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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.

Key benefits

  • Novel and valid mechanism for FSHD etiology
  • Novel mechanism for therapeutic intervention
  • In vitro and in vivo models available for therapeutic discovery and development
  • World-leading expertise

Applications

  • FSHD Research
  • FSHD drug discovery and development
  • FSHD gene therapy
  • Epigenetic therapy

Development stage

  • Cell models amenable to high throughput screens
  • Animal models for research and target validation

Luris reference number

INV-060.023

Patent status

Multiple patents in priority year, PCT and in national phase

Data available on request

  • Publications
  • Non-confidential presentations
  • Confidential presentations

Further information

Wilbert van Workum Knowledge Broker (LUMC Div. 4) +31-71-527 2508 w.a.t.van.workum@luris.nl