Research projects

Collaborative research and development project on ALS

Aim: To develop and test new initiatives for a group of people with ALS and their relatives who decline invitations to join patient groups in Muskelsvindfonden (the Danish patient organization for NMD) or attend workshops arranged by RCFM and thus becoming better at supporting them in living a full life with ALS.

Project plan:

  • To investigate whether the primary target group should be offered alternative activities and/or alternative rehabilitation services including the shape and content of such initiatives and how Muskelvindfonden and RCFM can use each other in the planning of them.
  • Development and testing of new initiatives for the primary target group
  • Assessment of the new initiatives
  • Dissemmination of results nationally and internationally

Partners: The project is carried out by RCFM and Muskelsvindfonden

Duration: 2014-2017

Project managers: Jørgen Jeppesen, PhD, RCFM’s research center, anthropologist Liv Brandstrup, Muskelsvindfonden

Teenage girls with NMD – a study on girls with NMD, how they experience quality of life and how they cope with difficulties

Aim: The overall aim of the project was to promote the feeling among girls with NMD of being equals in an including context, be it the educational system, at home, at work, in their spare time and everyday life at large.

The purpose of the study was to gather knowledge about:

  • how girls with NMD see themselves in everyday life
  • what they see as their major resources
  • how they look upon their quality of life
  • whether they experience difficulties related to their NMD – and if so, what are they?
  • when possible difficulties appear (in terms of age, functional level, etc.)
  • the consequences of such difficulties, if any
  • what the girls do to cope with such difficulties
  • how other people and/or professionals can support the girls in their efforts to cope

Partners: The project was carried out internally in RCFM

Duration: 2013-2014

Project manager: Occupational therapist, MSI, Ann-Lisbeth Højberg, RCFM’s research center

Publication: Adolescent and female with a neuromuscular disorder: An unexplored issue. A report about Danish experiences

CARE-NMD Improving care of Duchennes muscular dystrophy

Aim: CARE-NMD was a European Project to improve care for Duchenne muscular dystrophy. CARE-NMD aimed to improve patient quality of life and life expectancy, reducing health inequalities between and within countries.

The project brought together leading care centres to disseminate information about best-practice Duchenne care, and to implement international consensus care standards. The CARE-NMD Patient Survey across 7 partner countries, with almost 1100 responses, is the largest ever done survey of care and quality of life for DMD.

Partners: Neuromuscular centers from Denmark, Poland, Hungary, Bulgaria, the Czech Republic, Germany and the UK

Duration: 2010-2013.

Project manager: the University hospital of Freiburg (Germany) by project manager Dr. Janbernd Kirschner

Numbers in rehabilitation among patients with myasthenia gravis

Aim: To investigate the working population with MG, their jobs, income and quality of life, and to follow a Group of newly diagnosed patients to assess the rehabilitation effort.

Partners: RCFM and the neurology departments at the university hospitals in Aalborg, Aarhus, Odense and Copenhagen.

Duaration: The projects is scheduled to be completed in 2014

Project manager: Rehabilitation consultant, PhD Asger Frost, RCFM’s research center

Diagnostics and functional assessment of patients with congenital myopathy in Denmark


Substudy 1

To break down Danish patients with congenital myopathy into correct genetic groups and to make a clinical description of these groups

Substudy 2

To develop a clinical evaluation tool specifically for congenital myopathy

Substudy 3

To ask patients with congenital myopathy to give their own perception on functional impairment

Partners: RCFM and the neurological research unit at Rigshospitalet

Duration: Data collection 2009/2010/2011

Diagnostics and characteristics of patients with congenital muscular dystrophy in Denmark

Aim: To reassess Danish patients with congenital muscular dystrophy to find a genetically verified diagnosis.

To describe the connection between a genetic diagnosis and clinical characteristics

Partners: Odense University Hospital (department for clinical pathology and the pediatric department) RCFM’s research center and Rigshospitalet (pediatric department)


Data collection 2009/2010

Data processing 2010, 2011

Genetic testing is still in progress

Project manager: Henrik Daa Schrøder, Odense University Hospital, Ulla Werlauff,  RCFM’s research center

Parents’ experience with the health care system

A 10-year follow-up study of parent to children with SMA type 1 or 2.

Aim: The project aims to examine the information given to and the involvement of parents in the care and treatment children with spinal muscular atrophy in cases of respiratory problems during their first year of life.

The study is a Danish repetition of a Swedish study. It examines how parents experience their involvement in the decision making regarding the care of their child with SMA type 1 or 2 who suffers from a respiratory disorder during the first year of life.

The study consists of 1: a questionnaire survey which includes parents to children born and diagnosed during the period 2003-2012 with SMA type 1 or 2 who suffer from a respiratory disorder during their first year of life; 2: a supplementary narrative study which includes parents to children born after 1 January 2013.

Duration: The project is expected to start during the fall of 2014

Project managers: Jørgen Jeppesen PhD, Ulla Werlauff PhD