Partners

Participant 5

Manchester Children’s University Hospital

Partner 5:
Department of Genetic Medicine, St Mary's Hospital, Manchester M13 9WL (previously Willink Biochemical Genetics Unit Royal Manchester Children's Hospital, Manchester M27 4HA). The department relocated to the new Women and Children's Hospital in June 2009 and merged with the Department of Clinical Genetics to form the Department of Genetic Medicine.

Key skills:
Treatment and monitoring of children and adults with inherited metabolic defects with focus on Lysosomal Storage Disorders, Enzyme Replacement Therapy, Natural History Studies.

Clinical Background:
Dr. Jones is one of the clinicians responsible for patients with lysosomal storage disorders attending the Department of Genetic Medicine. Dr. Jones along with his colleague Prof. Ed Wraith has been/is the principal investigator in the UK for ERT clinical trials in MPS I, II, IV and VI as well as Paediatric Fabry disease and Pompe disease. The majority of the UK alpha-Mannosidosis patients attend this unit for follow up.

Capacity to contribute to the project:
Colleagues in the Department of Genetic Medicine and previously in TheWillink Biochemical Genetics Unit have participated in natural history studies for Mucopolysaccharidosis type I, II, VI and for alpha-Mannosidosis patients implemented during the HUE-MAN network. The clinical workload exceeds 500 patients and is experienced in Haematopoietic Stem Cell Transplantation, Enzyme Replacement Therapy and Substrate Reduction Therapy as treatments for various LSDs. The clinic has all qualifications to perform Enzyme Replacement Therapy and clinical tests as well as having access to other measures needed in such a study e.g. (lung function, echocardiography, electrocardiogram, measurement of range of joint motion etc.). In addition to physicians who are trained in clinical trials, experienced study nurses are part of the staff.

Personnel involved:

Dr. Simon Jones (MD,M): Responsible for physical examinations
Dr. Elisabeth Jameson (MD,F): Responsible for physical examinations
A clinical nurse specialist will be recruited to coordinate the project
Clinical Nurse for infusions
Biotechnician
Other team members will include cardiology (ECHO), radiology (imaging), physiotherapy (joint range of motion) and the department of cardiorespiratory medicine (lung function studies)

Key Publications:

Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE. Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C. J Child Neurol. 2009 Oct 12. [Epub ahead of print]
Wynn RF, Wraith JE, Mercer J, O'Meara A, Tylee K, Thornley M, Church HJ, Bigger BW. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J Pediatr. 2009 Apr;154(4):609-11.PMID: 19324223
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar;11(3):210-9.
Wynn RF, Mercer J, Page J, Carr TF, Jones S, Wraith JE. Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccaridosis in 18 patients. J Pediatr. 2009 Jan;154(1):135-9