Females – both xlmtm carriers and relatives of boys with xlmtm – are invited to join a new study

Are you willing to help with a new European study looking into the possible muscle symptoms in female carriers of myotubular myopathy (MTM1)?  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. In order to join:

  1. Read the full invitation below and email the research team, as requested, if you are interested in joining the study.
  2. The research team will then send you an information letter to carefully read about participation, together with a consent form (digital).
  3. Once you have agreed with the informed consent, the research team will send the questionnaires.

Study Invitation

A European study, led by Dr Nicol Voermans, Radboud University Medical Centre, The Netherlands, will be performed into possible symptoms of the muscles in female carriers of a myotubular myopathy (MTM) mutation.

Dr Voermans has a special interest and expertise in congenital myopathies, and the study team consists of Prof. Ulrike Schara, Essen (Germany), Prof. Heinz Jungbluth, London (UK), and Dr. Carsten Bonnemann, NIH (USA).

This study concerns all female relatives of boys/men with the X-linked form of MTM – whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins. The aim is to visualize the entire spectrum of symptoms in carriers, thus we are looking for as many female participants as possible. 
The study consists out of a number of digital questionnaires which you can fill in at home. Possibly, a follow-up of this study will be performed in the future, when the Corona-virus situation allows it. The follow-up would consist out of some simple neurological tests. The results of this study can give us a better understanding of the disease and improve the health care for female XL-MTM 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.

Are you interested in participating and would you like to receive more information about this? Please send an email to: congenitalemyopathie.neuro@radboudumc.nl in which you indicate that you are interested.

        

Dr. N.C. Voermans, neurologist
S.F.I. Reumers, medical student Radboudumc, Nijmegen, the Netherlands