FSHD Foundation Kievietslaan 34
2243 GD Wassenaar
Tel 070 - 511 84 66
Fax 070 - 514 46 92
info@fshd.nl
Bank 49 55 14 934

Projects 2003 – 2007

Together with a number of leading scientists in the field of FSHD, the FSHD foundation has developed a comprehensive research strategy, consisting of a number of key research areas that are considered crucial in FSHD research. All identified research projects can be run independently, but they are also interconnected, as together they determine the search for concrete solutions for FSHD patients. We call this strategy our "Roadmap to Solutions".

The 2003-2007 Roadmap to Solutions led to the following projects and conclusions:

  • Fatigue (calcium regulation and mitochondria): Unfortunately, studies in Ohio, USA showed no clear positive effect of the use of calcium blockers. Via the VSN, a large project of Professor J. Smeitink on mitochondria (the energy ‘factories’ in our cells) was funded by the Dutch Ministry of Economic Affairs and supported by the FSHD Foundation. Since many patients complain of fatigue, more FSHD-directed work is necessary in this area.
  • Oxygen damage: American and French studies were able to demonstrate that free radicals play an important role in muscle cell damage. The University of Montpellier, France was able to find indications of oxygen damage in muscle tissue and blood components in FSHD patients.
  • Epigenetics: A small study was conducted to evaluate the effect of folate (a precursor of methyl groups) on patients. Although no clear effects were observed, scientists believe that a larger clinical trial with folate and antioxidants is advisable. The University of Leiden participated in large projects to better understand the role of methylation on gene expression. The group of Professor Vassetzky (Paris) was able to establish that the organisation of chromatin loop domains in myoblasts of FSHD patients differs from healthy persons and this difference may result in a difference of gene expression in FSHD patients.
  • System Biology: The FSHD foundation was unable to get significant funding for a system biological study on FSHD. However, because the University of Leiden has developed itself as the centre for system biology in the Netherlands, discussions are now taking place whether non-invasive measurements and lifestyle monitoring can be studied in future.
  • Database systems: With the support of the FSHD Foundation, the University of Nijmegen was able to further complete and update their databank of FSHD patients in the Netherlands, so that a comprehensive overview of patient data is now available.
  • Non-invasive techniques: Considerable progress was made in this area, especially at the University of Nijmegen. More studies using non-invasive techniques are going on, and the Centre of Translational Molecular Medicine Initiative will offer new opportunities to study muscular dystrophy with non-invasive techniques.
  • FRG1 and expression in FSHD patients: Evidence has been collected that indicates that over-expression of FRG1P (a protein encoded by a gene closely located to the deletion area of 4q35) plays an important role in the development of FSHD. Other – yet unknown – factors also play a role in the progression of the disease and this will need to be further investigated.

In the period 2003 – 2007, the FSHD Foundation donated nearly €1 million to Roadmap projects. Furthermore, significant funds from governmental organisations were channelled towards FSHD Research through our intervention.