Consent to Participate in CMDIR
Understanding your Participation in Congenital Muscle Disease International Registry (CMDIR)
The purpose of the CMDIR is to assist clinicians, pharmaceutical companies, and researchers in understanding and developing new clinical trials for congenital muscle disease (CMD). Collecting your profile information will enable the CMDIR and researchers to learn more about the scope and impact of these disorders on individuals and families. Your information is crucial to learning more about disease symptoms, adverse event rates, disease complications, and clinician practice patterns world-wide. Participation will assist with developing treatments and care for people with congenital muscle disease.
What is congenital through late onset/limb girdle muscle disease?
Congenital through late onset (or limb girdle) muscle disease includes congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome. Although we consistently refer to congenital muscle disease, it applies to late onset/limb girdle disorders that are part of the congenital muscle disease spectrum.
Do I have a choice to enter my or my child’s data in the CMDIR?
Participation in the CMDIR or clinical trials is voluntary. When you participate in the CMDIR, you can decide how you want to make your data available by selecting whether you want to opt into different levels of data sharing (see below).
The CMD’s are individually rare. Understanding a particular disorder requires analyzing data from as many people as possible with that disorder. Analyzing this data from many individuals with the same disorder is a powerful tool to identify possible treatments and improve care. You are benefiting not only you or your child, but the larger CMD community when you register in the CMDIR.
How do I (or my child) benefit from choosing to participate in the CMDIR?
- Your participation drives improved understanding of the disorder.
- You can compare the survey responses you provide to those provided by other people with same or similar symptoms.
- You can request assistance in understanding your genetic test results.
- You will receive care management guidelines specific to your condition.
- You will receive information regarding online support groups for your condition.
- You will be notified of clinical studies and trials in congenital muscle disease as they arise.
What do I need to do to participate in the CMDIR?
- Provide your consent to register in the CMDIR.
- Provide your demographic and contact information.
- Complete the CMDIR Intake Survey (attached).
- Sign an Authorization to Obtain Medical Records to allow the CMDIR to obtain medical records that pertain to the diagnosis and treatment of your disorder.
- Fax or email your or your child’s past and current medical reports if you have them on hand.
- Return annually to your online CMDIR profile to complete an Annual Update Survey.
What are my or my child’s medical reports used for?
Data is extracted from your or your child’s medical reports and entered into your CMDIR profile. Medical report data confirms what you report when answering questions. Certain measurements may improve, stay the same or worsen over time. Following this data to better understand annual rates of change are critical to designing clinical trials.
How is my/my child's privacy protected?
The information you provide to the CMDIR will be maintained in a secure database. Information placed in your profile that could identify you and your family members, such as your first and last name, date of birth and address (personally identifiable information) will not be shared. The CMDIR cannot send your records to a clinical study or doctor’s office. We encourage you to maintain a copy of your or your child’s records in a personal file at home for this purpose.
Your or your child’s genetic mutation(s) if known is not considered personally identifiable. However, given the relative rarity of congenital muscle disease, there may not be more than a few people with any given mutation in any given gene. To decrease recognition, data sharing will only occur in aggregate (meaning including multiple individuals). Your personally identifiable information will not be released. The CMDIR is deeply committed to issues of privacy and identity, and will continue to take every available measure to ensure the security of your personally identifiable information.
What happens to the information I put in my/my child’s profile, and who has access to it?
The goal of this registry is to make the information you provide searchable, while protecting your identity. De-identified data (information from which all personally identifiable information has been removed) from CMDIR profiles will be made available to the congenital muscle disease community of registered patients, family, and medical researchers, in the hope that this de-identified information will support breakthroughs and clinical trials that could lead to better treatments and care management.
The de-identified data collected and compiled by this registry belongs to Cure CMD and is presided over by the CMDIR Governing Board (Cure CMD, Joshua Frase Foundation and A Foundation Building Strength) as well as the CMDIR Scientific Advisory Board. Access to CMDIR profiles is restricted to CMDIR staff; including CMDIR Director of Operations, CMDIR Research Associates and Patient Crossroads (registry host). Your information is not accessible to the CMDIR Governing Board or Scientific Advisory Board.
