Partners

Participant 10

The Children’s Memorial Health Institute Warsaw (IPCZD)

Partner 10:
Clinic of Metabolic Diseases, Endocrinolgy and Diabetology,  The Children’s memorial Health Institute, 04 730 Warsaw, Al. Dzieci Polskich 20, Poland

Key skills:
Clinical experience in clinical trials for Enzyme Replacement Therapy for patients with Lysosomal Storage Disorders.

Laboratory background and technical information:
The Department of Metabolic Diseases is a part of Clinic of Metabolic Diseases, Endocrinology and Diabetology in The Children’s Memorial Health Institute (CMHI) which is the largest and most modern specialist paediatric hospital in Poland. The Department of Metabolic Diseases is the only reference centre for metabolic diseases  in Poland and is also engaged in teaching programs for specialist physicians of paediatrics and  biochemistry. It provides all necessary facilities for conducting clinical trials. Since 1977, many patients with lysosomal storage diseases have been diagnosed and are under medical care at CMHI. Therefore CMHI has a long-standing interest in understanding the pathology of genetic defects that result in lysosomal storage disorders and to improve the medical care and treatment methods.

Capacity to contribute to the project:
In the past, partner 10 conducted seven Clinical trials with ERT in patients with LSD (Gaucher’s, Fabry’s, MPS II diseases) All the necessary equipment and facilities to perform ERT in patients with LSDs are available. Additionally, partner 10 has a long-standing experience as coordinator of clinical trials with new molecules namely genisteine in patients with MPS III (Sanfilippo disease). 

Personnel involved:

• Anna Tylki-Szymańska (MD, PhD, F), Professor, Prof of Paediatrics and Metabolic Medicine Principal Investigator in seven LSD clinical trials with ERT possess a long-standing expertise on clinical practice with metabolic diseases and the coordination and management of clinical trials
• Monika Pohorecka (PhD, F), Post Doc, Possess a long-standing expertise on clinical practice with metabolic diseases and participation in clinical trials.
• Agnieszka Jurecka (PhD, F), Scientist, is involved in the ERT experiments, coordination and management of the therapeutic programmes and possesses a long lasting experience in ERT studies, mouse analyses and management within an EU network.
• Maria Szkolmowska (F), Maria Skup (F), Wioletta Żuraw (F), Ewa Kamol (F) study nurses and  technical assistance

Key Publications:

1. Tylki-Szymańska A, Różdżyńska A, Jurecka A, Marucha J, Czartoryska B (2009) Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human alpha-l-iduronidase (laronidase). Mol Genet Metab. 2009 Aug 27. [Epub ahead of print]
2. Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Wegrzyn A, Wegrzyn G (2009).
   Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. Acta Paediatr. 2009 Apr;98(4):743-9. Epub 2008 Nov 30.
3. Schaefer RM, Tylki-Szymańska A, Hilz (2009) Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. MJ.Drugs. 2009;69(16):2179-205.
4. Ługowska A,Włodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A (2008). Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. Clin Genet. 2009 Jan;75(1):57-64. Epub 2008 Nov 17

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