CMT2S: A Potential New Treatment on the Horizon
Charcot-Marie-Tooth Disease Type 2S (CMT2S) is a severe axonal type of CMT caused by certain autosomal recessive mutations of the IGHMBP2 gene. CMTA-STAR Alliance Partner Vanda Pharmaceuticals recently received USFDA approval for its Investigational New Drug (IND) for its potential CMT2S treatment. Vanda Pharmaceuticals is planning a clinical trial for their new drug, VCA-894A, in this type of CMT.
What is This CMT2S Research Opportunity?
This CMT2S research study, led by Vanda Pharmaceuticals, aims to identify individuals with CMT2S caused by a specific IGHMBP2 gene mutation—the gene mutation VCA-894A targets. VCA-894A is an antisense oligonucleotide (ASO). ASOs are like tiny pieces of genetic “tape” that can stick to faulty parts of a gene and fix them. This helps correct the gene’s instructions, meaning each ASO drug is designed to target a specific CMT-causing gene mutation.
Where is This CMT2S Research Taking Place?
This research involves a preliminary step in which interested participants are invited to submit their genetic test reports to Vanda Pharmaceuticals and briefly describe their symptoms. Based on this information, the research team will determine if you have the specific IGHMBP2 gene mutation that VCA-894A is designed to treat.
Will I Be Paid to Participate in This Study?
Participants in this initial genetic screening phase are not compensated. However, your involvement is crucial in advancing research that could lead to new treatment options for CMT2S. This opportunity is a preliminary step to identify potential candidates for a future clinical trial.
Who is the Sponsor of This CMT2S Research Study?
Vanda Pharmaceuticals, a CMTA-STAR Alliance Partner, sponsors this CMT2S research study. The study is led by Sandra Smieszek, Ph.D., the Head of Genetics at Vanda Pharmaceuticals, who will oversee the review of all submitted genetic information.
Who is Eligible to Participate in This CMT2S Research?
Vanda Pharmaceuticals is looking to recruit individuals diagnosed with CMT Type 2S and have a genetic confirmation. If you have been diagnosed with CMT2S or suspect you may have it due to your genetic test report showing IGHMBP2 gene mutation(s), your participation could help shape future clinical trials.
How Do I Participate in This CMT2S Research Opportunity?
If you or a family member might be eligible and are interested in participating, please email your genetic test report along with a brief description of your symptoms to the CMT2S Study Team at Vanda Pharmaceuticals: Sandra.Smieszek@vandapharma.com and Christina.Tyner@vandapharma.com. Be sure to put “CMTA Patients as Partners in Research” in your subject line and include all of your contact information.
What Does This CMT2S Research Opportunity Mean for Me?
Participating in this research opportunity could be your first step toward accessing a potential new treatment for CMT2S. By sharing your genetic test report and a brief description of your symptoms, you can help determine if you have the specific IGHMBP2 gene mutation Vanda Pharmaceuticals designed VCA-894A to treat. Your involvement is crucial in identifying candidates for a future clinical trial, potentially bringing us closer to effective treatment options for CMT2S. This research opportunity offers hope for those with CMT2S by contributing to developing treatments.
CMTA’s Commitment to Patient-Centered Research
CMTA remains dedicated to supporting patient-centered research, and with our CMTA-STAR Alliance Partner, Vanda Pharmaceuticals, we are excited to partner with the CMT2S community. Your participation could bring us one step closer to treatments that can make a meaningful difference in the lives of those affected by CMT2S.
CMTA is the global leader in innovative approaches to understanding CMT while working to develop treatments and, ultimately, a cure for this disease. This Patients as Partners in Research opportunity is another example of our commitment to advancing research that improves the lives of everyone living with CMT.
Register With Patients as Partners in Research Today
Not yet registered with Patients as Partners in Research? Click the button below to register today! Registering ensures you are the first in line for any CMT research opportunity you might be eligible for and are interested in. Registration will also keep you updated on all the latest news and developments in CMT research. Registration is free, and everyone with CMT is invited to join.