Status In progress
Process HST
ID number 800

Provisional Schedule

Expected publication 26 September 2018

Project Team

Project lead Joanne Ekeledo

Email enquiries


Companies sponsors Chiesi Ltd
Others Addenbrooke's Lysosomal Disorders Unit
  Birmingham Children’s Hospital NHS Foundation Trust Lysosomal Storage Disorders Unit
  Department of Endocrinology, University Hospital Birmingham Foundation Trust
  Department of Health
  Great Ormond Street Hospital Metabolic Unit
  National Hospital for Neurology and Neurosurgery Charles Dent Metabolic Unit
  NHS England
  Royal Free Lysosomal Storage Disorders Unit
  Salford Royal NHS Foundation Trust Mark Holland Metabolic Unit
  Willink Unit, Genetic Medicine, Central Manchester Foundation Trust
Patient carer groups Climb (Children Living with Inherited Metabolic Diseases)
  Contact a Family
  Genetic Alliance UK
  Genetic Disorders UK
  MPS Society
  Muslim Council of Britain
  South Asian Health Foundation
  Specialised Healthcare Alliance
Professional groups Association of British Neurologists
  Association of Genetic Nurses and Counsellors
  British Inherited Metabolic Disease Group
  British Paediatric Neurology Association
  British Society for Gene and Cell therapy
  British Society for Genetic Medicine
  British Society for Human Genetics
  British Society of Paediatric Gastroenterology, Hepatology and Nutrition
  Institute of Neurology
  Metabolic Pharmacists Group
  National Metabolic Biochemistry Network
  Primary Care Neurology Society
  Royal College of Nursing
  Royal College of Paediatrics and Child Health
  Royal College of Pathologists
  Royal College of Physicians
  Royal Pharmaceutical Society
  Royal Society of Medicine
  UK Clinical Pharmacy
  UK Genetic Testing Network


Associated public health groups Public Health England
  Public Health Wales
Comparator companies None
General commentators All Wales Therapeutics and Toxicology Centre
  Allied Health Professionals Federation
  Board of Community Health Councils in Wales
  British National Formulary
  Care Quality Commission
  Department of Health, Social Services and Public Safety for Northern Ireland
  Healthcare Improvement Scotland
  Medicines and Healthcare products Regulatory Agency
  National Association of Primary Care
  National Pharmacy Association
  NHS Alliance
  NHS Commercial Medicines Unit
  NHS Confederation
  NHS National Services Scotland
  Scottish Medicines Consortium
  Welsh Government
  Welsh Health Specialised Services Committee
Relevant research groups Cochrane Cystic Fibrosis and Genetic Disorders Group
  MRC Clinical Trials Unit
  National Institute for Health Research
  Society for the Study of Inborn Errors of Metabolism


Key events during the development of the guidance:

Date Update
08 November 2017 Invitation to participate
20 March 2017 Referral
20 March 2017 In progress, Topic referred.
22 September 2016 - 21 October 2016 Consultation on suggested remit, draft scope and provisional matrix of consultees and commentators

For further information on how we develop guidance, please see our page about NICE highly specialised technologies guidance