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Participant 5

Central Manchester & Manchester Children´s University Hospitals NHS Trust

Partner 5: Willink Biochemical Genetics Unit ,Manchester,UK (MAN), Royal Manchester Children´s Hospital, Manchester M27 4HA, United Kingdom (Team leader/Responsible Scientist: Dr. E. Wraith): Clinical judgement, Medical insight, Contact for Clinicians, patients and patient organisations.

Background: Dr Wraith is the clinician responsible for patients with lysososmal storage disorders attending the Willink Biochemical Genetics Unit. Our clinical workload exceeds 500 patients and we have experience in haematopoietic stem cell transplantation, enzyme replacement therapy and substrate reduction therapy as treatments for various LSDs. Dr. Wraith is the principal investigator in the UK for ERT clinical trials in MPS I, II and VI as well as Paediatric Fabry disease and Pompe disease. The majority of the UK mannosidois patients attend this unit for follow up.

Capacity to contribute to the project: The Willink Biochemical Genetics Unit has participated in natural history studies for Mucopolysaccharidosis type I, II and VI. The clinic has all qualifications to perform 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.

Members involved: A clinical Nurse Specialist will be recruited to coordinate the project (12 pm) Other contributing members of the laboratory: Dr. Wraith (8pm) and Dr. Suresh Vijay – responsible for physical examinations (8 pm). Other team members will include cadiology (ECHO), radiology (imaging), physiotherapy (joint range of motion) and the department of cardiorespiratory medicine (lung function studies) (each 2 pm)

TOTAL EXPECTED EFFORT: 36 pm

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