Congenital Muscle Disease International Registry and BioBank
The Congenital Muscle Disease International Registry (CMDIR) was created to identify the global congenital muscle disease population for the purposes of raising awareness, establishing standards of care, and developing clinical trials in pursuit of treatments or cures. This registry includes congenital myopathies (all subtypes) and congenital muscular dystrophies (all subtypes) and registers the limb girdle spectrum for both disease groups. The CMDIR does not collect blood or cells; it collects information and medical records. However, the CMDIR does interact with the CMD BioBank to provide clinical information in a way that ensures privacy.
The purpose of the CMD BioBank is to accelerate research in the congenital muscle diseases. The CMD BioBank is focused on setting up 4 important types of resources for scientists to work with: fibroblast cell lines, lymphoblast cell lines, buffy coats and iPS cell lines. For more information on each of these resources, please see the glossary.
What is a patient registry?
A patient registry is a database of medical information gathered to:
- Count the number of people with a given disease
- Raise awareness
- Support research working towards a cure
- See how the disease affects people differently
- Connect researchers and families for treatment
- Help doctors make the best health plan for people with muscle diseases
A registry is like a phonebook that stores names, phone numbers and additional information linked to a person’s profile.
What is a BioBank?
A BioBank is a collection of samples from the body. The CMD BioBank collects blood and skin samples and stores genetic information like a bank stores money. People who have a congenital muscle disease make deposits into this BioBank for scientists to use. These donations are called samples. You can make a deposit by giving blood or a small sample of skin. Scientists can make a withdrawal on the information similar to how people take money out of their bank. These samples are kept at the NIGMS Repository at Coriell Institute for Medical Research.
How are the patient registry (CMDIR) and the CMD BioBank linked?
The CMDIR is working with the CMD BioBank to link information that describes the donor, such as highest motor function, and whether or not the donor is using breathing support or is taking any medications. This information is useful to scientists who will know more about the person who donated the sample. To protect your privacy, the information shared does not include names, addresses, or dates of birth.
How can you help?
A phone book cannot work without names or numbers and a bank cannot work without money. To be complete, the CMDIR cannot work without your information and a BioBank cannot work without donations of human genetic material. Consider making a deposit by giving blood or a small sample of skin. Donations are matched to information in the patient registry in a way that ensures privacy.
Why should I register in the CMDIR?
Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what their diagnoses are and how the disease is affecting individuals.
Why should I donate to the CMD BioBank?
When you donate a sample, whether blood and/or skin, you are enabling scientists to study how the disease affects a person like you. Scientists need this information to help understand these diseases, identify new genes, find genes that modify disease severity, and work towards a cure.
Who can donate?
People with congenital myopathy (all subtypes) and congenital muscular dystrophy (all subtypes) through the limb girdle spectrum for both disease groups. You do not have to have genetic test results to participate. If you have not yet had genetic confirmation of your diagnosis, CMDIR genetic counselors can help you find a national center to review your case with a congenital muscle disease specialist.
Diagnoses included in the CMDIR:
Congenital muscular dystrophy subtypes:
- Ullrich CMD (early onset) and Intermediate Collagen VI myopathy
- Laminin Alpha 2 deficient CMD (MDC1A/Merosin def CMD)
- CMD, undiagnosed (including merosin positive)
- Dystroglycanopathy (WWS, MEB, Fukuyama)
- Integrin alpha 7 deficiency
- Integrin alpha 9 deficiency
- Laminopathy (Lamin A/C)
- SEPN 1 related myopathies: SEPN1 (selenoprotein deficiency)
- Bethlem myopathy
- Dystroglycanopathies (LGMD2K, LGMD2I, LGMD2L, LGMD2N)
Congenital Myopathy subtypes:
- Actin aggregation myopathy
- Cap disease
- Central core disease
- Centronuclear myopathy
- Congenital fiber type disproportion
- Core rod myopathy
- Hyaline body myopathy
- Multi-minicore myopathy
- Myotubular myopathy
- Nemaline myopathy
- Tubular aggregate myopathy
- Zebra body disease myopathy
- Congenital myopathy, other
Later onset subtypes of myopathy:
- Reducing body myopathy
- Sarcotubular myopathy
- Spheroid body myopathy
How do I give to the BioBank?
Make a deposit by giving blood or a small sample of skin. To donate a sample to the BioBank you or your child must have been diagnosed with congenital muscle disease (knowing the genetic cause is not necessary).
