Wednesday June 18, 2014 Dr. Carine van Capelle received her PhD on 'Children with Pompe disease: clinical characteristics, peculiar features and effects of enzyme replacement therapy'. 

Pompe disease presents as a continuous spectrum of clinical phenotypes in which progressive muscle weakness is the main manifestation. Patients with the classic-infantile form of this disease have virtually no residual enzyme activity and are at the severe end of the spectrum, while patients with a certain level of residual enzyme activity present milder phenotypes at the other end of the spectrum.

The first results of enzyme replacement therapy (ERT) with recombinant human alfa glucosidase were promissing since most patients with the classic-infantile form of Pompe disease survived far beyond the first year of life. But, there is still little known about the long-term treatment effects in this group of patients. Much less is known about the natural course of disease in children with less progressive phenotypes and how they respond to ERT. This thesis describes the clinical spectrum of children with Pompe disease, compares them with adult patients, and evaluates the effects of ERT in these childhood Pompe patients. Furthermore it describes the long-term outcome of ERT in patients with classic-infantile Pompe disease, for a maximum period of 14 years, and compares the functioning of these treated infants with that of children with less progressive forms of Pompe disease.

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.