Frequently Asked Questions
What kinds of questions might the CMDIR help answer?
There are many questions that may be answered through the CMDIR. For example:
- What are the primary symptoms and adverse events for my subtype?
- Which symptoms have the greatest impact on day-to-day living?
- What are affected individuals finding to be the most impactful activities to reduce symptoms?
- Is it possible to predict someone's prognosis based on genetic mutation and the experience of others with the same or similar mutations?
- Where is the greatest need for additional research in order to identify treatments?
- Is (my) VOUS mutation actually disease-causing?
How much data do I need to share, and how much is enough?
The more information you can contribute about your neuromuscular disorder, the better!
Also, the CMDIR will continue to evolve as research advances. Additional surveys may be added and existing ones may change based on future need. Some will be shorter because only a few answers are needed; others will be more comprehensive, as needed, for research.
Your continued commitment to providing information is essential. And we have a commitment to you: To keeping you up to date on how the CMDIR is contributing to research, and to providing you with resources to ensure that you are fully informed about best care practices and clinical trials happening in your subtype.
Why should I participate in the CMDIR?
Simply put, we will not be successful in finding treatments unless we know who the affected individuals are, what their diagnosis is, and how the disease is affecting the individual. In rare disease, every person must be counted!
By registering, you will receive information about:
- Genetic testing opportunities
- Interpreting your genetic report
- Webinars and other educational resources
- Available clinical trials for which you may be eligible
- Available therapies for your CMD subtype when they become available
- The CMD | LGMD | CM | CMS Online Support Community
- Conferences & Events
- Scientific Publications
What is the Congenital Muscle Disease International Registry (CMDIR)?
The CMDIR is an international list of records from affected individuals with congenital through late-onset muscle disorders, including congenital muscular dystrophy, limb girdle muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome. View a detailed list of the neuromuscular disorders we register.
There are currently more than 3,000 registrants from 86 countries, representing 35 different disease subtypes caused by more than 100 genes (and counting).
The CMDIR was created in 2009 to identify the congenital muscle disease population, in order to aid researchers in understanding symptoms and disease course (called the natural history), assist with diagnostics, identify potential treatments, and enroll participants in clinical trials. Data in the CMDIR is registrant-reported and confirmed through medical record curation.
What makes the CMDIR different from other neuromuscular registries?
The CMDIR is the largest global collection of data about affected individuals with congenital through late onset muscle disorders, with over 3,000 registrants from 82 countries. We are the only self-reported registry covering the 35 subtypes and 120+ genes that cause CMD.
Our goal is to advance research toward treatments for all disorders we register. In registering this large cohort of affected individuals, the research community can learn from you and apply your experiences to their work. Academic clinicians and researchers operating under an IRB-approved protocol will be able to access de-identified, aggregate data from the registry for free. Our goal is to make the data collected in the CMDIR as widely available as possible to have the greatest impact on progress toward improving diagnostics, care, and treatments.
Affected individuals and families may also learn from others in the registry. You will be able to compare your survey answers to other registrants and see how much you have in common with others in our global community.
Who funds the CMDIR?
The CMDIR is funded by several advocacy and research partners. You may opt into sharing your informaton with some of these organizations during the course of registration. Otherwise, only de-identified, aggregate data will be shared.
CMDIR Funding Partners
- Cure CMD (registry administrator)
- A Foundation Building Strength for Nemaline Myopathy
- Team Titin
- Noelia Foundation
- Santhera Pharmaceuticals
- Prothelia Therapeutics
If I join the CMDIR, what am I committing to?
We ask that you continue to share your information by completing research questionnaires as they become available. You are free to skip surveys or to withdraw your participation at any time.
How often will I receive updates from the CMDIR?
You will receive periodic updates depending on your disease subtype, pertaining to news about research findings and opportunities to participate in clinical studies or trials.
Undiagnosed registrants may receive information about opportunities to obtain further testing to identify disease causing mutations.
Finally, we will also reach out by email when there is a new research questionnaire available for you to complete.
How can I contribute suggestions for improving the CMDIR?
Can my medical providers access CMDIR data?
Your healthcare providers can participate by helping to spread the word about the CMDIR—please feel free to ask your healthcare team to contact us at email@example.com to obtain marketing information and flyers about the registry.
Your healthcare provider may also request de-identified, aggregate data from the registry to assist in their IRB-approved research, and contribute to our ongoing data collection efforts.
Can my family and friends join the CMDIR?
We welcome registration from family and friends affected by the neuromuscular conditions we register.
Invite a Friend
What kinds of information will I be asked to contribute?
You will be asked to contribute information about diagnostics, family history, symptoms, disease progression, and current treatments being utilized. You may also be asked to provide medical records pertaining to the diagnosis and care of your neuromuscular disorder.