- Get a kit to gather the sample and forms by contacting: CMD BioBank Genetic Counselor Tara Schmidlen, MS, CGC at (856) 757-4822 or e-mail her at firstname.lastname@example.org
- Fill out the paperwork Tara Schmidlen sends you and return it with your donation.
- Have blood drawn and/or get a small sample of skin from a skin biopsy. Blood or skin samples must be done Monday through Thursday to guarantee arrival by Friday. You can coordinate a blood draw with other tests, but will need to obtain a kit with collection tubes from Tara Schmidlen. You can coordinate a skin biopsy during another surgical procedure, and will need a kit from Tara Schmidlen. We recommend having 2 tubes of blood drawn (2 teaspoons).
- Mail it back by FedEx using the label that Tara Schmidlen sends you. That way the shipping will already be paid for. Be sure to include your paperwork with your sample.
Is the CMD BioBank collecting samples from parents and siblings or only affected individuals?
The CMD BioBank is collecting samples from parents and siblings, if the affected individual has also donated a specimen. Obtaining blood samples from family members and the affected individual will make future “epigenetic studies” that look at disease modifying genes possible. Some forms of congenital muscle disease may be milder and others more severe. Identifying genes that may impact disease severity other than the known disease-causing genes ,enables a better understanding of the disease and may provide a potential treatment target.
What happens to my sample once it is donated?
Your blood will be spun down and cells will be removed. These cells will be encouraged to grow and multiply. Once the cells are thriving, they will be put into separate test tubes and stored in a freezer. The cell lines, called lymphoblast cell lines, will then be placed in the NIGMS Repository catalogue to allow scientists to obtain the cells for research. A similar process is used for the skin cells. If you are able to donate 2 tubes of blood, your second tube will be spun down to create a “buffy coat”. The buffy coat contains white blood cells, which are stored, without creating cell lines for future genetic studies.
Do I have access to the cells I donate?
Once you or your family member donates a sample, the cells belong to the NIGMS Repository at Coriell. Because of the steps Coriell takes to ensure privacy and confidentiality, once a sample has been given, ALL identifying information is removed. This means that you will not have access to your cell lines. You will also not be told which researchers have requested your cells. You will not receive results of any testing performed on your sample or on materials made from your sample.
Does it cost money to donate?
Coriell will pay for the cost of shipping but cannot pay for any fees that come from having your blood drawn or having a skin biopsy taken. (For example, co-payments or blood draw/biopsy fees). It may be simplest to collect the sample during a regular doctor’s visit or when blood is being drawn for another reason.
How does the BioBank maintain my privacy and confidentiality?
Coriell takes the privacy and confidentiality of each donor very seriously. They use the following measures to protect the privacy of sample donors:
- Assign a code number to each sample
- Remove the donor’s name and any personally identifying information
- Follow strict guidelines that forbid us from distributing ANY personally identifying information to recipients of materials generated from donated samples
- A Certificate of Confidentiality from the National Institutes of Health protects the repository from being compelled by federal, state or local court order to disclose your participation without your written consent.
What Congenital Muscle Disease organizations support the registry and BioBank?
Joshua Frase Foundation
A Foundation Building Strength for Nemaline Myopathy
Treat NMD Neuromuscular Network
SAM – Struggle Against Muscular Dystrophy
Association Francaise contre les Myopathies
Muscular Dystrophy Campaign
Muscular Dystrophy Queensland
How will my sample be used?
Samples donated to the CMD BioBank can be used by scientists for a variety of purposes, including:
· Development of therapies
· Discovery of disease genes and their function and further study of known genes/gene expression
· Development of new genetic tests
For more information, please contact: Tara Schmidlen, MS CGC, Genetic Counselor for the CMD BioBank at 856-757-4822 or email@example.com
Fibroblast: a connective tissue cell
Lymphoblast: a precursor cell that develops into mature white blood cells
Buffy Coat: the portion of a blood sample that contains white blood cells and platelets
Cell line: a population of constantly dividing cells
iPS: induced pluripotent stem cells, also referred to as “man-made” stem cells. A type of pluripotent stem cell artificially created from a non-pluripotent stem cell (often a fibroblast) by forced expression of specific genes.
Pluripotent: a stem cell with the ability to develop into multiple different cell types