Partners

Participant 3

Copenhagen University Hospital

Partner 3:
Department of Clinical Genetics, Juliane Marie Centre, Copenhagen University Hospital, 9 Blegdamsvej, DK-2100 Copenhagen, Denmark

Key skills:
Clinical, genetic and biochemical aspects of diagnosis, treatment and monitoring of children and adults with inherited metabolic defects, Enzyme Replacement Therapy.

Department of Clinical Genetics:
The Center for Metabolic Disorders is part of the Clinical Genetics department of the Copenhagen University Hospital, the most extensively specialised hospital in Denmark with representation of all medical specialities. The Clinical Genetics department covers the whole of Denmark concerning diagnosis, biochemical monitoring and clinical evaluation and treatment of patients with metabolic disorders. The department has a long-standing interest in metabolic disorders including lysosomal storage disorders, for most of which the department conducts metabolic analyses and has clinical responsibility for affected patients. Treatment modalities used in the department include HSCT, Substrate Reduction Therapy and ERT. ERT is presently given to patients with Gaucher, Fabry, Hurler, Hunter and Pompe disease in a routine setting and to patients with MLD in a clinical trial setting.

Capacity to contribute to the project:
Partner 3 has a longstanding interest and experience in metabolic disorders and medicine and is involved in almost all available ERT 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 Metachromatic Leucodystrophy and Pompe disease. All the necessary equipment and facilities to perform ERT in alpha-Mannosidosis patients are available after minor adjustments. The clinic has access to other measures needed in the study e.g lung function, echocardiography, electrocardiogramm, measurement of range of joint motion etc.

Personnel involved in current study:

Allan Meldgaard Lund (MD, DMSc, M), Consultant Paediatrician: As the head of the Center for Metabolic Disorders, he has the overall responsibility for the diagnosis and care of patients with metabolic disorders. He has a long-standing experience in most treatment aspects for these disorders, including ERT in LSD and will be responsible for implementation of clinical phase I and II within ALPHA-MAN.

Other Members of the staff include:

Paediatrician 1
Paediatrician 2
Nurse 1, full-time
Nurse 2 , full-time
Biotechnician
Assisting Department

Key publications:

Dali Ci, Lund AM. Intravenous enzyme replacement therapy for Metachromatic Leucodystrophy (MLD). ACMG 2009;145 (abstr).
Krarup C, Dali Ci, Schmalbruch H, Lund AM, Friis C, Fogh JM. Clinical, electrophysiological and pathological studies in late infantile metachromatic leucodystrophy. Am Acad Neurol 2008; (abstr).
Lund AM. Progression of Gaucher type III during enzyme replacement therapy. J.Inherit.Metab.Dis. 2008 (in press).
Danielsen ER, Lund AM, Thomsen C: MRS in childhood alpha-Mannosidosis. Eu.Soc.Magne.Res.Med.Biol. 2005;129 (abstr).