group's website at http://www.wilsonsdisease.org.uk .
Download Trientine Formulations in the UK (2020).pdf
Presentation on New trientine formulations - Rupert Purchase - University of Sussex, Brighton:
Download WD-SIG trientine slides v3.pdf
Presentation on NHSE genomic medicine service - Miranda Durkie, Lead Clinical Scientist in Gastrohepatology, Yorkshire & North East GLH – Sheffield:
Download NHSE genomic medicine service.pdf
Shared care guideline for trientine
Download Shared care guideline for trientine Cambridge-Eastern.pdf
Wilson's Disease
Meeting Reports
Meeting 1 - 14 December 2017
Meeting report - Download BASL Wilson SIG Meeting 14 Dec 2017 Report1.pdf
Meeting 2 - 14 June 2018
Meeting report - Download BASL Wilson SIG meeting 14 June report.pdf
Presentation on Estimating national Wilson’s disease prevalence rates: Exploring the utility of clinical and routinely collected data, Jeanette Aston, PHE - Download MB JA BASL Wilsons SIG meeting 20180614.pdf
Presentation on DNA/RNA therapies for Wilson’s Disease, Julien Baruteau, UCL - Download Baruteau_Gene therapy for Wilson.2.pdf
Presentation on biochemical monitoring, Paul Cook, University Hospital Southampton - Download Biochemical monitoring.pdf
Presentation on measurement techniques, Chris Harrington, SAS Trace Element Laboratory, Guildford - Download BASL-June 2018-web.pdf
Presentation on Wilson’s Disease in children, Professor Deirdre Kelly, Dr Indra van Mourik and Carla Lloyd, Birmingham Women’s & Children’s Hospital - Download Wilsons Disease in children.pdf
Presentation on paediatric specific issues for Wilson's Disease screening and monitoring, Dr Indra van Mourik, Birmingham Women’s & Children’s Hospital - Download Paediatric specific issues for Wilsons Disease screening and monitoring.pdf
Meeting 3 - 14 February 2019
Meeting report - Download Wilsons Disease SIG meeting 14.2.19 minutes.pdf.
Meeting 4 - 29 November 2019
Meeting report - Download Wilson SIG meeting 29.11.19 minutes_FINAL.pdf.
Meeting 5 - 20 November 2020
Meeting Report - Download WD SIG 20 11 20 meeting minutes.pdf
Annual reports
Download Annual report_2017-18_Wilsons Disease SIG.pdf
Download Annual report_2018-19_Wilsons Disease SIG.pdf
Meetings
The next meeting of the Wilson's Disease SIG is taking place on 19th November via Zoom from 09:00 - 13:00pm.
A programme will follow.
Wilson's Disease SIG members wishing to attend will receive the link to join the meeting nearer to the date.
We hope to see you there.
