Rare Disease Group
The main objectives of the Fabry Disease Rare Disease Group are to:
- Provide reliable information for patients and relatives regarding the condition
- Provide referral information for clinicians, including details about where to send samples
- Improve referral pathways between the relevant specialties in each geographical area e.g. cardiology and nephrology
- Design and implement studies to determine the burden of undiagnosed disease and make testing for Fabry more accessible nationwide
- Organise patient information days to promote face-to-face contact between clinicians and patients/families
The RDG will initially focus on the following areas of work:
- Agree the RaDaR dataset for Fabry Disease patients
- Write information for patients/relatives
- Write information for healthcare professionals
- Compile useful links to guidelines and resources
- Compile map of UK specialist clinics with contact details of specialist clinics and existing regional MDTs (Fabry treatment centres)
The Fabry Registry and the Fabry Outcomes Survey are both industry hosted international registries. They are limited by incomplete data sets and difficulties in access.
The International Study Group for Fabry Nephropathy is a network of renal pathologists with an interest in this condition which has produced a scoring system for renal biopsies.
The Fabry Disease RDG has no formal links to these groups. The RaDaR registry will contribute to, but not compete with, the existing international registries where appropriate.
The Society for Mucopolysaccharide Diseases (MPS Society) is the only registered UK charity providing professional support to individuals and families affected by MPS and related Lysosomal Storage Diseases throughout the UK. The Fabry Disease RDG are fortunate to have support from Christine Lavery the Chief Executive of the MPS society.
Publications
Fabry disease: rare but there – UK Kidney Week, 2018
Mac Lochlainn DJ, McKechnie DGJ, Mehta AB, Hughes DA. The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. Mol Genet Metab. 2018 Feb;123(2):154-158. doi: 10.1016/j.ymgme.2017.10.001. Epub 2017 Oct 5. PubMed PMID: 29055531.
Ivleva A, Weith E, Mehta A, Hughes DA. The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients. JIMD Rep. 2018 Jan 30. doi: 10.1007/8904_2017_84. [Epub ahead of print] PubMed PMID: 29380258.
Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. J Med Genet. 2018 Feb 7. pii: jmedgenet-2017-104863. doi: 10.1136/jmedgenet-2017-104863. [Epub ahead of print] PubMed PMID: 29437868.
Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M. Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. J Inherit Metab Dis. 2018 Jan;41(1):141-149. doi: 10.1007/s10545-017-0095-6. Epub 2017 Oct 16. PubMed PMID: 29039131; PubMed Central PMCID: PMC5786653.
Reports
| RDG Lead(s) |
|
| Patient representative(s) |
|
| Other members |
|
Dr Shabbir Moochhala, Prof John Sayer and Prof Neil Turner have received honoraria from Genzyme for consultancy work.
Prof John Sayer has received research funding from Genzyme.
Paul Brennan has received lecture fees and travel expenses from Genzyme
Derralynn Hughes has received honoraria for speaking and advisory boards and support for travel from Genzyme, Shire Actelion, Amicus and Protalix in relation to Fabry Disease and support for research from Genzyme and Shire.
