Consent to Participate in the CMDIR

Understanding your Participation in Congenital Muscle Disease International Registry (CMDIR)

The purpose of the CMDIR is to assist clinicians, researchers, and pharmaceutical companies in understanding the spectrum of congenital muscle disorders, detecting treatment targets, and developing clinical studies and trials to test potential therapies. Collecting your information will enable the CMDIR and researchers to learn more about the scope and impact of this group of genetic disorders on affected individuals, families and caregivers. Your information is crucial to the process of learning more about disease symptoms, adverse events, disease complications, and worldwide clinician practice patterns. Your participation will assist the global CMD research community in developing treatments and elevating care standards for people with congenital muscle disease.

What is congenital through mild or late-onset/limb-girdle muscle disease?

Congenital through mild or late-onset/limb-girdle muscle disease includes congenital muscular dystrophy and congenital myopathy, through the late-onset/limb-girdle spectrum of muscle disorders. It also includes congenital myasthenic syndromes. Although this text consistently refers to congenital muscle disease (CMD), we also include late-onset and limb-girdle forms of muscle disease that are part of the genetic spectrum of congenital muscle disorders.

Do I have a choice to enter my or my child’s data in the CMDIR?

Entering your information in the CMDIR and participating in clinical studies and trials is completely voluntary. You can choose not to take part. You can also agree to take part and then later change your mind. There will be no penalty or loss of benefits to which you are otherwise entitled. When you participate in the CMDIR, you can decide how you want to make your data available by opting into different levels of data sharing.

How do I or my child benefit from participating in the CMDIR?

The congenital muscle diseases 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 on our path toward developing clinical trials, treatments, and improved care. By participating, you are benefiting not only you or your child, but the larger congenital muscle disease community.

• Your participation drives an improved understanding of your or your child’s disorder.
• You can compare your survey responses to those provided by other people registered in the CMDIR.
• You can request assistance in understanding your genetic test results.
• You will receive published care management guidelines and other educational resources specific to your condition where available.
• You will receive information regarding online support groups for your condition.
• You will receive information about attending meetings and conferences specific to your subtype.
• You may store and access your medical records in an encrypted database, retrievable by you at any time and from anywhere with an internet connection.
• You will be notified of clinical studies and trials in your CMD subtype as they arise. It is up to you to decide if you would like to participate in a clinical study or trial. You will receive information about clinical studies or trials that may not relate to your specific disorder or for which you may not be eligible. It is up to you to determine whether you or your child is eligible. A CMDIR staff member or study coordinator can assist you in understanding whether you or your child is eligible.

Information indicated above will be shared via the CMDIR website, social media, or direct email. You may opt out of receiving future emails from the CMDIR at any time by clicking the unsubscribe link at the bottom of every correspondence sent.

What do I need to do to participate in the CMDIR?

• Provide your consent to participate in the CMDIR.
• Provide your demographic and contact information.
• Complete a series of surveys. These surveys consist of questions that may be answered by section over multiple sessions, or all at once. If you would prefer that a CMDIR staff member walk you through the survey questions via video or teleconferencing, please contact us at info@cmdir.org.
• Complete additional, periodic surveys as they become available for your disease subtype. You will be notified by email when additional surveys are available to complete.
• Fax, email, or upload your genetic testing results, if available. If you do not have a copy of your testing results, you may complete our Authorization to Release Medical Records that expires annually, allowing the CMDIR staff to request testing results on your behalf.
• Should additional medical records be needed for analysis, we will contact you with information about the purpose of the request, how your records will be used and/or shared, and to request that you submit those records or to request that you sign our Authorization to Release Medical Records.

Can I voluntarily submit my medical records when I register?

The CMDIR appreciates your active participation. If you have access to your or your child’s past or present medical records, you will have the opportunity to upload those records to your CMDIR profile. Records you share with the CMDIR are stored in an encrypted HIPAA compliant database, and will be available to you at any time, and from anywhere with an internet connection upon logging into your CMDIR profile. Your CMDIR profile can be an ideal repository for your records should you ever need to access them for sharing with healthcare providers, clinical trial enrollment coordinators, or benefits payers. The CMDIR will never share your records with an external party without your express consent.

What types of medical reports are useful?

The CMDIR is interested in medical records that pertain to the diagnosis and ongoing treatment of your muscle disorder. These may include testing results, reports or summaries pertaining to:

• genetic testing
• muscle or skin biopsy
• muscle, brain, spine, chest, abdominal or limb imaging
• EMG/nerve conduction
• pulmonary function testing (spirometry)
• sleep study (polysomnography)
• echocardiogram
• DEXA (bone density) scan
• perinatal reports
• clinic visit/encounter reports
• hospital admission/discharge reports
• surgical reports
• autopsy reports (if applicable)
• lab tests, such as Creatine Kinase (CK/CPK), liver function tests, coagulation profiles, vitamin D levels, thyroid, growth hormone or other endocrine levels

What are my or my child’s medical reports used for?

Data may be extracted from your or your child’s medical reports and analyzed alongside your survey responses. Medical report data confirms what you report when answering survey 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.

