PhD candidate neuromuscular diseases ‘Advance Care Planning and palliative care in FSHD’

We are looking for an enthusiastic PhD candidate for a challenging position within the Center of Expertise for Muscular Diseases. Are you a team player who wants to make a difference for people with FSHD and their families, together with our international partners? We are looking forward to meet you!

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive genetic muscle disorder, causing progressive weakness in the face, shoulders, and upper arms. As individuals with FSHD age, muscle weakness extends to the trunk and legs, often leading to increasing mobility challenges. Ageing compounds the effects of FSHD, as natural muscle loss and reduced recovery capacity accelerate functional decline.

Advance Care Planning and palliative care enable patients to discuss their healthcare wishes with loved ones/healthcare professionals and to guide their care by recording their decisions. With FSHD, life expectancy is near normal, but there are significant care issues towards the end of life that are not or insufficiently addressed. There is only limited guidance available in the area of Advance Care Planning and palliative care for FSHD.

The aim of this project is to address the gap in FSHD care between routine care, advance care planning, and palliative care through multidisciplinary collaboration. Consensus recommendations will be reached and guidelines will be provided for clinicl care in later stages of life. In addition, information will be collected on mortality rates in FSHD.
This research is funded by FSHD Global research Foundation and the Dutch FSHD Stichting.

Your main tasks will be:

• To set up and conduct an international questionnaire survey.
• To set up and conduct qualitative research into patient experiences.
• To set up and conduct mortality research.
• To set up and conduct a narrative review.

In addition to writing scientific articles, you will also present the results to a diverse audience. Results will be translated into patient-friendly resources that can support families in making informed decisions and engaging in conversations about the later stages of life. This project focuses on multidisciplinary collaboration with international researchers.

In 2027, an international workshop will be organized, which will result in recommendations for Advance Care Planning and palliative care for FSHD. In preparation for this, a workshop will be held in Australia in November 2026.