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EWGGD GD1 Guidelines

5 August 2020

IGA in collaboration with EWGGD to form a working group to develop International clinical management guidelines for type I Gaucher disease

On Monday 14th September at 3pm (GMT) the EWGGD/IGA will host a kick-off event to develop International type I Gaucher disease clinical management guidelines. The session will be co-hosted by Prof Derralynn Hughes and Prof Magy Abdel Wahab.

The goal of this first meeting will be to discuss the core aspects of what should be in the guidelines and to then break-out in sub-groups for adult and paediatric.

Prof Chris Hendriksz will join the call and present on the challenges with diagnosis and clinical management in Africa to ensure that the guidelines will be a tool for all physicians treating Gaucher patients to be able to use.

Register your interest in joining the 'Management of type 1 Gaucher disease' working group from the EWGGD website and you will then be sent a separate link to register for the joint IGA/EWGGD webinar.


Prof.  Derralynn Hughes is Clinical Director Haematology, Oncology and Palliative Care, Lead Cancer Physician at the Royal Free London NHS Foundation Trust and Professor of Experimental Haematology at the University College London, UK. She has also been recently appointed as Clinical Director of the NCL London Cancer Alliance. She has clinical responsibilities in the area of Haematology and Lysosomal Storage Disorders and is chair of the anaemia clinical practice group. She directs the research programme in the LSD unit research laboratory where interests include understanding the pathophysiology of phenotypic heterogeneity in Fabry Disease and bone related pathology in Gaucher disease and malignancy. Prof Hughes is Principle Investigator of a number of clinical trials examining the efficacy of Enzyme, Chaperone and gene therapies and other new agents in the treatment of Gaucher, Fabry, Pompe and MPS disorders. A particular interest relates to the clinical and biological effects of bone disease and malignancy in Gaucher disease. She is an author of over 150 papers in the area of macrophage biology and lysosomal Storage Disorders.


Magy Abdelwahab is a Professor of Paediatrics and Paediatric haematology at Cairo University Pediatric Hospital, the biggest tertiary Paediatric Hospital in Egypt and one of the biggest in the Middle East. She qualified in Medicine,did her Msc and PhD in Pediatrics at  Cairo University .She trained in Egypt and the UK  in Paediatrics , Paediatric haematology and Neurology and worked in Royal Hospital for Sick Children in Glasgow and Edinburgh, Scotland and sat for membership exam. She is interested in the field of Paediatric Haemostasis and thrombosis and received specialized training at the Manchester Hemophilia Comprehensive Care Centre, UK with publications in the field.Her other clinical interest is Gaucher disease/Gaucher disease type 3(GD3) .She is the senior staff member of the Gaucher disease clinic managing a big diverse unique cohort of more than 130 patients(70% GD3) and has been an active participating member of the Egyptian American Gaucher disease committee since 2006. She has wide expertize in the field, made new observations regarding neurological and non-neurological manifestations of type 3 Gaucher disease and is involved in a lot of research work in the field .She is an invited guest speaker in many national and international meetings and conferences, member of advisory boards, working groups, and scientific steering committee for Gaucher disease. She participated in writing and reviewing Gaucher disease booklets mainly addressing type 3 GD. Her last publication is entitled “The definition of neuronopathic Gaucher disease “ and last accepted publication is “A scoring system to facilitate diagnosis of Gaucher disease 


Chris Hendriksz, MD, is now CEO of his own company FYMCA Medical Ltd and extra ordinary Professor of Paediatrics and Child Health at the Steve Biko Academic Unit, University of Pretoria, South Africa since full time retirement at the end of March 2018.

His passion educating clinicians in low income countries and working with multiple agencies to improve services for patients affected by rare inherited metabolic disorders. He and his team has educatated clinicians on rare disease management in more than 30 countries and the list is growing yearly.This creates “Hope for those with least chance of being recognized” in his own words.Advocating for greater access to therapies, developing guidelines and supporting charitable access programs. Using his vast experience of working in many different countries he is actively involved in developing new tools to measure patient reported outcomes, developing data capturing and activity tracking integration in patient outcome measures which is used to monitor treatment response. He provides expert knowledge to patient organisations, foundations, regulators and payors in his field of expertise.

His publication list contains more than 200 peer reviewed publications with the majority on Lysosomal Storage Disorders numerous ones related to clinical trials , Quality of Life and review papers as well as several book chapters in the field of inborn errors of metabolism.

Outside of work his family, technology,cycling, fishing and playing golf badly occupies most of his time.