About Congenital Myotonic Dystrophy

Congenital myotonic dystrophy (CDM1) is a genetic disease that presents itself at birth. Patients born with CDM1 might have deformed feet, might not be able to breathe or feed properly and might be considered 'floppy' as an infant due to delayed development of muscles. It can affect many parts of the body and can lead to significant physical and cognitive impairment and, in some cases, early death. The most challenging symptoms of MMD1 include:

  1. difficulty with thinking and problem solving;
  2. weakened muscles; and,
  3. speech, hearing and vision difficulties.

Diagnosis is confirmed though a diagnostic evaluation or genetic test.

There are currently no approved therapies for CDM1 and patients are typically treated with drugs to address different symptoms of the disease. Many patients also receive support through special education and speech and physical therapy.



Development & Clinical Trial Update

AMO has initiated a phase 2 clinical study in the United Kingdom for AMO-02 (tideglusib) for the treatment of congenital myotonic dystrophy. This phase 2 exploratory study focuses on patients with congenital and juvenile onset myotonic dystrophy. This is the first sponsor-led clinical study evaluating an investigational therapy in this patient group as part of a development program. AMO Pharma is currently working to finalize plans for further global clinical trials.

More information on the Phase 2 clinical trial for AMO-02 in congenital myotonic dystrophy can be found at https://clinicaltrials.gov/ct2/show/NCT02858908.



Resources for more information about myotonic dystrophy

There are several organizations available to provide information about myotonic dystrophy and the services available to help families:

Myotonic Dystrophy Foundation
http://www.myotonic.org

Myotonic Dystrophy Support Group
http://www.myotonicdystrophysupportgroup.org

Muscular Dystrophy Association
http://www.mda.org

Muscular Dystrophy Association UK
http://www.musculardystrophyuk.org

In addition, many countries now have patient registries for myotonic dystrophy. For additional information on resources and to access a DM family and patient registry, please visit:
https://myotonicregistry.patientcrossroads.org.

Reference:
Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009 Nov;132(Pt 11):3175-86. PubMed PMID: 19767415; PubMed Central PMCID: PMC4038491.