Paediatric Inherited Metabolic Disease

Lysosomal Storage Disease

The Willink Unit is an internationally renowned centre for the diagnosis and treatment of lysosomal storage disorders (LSD) and both the laboratory and clinical services are commissioned nationally. Our international reputation attracts patients from overseas as well as all parts of the United Kingdom and the laboratory receives samples for testing for lysosomal storage disorders from all over the world.

Out Patient Service

Clinics for the full range of lysosomal storage disorders are held daily within the Willink Unit. Patients are seen by one of four Consultant Paediatricians: Dr Alex Broomfield, Dr Beth Jameson, Dr Simon Jones and Dr Bernd Schwahn.

An MPS I post-haemopoietic stem cell transplant clinic is held once every three months. This is a multi-disciplinary clinic which is attended by Dr Alex Broomfield, Consultant Paediatrician, Dr Simon Jones, Consultant Paediatrician, Inherited Metabolic Disease, Dr Rob Wynn, Consultant Paediatric Haematologist, a consultant paediatric spinal surgeon, consultant orthopaedic surgeon, consultant paediatric endocrinologist as well as the Clinical Nurse Specialist for MPS I, Jean Mercer and Specialist Physiotherapist Pauline Hensman.

The LSD service in Manchester has very close links with other paediatric specialities with the Children’s Hospital such as paediatric cardiology, paediatric respiratory medicine and paediatric ENT.

Specialist care for other LSD groups is coordinated by the Clinical Nurse Specialists within the department.

Gill Moss Lead Nurse Jean Mercer MPS I and Gaucher Disease Jane Roberts MPS II, MPS VI and Fabry Disease Joan Fletcher Pompe Disease

Enzyme Replacement Therapy (ERT)

The Willink Unit has extensive experience in the delivery and management of enzyme replacement therapy for lysosomal storage disorders. Newly diagnosed patients are infused and monitored in the Royal Manchester Children’s Hospital before being either transitioned to their local hospital or homecare. Licensed indications for ERT include Fabry Disease, Gaucher Disease, Pompe Disease, MPS I, MPS II, MPSVI. ERT patients are treated in the Elective Treatment Centre at the Royal Manchester Children’s Hospital by a team of specialist ERT nurses.

Clinical Trials

The Willink Unit is heavily involved with clinical trials aimed at developing new treatments for patients with lysosomal storage disorders. Clinical trials are conducted in the Wellcome Trust Children’s Clinical Research Facility which is a specialist children’s clinical research facility based in the Royal Manchester Children’s Hospital. Dr Simon Jones is lead investigator on many LSD related clinical trials and is supported by his consultant colleagues Dr Alex Broomfield and Dr Elisabeth Jameson and by Arunaba Ghosh, Clinical Research Fellow.

In Patient Service.

In patient facilities are provided for the LSD patients within the Royal Manchester Children’s Hospital either in the Elective Treatment Centre or for longer admissions in Ward 85. The Elective Treatment Centre has facilities for both short stay and day case patients and is where the LSD patients received their enzyme replacement therapy.

Transition

Adult patients with inherited metabolic disorders are seen at Salford Royal Hospitals NHS Foundation Trust by Dr Chris Hendriksz, Dr Reema Sharma and Dr Anna Jovanovic. In order to facilitate the transition from paediatric to adult care, special clinics are held monthly so that teenage patients can meet Dr Hendriksz, lead clinician for transitional care. Patients attend several clinics in the lead up to the transfer to Salford Royal in order to ensure smooth transition to adult care.

Referrals

Children with a known or suspected inherited metabolic disorder should be referred directly to the Willink Unit, Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester M13 9WL. Referrals may be faxed to 0161 701 2303. For urgent referrals please telephone the metabolic consultant on call via the hospital switchboard on 0161 276 1234.

Referrals are welcome from both within the United Kingdom as well as from overseas. For further information please telephone 0161 701 2137/2138

Weblinks

MPS Society

Gaucher Association

Niemann Pick Disease Group

Genetic Alliance UK

Glycogen Storage Disease Association

CLIMB

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