Partners

Participant 7

Hospices Civils de Lyon

Partner 7:
Reference Centre of inherited metabolic disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, France

Key skills:
Clinical, treatment and monitoring of children and adults with inherited metabolic defects. Multidsciplinary assessment, ERT

Laboratory (Clinical) Background:
The department is specialized into the inherited metabolic disorders. Head of the dept. is Prof. Dr. Nathalie Guffon who is responsible for Metabolic Diseases in Femme Mère Enfant Hospital in Lyon. She is implicated into Advisory Board in MPSI, MPSII, MPSIII, MPSVI, MPSIV and has been a Principal Investigator in international clinical studies of Enzyme Replacement Therapy in patients with MPS I, MPS II, MPS III, MPS IV, Gaucher, and Fabry disease.

Capacity to contribute to the project:
Partner 7 has a long-standing interest in metabolic medicine and is involved in almost all available enzyme replacement therapies currently available for patients with lysosomal storage disorders. The department has taken part in previous clinical trials and concerning ERT for lysosomal storage disorders this includes MPSI, II, VI, Fabry, Gaucher and Pompe. All the necessary equipment and facilities to perform ERT in lysosomal storage disorders patients are available. Our clinical department is dedicated in the metabolic disorders.

Personnel involved in current study:

Natahalie Guffon (Professor, F), head of the goup
Alain Fouilhoux, MD, Paediatrician (MD, M), has a long-standing expertise on the lysosomal storage disorders and their treatment and has implemented clinical trials as a sub investigator for Fabry, MPSVI, MPSIV, MPSIII, MPSII. He will in charge of training our team in case of new procedure and local site in collaboration with nurse coordinators
Nathalie Reynes, (CRA, F), has followed international clinical trials in MPSVI (phase II, III), MPSI (phase III), MPSII (phase IIII), MPSIV (survey study) and will be responsible for organization of clinical studies
Catherine Caire (coordinator nurse, F) and
Marianne Chateau (coordinator paediatric nurse, F) have both participated in the international clinical trials with MPSI, MPSII, MPSIV and possess long-standing experience in ERT
Christine Clerc (secretary, F) and
Nicole Chatagnat (secretary and clinical research assistant, F) will be involved in organizational and management activities
Françoise Aubert (Physiotherapist, F) has participated in clinical trial with Pompe disease and she will perform all motor assessments for ALPHA-MAN
Géraldine Carrier (Psychologist, F) has alreadyparticipated in clinical trials in MPS patients and has in charge to perform neurological tests. She follows patients who come for the weekly ERT in our department.

Key Publications:

Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Multidisciplinary Management of Hunter Syndrome.Pediatrics. 2009 Nov 9.
Galanaud D, Tourbah A, Lehéricy S, Leveque N, Heron B, Billette de Villemeur T, Guffon N, Feillet F, Baumann N, Vanier MT, Sedel F. 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. Mol Genet Metab. 2009 Feb; 96(2):55-8.
Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; MPS VI Study Group. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase; Mol Genet Metab.2008Aug;94(4):469-75.
Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. J Pediatr. 2008 Apr;152(4):563-70, 570.e1