Participate in research
All studies with human participants are listed on the ClinicalTrials.gov website, a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world for many medical conditions including centronuclear and myotubular myopathy. The website enables those wanting to participate in clinical trials to:
- read about the studies being conducted and learn about what happens during a study
- find information on eligibility to participate in a study
- learn about the risks and benefits of study participation, the informed consent process and questions to ask when considering whether to participate in a study
Patient databases and registries
Patients can also take part in research by participating in the establishment of a patient database or registry which collates clinical and genetic details and makes them easily available for the researchers. Such projects are important as researchers are still trying to identify genes implicated in centronuclear and myotubular myopathy - patients and families can speed up the process by taking part as the more researchers know about those with centronuclear/myotubular myopathy the more progress they will make in finding a cure.
Individuals can enrol in research projects by asking for their DNA to be sent to a research laboratory. Large families with several affected family members are especially suited for this kind of research but sporadic cases could be helpful too. Some examples include:
- Audentes Therapeutics, USA
This study of x linked myotubular myopathy entitled RECENSUS: A Medical Chart Review of Patients with XLMTM. aims to collect information from medical charts in order to characterise aspects of the condition and associated medical care for males with XLMTM. For further information and to get involved visit the ClinicalTrials.gov website.
- Beggs Laboratory, Boston, USA
Congenital myopathy research programme involving over 1,000 people with different congenital myopathies, including more
than 200 with CNM/MTM. For further information and to get involved email email@example.com.
- IGBMC, France
Project aiming to help patients who have not been able to find out which genes have caused their form of centronuclear myopathy to identify the exact mutation. For further infomation and to get involved contact Dr Johann Bohm, 1, Rue Laurent Fries,
France or email firstname.lastname@example.org.
- The Hospital for Sick Children, Toronto, Canada
Currently running RYR1 genetic testing on a limited research
basis. For further information and to get involved email James Dowling or Kimberley Amburgey.
Other research projects
Other research projects are ongoing throughout the world to gain further understanding of CNM/MTM and these can be viewed below.
There are also patient groups who currently fund research.
Sharing your personal data
TREAT-NMD is a network for the neuromuscular field, bringing together leading specialists, patient groups and industry representatives. Their purpose is to ensure readiness for the trials and therapies of the future while promoting best practice today. TREAT-NMD has recently produced some guidelines to assist patients considering joining a registry. These guidelines are intended to help you make sure your data is only shared with those you want to share it with. The guidelines also apply to other personal information you might provide to organisations, for example case studies or photographs.
Patient participation in registries, databases, studies and clinical trials are a critical part of the search for new treatments for rare neuromuscular diseases such as centronuclear and myotubular myopathy. Without patients it is not possible to learn important information about the diseases or advance the search for new therapies. Registries make it easier to recruit patients for clinical trials by identifying suitable patients for particular trials and by contacting and informing them quickly when there is a trial they might be interested in. The existence of the registry could even encourage new research because researchers are made aware that there are already a number of patients who would be interested and easily contactable. Registries can also be used to inform patients about new treatments that might be relevant to them, to provide scientists with important information about the prevalence and course of the conditions and to give doctors up to date information on managing the conditions.
Protecting your personal data and being a smart registry or study participant is important. You can download the document below.