The most important report for us to receive is your genetic testing report that outlines which gene(s) and mutation(s) are involved in your diagnosis.
Why do I need to agree to an informed consent statement to participate in the CMDIR?
We want to make sure that you clearly understand how and why your health data is being requested, as well as the opportunities that you will be offered to share your information with external researchers. We also want you to be fully informed about your participation, and any risks or benefits there are in doing so.
This informed consent statement, along with other materials have been reviewed and approved by an Institutional Review Board.
How often should I visit the CMDIR to update my information?
We request that you visit the CMDIR at least once per year to ensure your contact and diagnosis information is current. You may also periodically receive emails requesting you to log in and answer some additional survey questions. These questions are intended to help you. Your ongoing participation helps ensure that CMDIR data remains responsive to current research needs.
In addition to returning to update your information or take additional surveys, we welcome you to visit as often as you'd like! We will be adding new resources and opportunities to both contribute data and view other registrants' responses. We always welcome your feedback and ideas.
How does the CMDIR protect my privacy and personal health information?
We take your privacy very seriously and have policies and processes in place to safeguard your identity and protect the health information you share with us. Your personally identifying information (PII) and personal health information (PHI) will not be shared without your consent. During registration, you will be given a number of opportunities to opt into sharing your data with external databases and research laboratories. You are not required to share your data, however, doing so will help advance our collaborations with the research community toward treatments.
Will the CMDIR share my data with pharmaceutical companies?
Researchers from pharmaceutical companies and other commercial entities are invited to request de-identified, aggregate data from the CMDIR. These requests, like requests submitted by academic researchers, are carefully reviewed by CMDIR personnel to determine whether sharing data is in the best interest of the affected community. Your personally identifying information (PII) will never be shared without your express consent.
Why should I submit my/my child's medical records to the CMDIR?
Medical records submitted to the CMDIR are used to confirm your diagnosis and better understand the care you are receiving. Through these records, your healthcare providers track the care you've received over time and across different doctors. Medical records contain your health status and medical history, ideally in an electronic format to make it easier for your entire healthcare team to access the information. This results in more coordinated care, helping to improve your treatment and overall health.
The CMDIR curates records you submit to grow the power of our research data. Records that document diagnosis, testing, health status and medical history can be used to answer a number of research questions. By sharing what you can, you play an important part in pioneering new research in congenital muscle disorders.
What if I don't have access to my full medical record?
If you do not have direct access to your medical records, you may complete our Medical Release Form authorizing CMDIR personnel to request medical records on your behalf. This authorization expires annually, so if we would like to request additional records beyond the release form's expiration date, we will contact you to sign a new form.
Medical records we obtain from your healthcare providers will be electronically scanned and stored in our HIPPA-compliant cloud storage account. A selection of records may be uploaded to your CMDIR profile, offering you direct access to these records at any time and anywhere with an internet connection. You may also upload your own records to your CMDIR profile, making the CMDIR a great place to store and access important medical documents.
If I have new medical reports, can I add them to my CMDIR profile?
Yes, absolutely! We are always happy to receive additional reports.
The CMDIR is an effective, secure repository to store all of your medical reports in one place, allowing you to easily share those records with your healthcare providers any time and anywhere with an internet connection.
Who will my submitted medical records be shared with?
Your submitted medical records will never be shared outside CMDIR authorized personnel without your express consent. You may opt into a number of sharing opportunities through the informed consent. As additional opportunities arise, we will contact you to ascertain your consent to share with others working to advanced CMD research.
You are never obligated to share any information with the CMDIR or our research partners, and you may withdraw your consent to share at any time, for any reason. However, though we will make an effort to retrieve data that has already been shared outside the CMDIR, data shared externally may be irretrievable. Please take this into consideration when opting into data sharing in the informed consent.
How does the CMDIR ensure my private medical information remains secure?
The CMDIR takes your privacy very seriously and has policies and processes in place to safeguard your identity and protect your health data. Only a very limited number of authorized personnel will have access to your registry information, and this information is not stored in the same electronic repository as the survey questions you answer. If you opt into sharing your information with our research partners, any identifying information that you authorize us to share will be handled carefully and in compliance with healthcare privacy laws.
In terms of data security, the CMDIR uses industry-standard encryption to protect the information you share.
Are there risks involved in authorizing the sharing of my data?
There are always risks associated with sharing personal information. Please review the informed consent statement for more details about potential risks. The CMDIR has established policies and processes that are consistent with current healthcare privacy laws to minimize your risks and protect your information.
How long will the information I share be stored in the CMDIR?
Information you share will be stored in the CMDIR for as long as the CMDIR exists and you authorize participation. If for any reason this registry is discontinued, you will be notified and you will have the opportunity to download information stored in your CMDIR profile.
You may withdraw your participation at any time, for any reason by visiting your CMDIR dashboard and clicking "withdraw."