The International Registry of Congenital Muscular Dystrophies (CMDIR) was created in 2009 by CureCMD, a patient association of the United States, in collaboration with a group of other organizations, with the aim of identifying the global population of patients with congenital muscular dystrophies (CMD), which, among others, include collagen-VI CMD.
The primary objectives of the CMDIR are:
- Identify all patients with CMD;
- Assist them in the process of genetic confirmation of their diagnosis;
- Raise awareness about congenital muscle diseases;
- Contribute to sharing of up-to-date standards of care;
- Be a centralized source of information;
- Collaborate in conducting natural history studies, recruiting patients for clinical trials and publishing research results; and
- In the future, help identify a treatment or cure for these diseases
The registry is open to any patient who wants to join, by adding their information to the database regarding demographic aspects, specific details of their disease and diagnostic information. To facilitate the process, in addition to online help, the registry has collaborating genetic counselors who can answer patients’ questions and guide them along the path to diagnosis, if necessary.
To date, the registry includes data from nearly 3,000 patients and covers more than 40 congenital muscle diseases. In addition, every day, new patients join in, which increasingly improves the value of the information that can be extracted. That is why Cure CMD receives daily requests to access the database from researchers and companies seeking to deepen their knowledge of congenital muscle disorders.
However, with the current dimension, the time has come when it is necessary to upgrade the entire infrastructure to properly manage such a vast amount of information, and be able to get the most out of it from a clinical and research perspective.
Therefore, after eleven years of operation, and thanks to the contributions of some highly committed organizations such as Noelia Foundation, the platform has been updated to improve the way in which the data is collected, followed-up, communicated, and exploited.
The new version is more accessible and agile in gathering, securing and transmitting data, to contribute to current and future treatment research on CMD. The updated platform will be available as soon as spring 2021 and includes several key improvements:
- Compatibility with mobile devices to make it easier to use by patients
- Multiple language support; although it will initially be available in English and Spanish only, more languages will be added in the next two years
- Data collection surveys are no longer generic but can be customized for each disease or group of diseases, improving the relevance of the data.
- It will make relevant information available to patients regarding their particular disease, on the basis of their specific
- Facilitates the process of data access by researchers and of obtaining the corresponding patient consent
- The analysis system is much more intuitive and facilitates the task of exploiting the data
- It can generate reports that are very complete and flexible to meet the needs of every instance; it uses completely anonymized data that can also be aggregated for all diagnoses, which is extremely useful for researchers and the industry in the design of clinical trials
In short, thanks to this update, the registry is much easier to use, both for patients who must fill in the data, as well as for researchers, in terms of its potential to extract relevant and useful information. In fact, harnessing the power of this new database, CureCMD has already decided to initiate three retrospective studies of natural history to expand the knowledge of the scientific community on these rare diseases.
Project duration and support from Noelia Foundation
3 years (January 2020 – February 2023)
Total investment: US$ 20,000
Contributions made by Noelia Foundation:
- January 2020: US$ 10,000 (Proof of transfer)
- February 2021: US$ 5,000 (Proof of transfer)
- February 2022: US$ 5,000 (Proof of transfer)