Therapeutic intervention in Facioscapulohumeral muscular dystrophy (FSHD)

Scientists at Leiden University Medical Center (LUMC), in collaboration with other academic institutions, have discovered and developed novel target mechanisms, as well as in-vitro and in-vivo models, for the development of therapeutic interventions in Facioscapulohumeral Muscular Dystrophy (FSHD).

FSHD is the third most common muscular dystrophy in man with an estimated incidence of 54 per million. Patients suffer from progressive and irreversible weakness and wasting of the facial, shoulder and upper arm muscles. Approximately 20% of gene carriers become wheelchair dependent. There is no cure for FSHD.

Scientists at LUMC, in collaboration with other academic institutions, have discovered two novel target mechanisms whereby the two forms of FSHD can arise. The mechanisms represent targets for therapeutic intervention.

In addition, cell lines and mouse models of FSHD have been developed and can be used to further research the disease and/or to screen and validate potential therapeutics.

The collaborating institutions represent world-leading expertise in the field of FSHD and can also provide ongoing expertise.

Partner companies are now sought for research collaborations in this field, and licensing of key technologies available at the institutions.