June 25 2021, the ENMC organized a successful online workshop for female carriers. The goal was to refine recommendations for prevention, diagnosis, surveillance and treatment for female carriers of dystrophinopathy. The workshop was organized by Alessandra Ferlini, Anna Sarkozy, John Bourke and Ros Quinlivan, and was attended by 16 participants. The workshop report is now available.
Carriers are a neglected patient group
Dystrophinopathy (DMD) female carriers are a complex clinical and still neglected patient group. Management and research for DMD female carriers still is considered a low priority. There is poor definition of “female carrier status” and “manifesting carrier”, of clinical outcome measures, assessment and management of non-muscle symptoms and use of various novel therapies.
The aims of this workshop were to:
- raise priority and need for much greater clinical and research focus on DMD female carriers,
- highlight unmet needs,
- propose a clinically useful classification of carrier status, and
- demonstrate how available preventative and therapeutic approaches can improve patient outcomes.
Gaps and challenges
These initial discussions have highlighted several important gaps and challenges. The organizers asked each participant to examine their data sets. This can guide the next meeting in November 2021 to see what information can be convened.
What is a carrier?
DMD and BMD are caused by a mutation (change) in a gene. The gene is located on the X-chromosome and is inherited in a recessive manner. This means that in general only boys can have the disease. Females can, however, be carriers, who can pass on the disease to their sons, and the mutated gene to their daughters. In most cases female carriers do not experience any disease symptoms. In some cases, they do and this group is called manifesting carriers.