This research project focusses on the analysis of longitudinal data on patients with Pompe disease. Patients with this rare multi-systemic disorder develop progressive muscle weakness. This study will try to unravel how clinical measurements and patient-reported outcome change over time, how they interact, and how they respond to treatment. Ultimately, the aim is to determine the minimally clinical important difference for a change in pulmonary function or motor outcome in response to treatment.

For this project, data from two cohorts of Pompe patients will be used. The first is a cohort of Dutch Pompe patients who are being followed prospectively at the Erasmus MC. The second is an international cohort of patients participating in an annual survey. The PhD student will be involved in the data collection and management, and will manage the international patient survey. For this he/she will also liaise with international patient representatives.

This is a shared position between the Center for Lysosomal and Metabolic Diseases (CLMD) and the Biostatistics Unit. The PhD student will mathematically develop and program in software multivariate extensions of standard linear mixed-models of repeated observations to model the correlations between changes in clinical and patient-reported outcomes over time and study the minimally clinical important difference for a number of clinical outcome measures. He/she will collaborate with other researchers, clinicians and patients and is expected to publish in peer reviewed journals and present on international conferences

Graduated with a MSc in Epidemiology, Statistics, Psychometrics, Biometrics, Econometrics or similar. Excellent mathematical and computer programming skills in R (experience in Bayesian software STAN/JAGS is considered a plus). Good writing and expressional skills in the English language. Excellent organizational and communication skills.

Being able to present a certificate of good conduct is a condition for the appointment.

The intended start date for this position is April 2018. You will receive a temporary position for 4 years, starting with a 1 year appointment. The gross monthly salary amounts to a maximum of € 4.216,- (scale 10), depending on your level of education and relevant experience and based on a full-time working week of 36 hours. The terms of employment are in accordance with the Collective Bargaining Agreement for University Medical Centers (CAO UMC).

Erasmus MC

A healthy population and excellence in healthcare through research and education. This is what Erasmus MC stands for. Conducting groundbreaking work, pushing boundaries and leading the way. In research, education, and healthcare. We are practical people with a high level of expertise, working hard to improve and renew the healthcare of today and the public health of tomorrow.

You will be supervised by professor Ans van der Ploeg and Michelle Kruijshaar from the CLMD and Dimitris Rizopoulos from the Biostatistics unit.

The Center for Lysosomal and Metabolic Diseases is a joint initiative of the Departments of Pediatrics, (Child)Neurology, Internal Medicine, Clinical Genetics and Hospital Pharmacy. Research at the center focusses on improving the treatment, care and diagnosis of children and adults with lysosomal storage disorders, and in particular Pompe disease. It includes clinical research as well as the development of innovative therapies (Gene and cell based therapies). The center for Lysosomal and Metabolic Diseases is the national center of expertise for treatment with enzyme replacement therapy of patients with MPS I, MPS II, MPS VI and Pompe disease.

The Department of Biostatistics of Erasmus MC is well known for its innovative statistical research in analyzing complex data structures (longitudinal and survival data, correlated data, missing data, censored data, Bayesian techniques, smoothing techniques, etc.).

Pompe disease is a rare inheritable disorder, caused by a deficiency of the lysosomal enzyme acid α-glucosidase which is needed to breakdown glycogen in the lysosomes. As a result, glycogen accumulates in the lysosomes, especially in muscle cells. This leads to limb-girdle and respiratory muscle weakness. Ultimately, many patients become wheelchair and/or ventilator dependent. Since 2006, treatment with enzyme replacement therapy is available.