Patients

Congenital muscular dystrophy

Congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is a group of inherited neuromuscular conditions that causes progressive and potentially life-threatening muscle weakness, affecting frequently newborns and children.1,2

Children born with CMD often have muscle weakness or ’floppiness’ and can also have stiffness of the joints, hip dislocation and a type of curvature of the spine known as ’kyphoscoliosis’. Affected patients have difficulties in walking, maintaining stable body posture and lifting objects.3,4,5 These symptoms can be present at birth or develop during childhood or later in life.1–4

The British Muscular Dystrophy Campaign estimates that one in every 20–50,000 children in the UK is born with CMD.3 CMD conditions are caused by mutations in proteins required for the muscles, and sometimes the eyes and brain, to work properly.1–4 Many types of CMD are stable or progress only slowly, allowing children to acquire new skills and to live a normal lifespan.3,5 However, some severe forms of CMD cause respiratory problems that can be life-threatening as they worsen over time.1–5

No approved pharmaceutical treatments are available or in advanced clinical development for CMD and current therapy is only symptomatic (physiotherapy, speech therapy, occupational therapy, respiratory support, scoliosis surgery).5

Santhera and CMD

We are currently investigating omigapil as a potential treatment for CMD. A phase I trial (CALLISTO) is underway to evaluate its efficacy and safety in the treatment of pediatric and adolescent patients with CMD. You can find additional information on our ongoing trial program at the clinicaltrials.gov webpage.

If you are a registered healthcare professional please click here to find out more about clinical trials of omigapil in CMD.

References

1.

Bertini E, et al. Semin Pediatr Neurol 2011; 18:277–288

2.

Lisi MT & Cohn RD. Biochim Biophys Acta 2007; 1772:159–172.

3.

Muscular Dystrophy Campaign UK: Congenital muscular dystrophies fact sheet. Available here. Accessed December 2015.

4.

Bönnemann CG, et al. Neuromuscul Disord 2014; 24:289–311.

5.

American Academy of Neurology: Summary of Evidence-based Guideline for Patients and their Families – Congenital Muscular Dystrophy. Available here. Accessed December 2015.