Our bodies are made of many types of cells, each with a specific purpose. Early on in development, however, cells haven’t been assigned a “purpose” yet. These early cells are called stem cells – and they serve an important purpose. Stem cells are the building blocks of the human body. They can continually renew and make more of themselves, and they can become cells with specialized functions.
Stem cells collected from CMT patients are an important tool for CMT research. They can be turned into neurons and glia, cell types that are affected by CMT disease. If we can study these cells, we can increase our understanding of CMT and test the effectiveness of new treatments more quickly.
Stem cells can be used to advance the understanding and treatment of CMT in three ways:
- Disease research: Study how cells affected by CMT develop and dysfunction, and how that might vary.
- ‘Clinical trials in a dish’: Test drugs to identify the safest and most promising options for future clinical trials.
- Cell replacement therapy: Generate cell types that are affected by CMT, correct their dysfunction, and use these new cells to replace the damaged or dead ones in the patient’s body.
The CMTA is investing in the creation of new stem cells lines to cover more types of CMT and ensure we have representation from both sexes. We need adults from the CMT community who have specific types of CMT to volunteer to donate a small blood sample and a small skin sample. Check below for the list of CMT types we need.
Partner NYSCF
The CMTA is working with the world-renowned New York Stem Cell Foundation (NYSCF) on this project. Our joint mission is to accelerate cures for CMT. NYSCF’s independent laboratory is a non-profit accelerator that reduces the cost, time, and risk of developing new treatments and cures. NYSCF uses samples from CMT patients to create stem cells and stores and shares samples and cells with the CMTA’s researchers worldwide to help us accelerate the development of treatments.
What is Involved?
Participation involves providing samples (small amount of blood, a very small skin sample, and a saliva sample) and health information. Sample collection will be at a NYSCF site in Manhattan, New York USA. Alternatively, at-home or local collections can also be arranged (within the USA) if travel is a barrier to participation. You will need to be able to provide your genetic test report showing one of the specific mutations listed below. Due to the requirements of the collection process, we can only accept applications from persons living within the USA.
What CMT types are needed?
Please fill in the expression of interest form linked below if you have the subtype, specific mutation, and biological sex listed below:
- CMT1A, PMP22 duplication, female
- CMT1A, PMP22 duplication, male
- CMT1B, MPZ (p.Thr124Met) aka T124M, female
- CMT1B, MPZ (p.Arg98Cys) aka R98C, female
- CMTX1 (aka CMT1X/CMTX), GJB1 del mutation, male
- CMTX1 (aka CMT1X/CMTX), GJB1 (p.Ser26Leu) aka S26L, male
- CMT2A, MFN2 (p.His361Tyr) aka H361Y, male
- CMT2A, MFN2 (p.Arg364Trp) aka R364W, male
- CMT2A, MFN2 (p.Thr105Met) aka T105M, male
- CMT2A, MFN2 (p.His361Tyr) aka H361Y, female
- CMT2A, MFN2 (p.Thr105Met) aka T105M, female
- CMT2E, NEFL (p.Asn98Ser) aka N98S, male
How do I take part?
Please follow the link below to the expression of interest form. The expression of interest should take no more than 5 minutes to complete. Completion of the expression of interest form does not commit you to taking part in the study or guarantee that you will be eligible to participate.
If selected, you will be contacted by NYSCF who will confirm your information, determine eligibility, and provide full details about the study procedures. If you decide to participate, NYSCF will ask you to sign a consent form and arrange your sample collection.
Details provided on this form will be accessed only by the CMTA staff and NYSCF staff involved in this study. By completing this form, you are allowing CMTA and NYSCF staff to securely view and store your information and contact you for the purposes of this study.
We may not be able to contact non-selected applicants due to the volume of applications, but we are hugely grateful for your interest in this study.
Secure expression of interest form: https://forms.office.com/r/m0LuE1TxJV