A new European study, led by Dr Nicol Voermans of Radboud University Medical Centre, The Netherlands, is looking into the possible muscle symptoms in female carriers of myotubular myopathy. The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus manifesting and confirmed female carriers too.
Dr Voermans has a special interest and expertise in congenital myopathies and the study team consists of Professor Ulrike Schara, Essen (Germany), Professor Heinz Jungbluth, London (UK) and Dr Carsten Bonnemann, NIH (USA).
This study concerns all female relatives of boys and men with the x-linked form of myotubular myopathy whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins, with the aim being is to visualise the entire spectrum of symptoms in carriers.
The study consists of a number of digital questionnaires which you can fill in at home. A possible follow up of this study will be performed in the future, when the coronavirus situation allows it. The follow up would consist of some simple neurological tests.
The results of the study will give a better understanding of the disease and improve the health care for female carriers. In addition, it can contribute to clinical trial preparedness.
To be able to participate in this study, you must be 18 years or older and you must be able to fill in the digital questionnaires. This study is currently limited to Europe.
If you are interested in participating and would you like to receive more information about this, email congenitalemyopathie.neuro@radboudumc.nl to express your interest.
