Welcome to the International Pompe Association (IPA)
Tuesday June 24, 2014 Dr. Linda van den Berg received her PhD on 'The Musculoskeletal System in Pompe disease - Pathology consequences and treatment options' at the Erasmus University Rotterdam.
All patients with Pompe disease suffer from muscle weakness, which can ultimately lead to wheelchair use and artificial ventilation. Since its registration in 2006, enzyme replacement therapy (ERT) is the only treatment available for patients with Pompe disease. Although the availability of ERT has changed patient's perspectives in terms of improved survival, increased muscle strength and stabilisation of pulmonary function, not all patients respond equally well, and not all muscle damage and functional impairment is resolved.
The studies described in this thesis explore the muscle pathology in Pompe disease across the clinical spectrum, the interplay between skeletal muscle dysfunction and bone structure and the effects of ERT on it, as well as the use of exercise training to further improve patients' functioning.
On June 10, 2014 Dr. Juna de Vries received her PhD on 'Natural course, effects of enzyme therapy and prognostic factors in adults with Pompe disease' at the Erasmus University Rotterdam.
Enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme) is the first disease specific treatment fo an inherited neuromuscular disorder, which makes the situation for Pompe disease rather unique. Registration of ERT in 2006 was predominantly based on the positive results obtained from clinical trials performed in infants with classical infantile Pompe disease. Information on the effects and safety of the use of alglucosidase alfa in children and adults with Pompe disease was limited at start of the research of this thesis. For that reason, the Dutch nationwide prospective observational study on the natural course and the effects of ERT in children with Pompe disease started in 2004 at Erasmus MC. In addition, patient-reported information on handicap, quality of life and fatigue was gathered via the international IPA/Erasmus MC Pompe Survey where Pompe patients all over the world participated in.
Polish patient organisations plant the first tree in Pompe Garden!
During International Pompe Day the Polish Association of Pompe Patients in partnership with Genzyme launched the social campaign 'Pompe Garden'. This aims to increase knowledge about Pompe disease. Currently about 30 patients are diagnosed in Poland. The ceremony of tree planting took place at the new Peadiatric Hospital of the Medical University of Warsaw.
The Pompe Garden will be a place where rare plants will be planted and to allow people to 'meet' and 'see' the rare plants as symbol of the rare Pompe disease. It will be a place where patients will meet and celebrate International Pompe Day every year. The action was supported by the Medical University of Warsaw, the National Forum for Rare Diseases and the Parliamentary Assembly for Rare Diseases.
The celebration of the first International Pompe Day began with an educational meeting at the Medical University of Warsaw, where Pompe patients had a chance to share their stories with gathered guests and media. The symbolic tree was planted by Maciej Ptasinki (President of the Association of the Association of Patients with Pompe disease), Miroslaw Zielinski (President of the National Forum for Rare Diseases), Barbara Czaplicka (Polish politician) and Marek Kulus (Vice Rector of the Medical University of Warsaw). Before the tree planting specially trained volunteers educated the citizens of Warsaw about Pompe disease.
The Polish patient groups belief that this initiative will help to break the silence around rare diseases and will positively influence the attitude and awareness of society towards these diseases. Thanks to activities like this people can directly experience the contact with rare disease patients and integrate with them. Everything to experience that Together We Are Strong!