With whom is my or my child’s information shared?

Your de-identified registry data, meaning no personally identifying information (PII) or personal health information (PHI) will be made available in aggregate, meaning together with other registrants’ data, to the following populations and entities:

• you and all other registrants so that you may compare your responses to others in the database
• Scientists and clinicians working under an approved IRB protocol who are performing research in your specific CMD subtype
• Government agencies as required in compliance with federal, state and local laws.
• pharmaceutical companies interested in investing in treatments for your specific CMD subtype

Depending on your CMD subtype, you will have the opportunity to opt in to sharing your identifying data with several research and advocacy partners that the CMDIR interacts with. These may include:

• The Congenital Muscle Disease Genotype and Phenotype Study at The National Center for Biotechnology Information (NCBI), a division of the National Institutes of Health (NIH)
• The Congenital Muscle Disease BioBank at the Coriell Institute if you have already provided or intend to provide bio specimen samples
• The Congenital Muscle Disease Tissue Repository at the Medical College of Wisconsin if you have already provided or intend to provide bio specimen samples
• Researchers, clinicians, and scientific laboratories working under an IRB-approved protocol who are performing research in your specific CMD subtype
• Patient Advocacy Organizations who are perusing treatments for your specific CMD subtype through funding and advocacy of research, education, and scientific and family conferences

You are not required to share your data with any of the above listed entities, and you may withdraw your consent to share your data at any time. However, if you withdraw your consent, any information that was already released to external parties may be irretrievable.

If you elect to share your identifying data with any of the above listed entities, your data will be transmitted through secure, HIPAA compliant channels, and through the use of de-identifying identification numbers established between the CMDIR and the external entity so that any future data exchanges may be transmitted without again transmitting PII.

Declining to share your data with any of the above listed entities will in no way preclude you from access to educational materials, treatment, enrollment, or eligibility for benefits. However, it may condition your enrollment in clinical studies initiated through the CMDIR.

What are the potential risks involved in enrolling in the CMDIR?

The possible risks involved in enrolling in the registry may be a loss of confidentiality. Loss of confidentiality could potentially occur in the event of a website breach or inadvertent release of data by registry staff members. We have taken every possible precaution to avoid any kind of breach, but the possibility for loss of confidentiality still exists.

Will I be paid for taking part in this registry?

You will not be paid for taking part in this research.

How is my/my child's privacy protected?

The CMDIR is deeply committed to issues of privacy and identity, and will take every available measure to ensure the security of your personal data. The information you provide to the CMDIR will be maintained in a securely encrypted, HIPAA and GDPR compliant database. Information placed in your profile that could identify you, such as name, address, and date of birth (otherwise known as personally identifying information or PII) will never be shared without your express consent.

Will the CMDIR send my records to my healthcare provider upon request?

The CMDIR will not send your records to your healthcare provider. We encourage you to maintain a copy of your or your child’s records in a personal file at home, or make use of your CMDIR profile to upload records that may be easily retrieved at any time for this purpose.

Who can answer my questions about this research?

If you have questions, concerns, or complaints, or think this research has hurt you, talk to the research team at the phone number listed above on the first page.

This research is being overseen by an Institutional Review Board (“IRB”). An IRB is a group of people who perform independent review of research studies. You may talk to them at 1-877-366-5414 (toll-free), or by email at email@aspire-irb.com if:

• You have questions, concerns, or complaints that are not being answered by the research team.
• You are not getting answers from the research team.
• You cannot reach the research team.
• You want to talk to someone else about the research.
• You have questions about your rights as a research subject.

What if I register myself/my child in more than one registry/database?

The CMDIR is currently the largest comprehensive collection of muscle disease affected individuals in the world with over 3,000 registrants from 82 countries (as of April, 2020). There are several databases focused on specific subtypes at various academic institutions and government agencies. We encourage you to participate in more than one registry if they are available for your CMD subtype. One of the goals of the CMDIR is to coordinate activities with other registries and databases where possible to ensure that collected data is shared in a responsible way, and that participants are not double-counted in calculations of disease prevalence. The CMDIR has in place checks and safeguards to help identify duplicated registrants and to coordinate with other registries in placing information in global databases. Your personally identifying information (PII) will always remain protected.

May I withdraw my participation in the CMDIR?

At any time, and for any reason, you may withdraw your information from the CMDIR by clicking the withdraw button here. You may also contact us at info@cmdir.org to have your profile removed from the registry.

As a parent or guardian of an affected child, how deeply should I involve my child in the registration process?

We believe it is important for all registry participants to be as informed as possible. Therefore, if you are a parent or legal guardian of an affected child who is under the legal age of majority, and feel that the child is capable of understanding what it means to participate in the CMDIR, we recommend that you talk with your child and obtain their agreement to participate in this registry. The CMDIR will contact each child upon reaching the age of majority, explain the purpose of the registry, and obtain their consent to continue their participation. We recommend that affected adults register themselves, unless the parent or guardian maintains legal guardianship, the individual cannot physically provide the data, or the individual is deceased.