What databases is my/my child’s de-identified information shared with?
The CMDIR interacts with 3 databases, NCBI (National Center for Biotechnology) at the National Library of Medicine, National Institute of Health (United States), the Congenital Muscle Disease BioBank at NIGMS Repository at Coriell Medical Research Institute (New Jersey, United States) and the Congenital Muscle Disease Tissue Bank. The purpose of each database and the CMDIR’s interaction with the database is explained below. For each database the CMDIR asks that you explicitly elect to opt-into sharing your or your child’s de-identified information by initialing below each section. For each database, we explain what de-identified data will be shared. We recognize that data sharing is an active choice and would like to encourage you to consider data sharing as the only way to collect enough data to draw meaningful conclusions.
CMD Genotype and Phenotype Study (CMD GaP) at NCBI
CMD GaP Purpose:The purpose of CMD GAP is to look at how certain mutations and other variants found during genetic testing of a specific gene or multiple genes can modify disease onset and disease progression over time. This data will help answer questions regarding the frequency of certain variants, clarify which variants are disease-causing and eventually provide clinicians with the ability to provide better anticipatory guidance to families diagnosed with congenital muscle disease.
The de-identified data transferred includes your/your child’s current age, CMD subtype, genetic mutation (s) if known, results of additional genetic testing, data from the Intake and Annual CMDIR survey and data from medical records.. Your de-identifieddata will be housed at NCBI. If you have had genetic testing, your de-identified data will be matched at NCBI with all variants identified during the genetic test performed in a commercial lab for those labs participating in CMD GaP.
CMD BioBank & Tissue Repository
CMD BioBank Purpose:Blood or tissue specimens at the BioBank are turned into cell lines that assist researchers in answering questions about congenital muscle disease and allow researchers to perform searches for drug treatments using cells in high throughput drug screens.
CMD Tissue Bank Purpose:Tissue specimens at the CMD Tissue Bank will be made available to researchers to improve understanding of how different organs and tissues are affected in congenital muscle disease, contributing to an understanding of disease complications.
If you have donated tissue to a CMD BioBank or Tissue Repsitory (including the Coriell CMD BioBank, the Beggs Laboratory, the CMD Tissue Repository at the Medical College of Wisconsin, or the Bonnemann NINDS clinic and laboratory (NIH)), we will create a link between your CMDIR profile and your donated specimens. A limited, de-identified set of data will be shared including: age, gender, genetic mutation, age of onset, CMD subtype, motor function, level of respiratory involvement, cardiac involvement, and brain involvement If you have already donated a specimen or anticipate donating blood or a skin/muscle biopsy, please consent to share this information below. If you decide in the future that you would like to donate and have consented, the CMDIR will contact you to obtain consent for active participation. This matching and transfer of de-identified data only occurs if you or your child has donated specimens to a CMD BioBank or Tissue Repository.
What if I register myself/my child in more than one registry/database?
The CMDIR is currently the only comprehensive congenital muscle disease registry. There are several databases focused on specific subtypes at various academic institutions. It is acceptable for you to participate in more than one registry, though CMDIR stresses the importance of the CMDIR acting as a central coordinating registry. The goal of CMDIR is to coordinate activities with other registries where possible. CMDIR will put in place checks and safeguards to help identify duplication of registrants and to coordinate with other registries in placing information in global databases. You and your child's personally identifiable information that you have provided to CMDIR will always remain protected. At any time, you reserve the right to withdraw your information from the CMD registry. Simply contact a CMDIR staff member, and your profile will be removed.
As a parent/guardian, how deeply should I involve my child in the registration process?
We believe that it is important for all the people participating in this registry to be as informed as possible. Therefore, if you are a parent or legal guardian of a child under the age of 18, but feel that the child is old enough to understand the idea of the registry, we recommend that you talk with your child and obtain his/her cooperation to participate in this registry. The CMDIR will contact each child upon becoming 18 years of age, explain the purpose of the CMDIR and obtain a consent signed by them. We recommend that any individual over the age of 18 register him/herself, unless the parent or guardian maintains legal guardianship, the individual cannot physically provide the data either online or on paper, or the individual is deceased.