CMTA’s investment of $1.15 million advanced three CMT research programs by providing scientists with the resources to test their ideas, providing them with the data that help to galvanized nearly $20 million in additional funding from federal and state government grants.
Government grants from agencies like the National Institutes of Health (NIH) and the California Institute for Regenerative Medicine (CIRM) can provide researchers millions of dollars over several years, enough to fund large studies with the longer timelines required to move a discovery toward treatment.
But these agencies don’t fund ideas. They fund evidence. In an intensely competitive process, peer reviewers scrutinize the quality of a study, and a research proposal without strong preliminary data won’t make the cut. For a rare disease like CMT, where the patient population is small and commercial interest is limited, proof-of-concept funding that leads to an NIH or CIRM grant can be hard to come by.
That’s where CMTA comes in. Without early funding, promising CMT research can stall before it even starts. CMTA fills that gap, giving scientists the resources to test new concepts and collect the preliminary data they need to compete for government grants.
Three recent government grants, each traceable to CMTA support, illustrate how this process works in practice.
CMTA2A leads to a CRISPR strategy for 700 genetic diseases
CMT2A is caused by mutations in the MFN2 gene and has more than 200 known variants. Developing a separate gene therapy for each would be complex, expensive, and for rarer mutations, difficult to bring through the stages of clinical development. Bruce Conklin, MD, Senior Investigator at The Gladstone Institutes in San Francisco and a member of the CMTA STAR Advisory Board, believes there is a better approach.
With a grant from CMTA, Dr. Conklin and his team developed a CRISPR-based gene-editing strategy designed to work across all MFN2 mutations rather than targeting each individually. The challenge in CMT2A is to edit only the faulty copy of the MFN2 gene while leaving the healthy copy intact. To find the right approach, the researchers used a method to rapidly evaluate more than 10,000 different editing options in lab-grown human nerve cells. The top candidates were then tested in cell lines engineered to carry common CMT2A mutations, to confirm their ability to target the faulty MFN2 gene.
That initial CMTA-funded work became the foundation for a $5.1 million award from the California Institute for Regenerative Medicine (CIRM). The CIRM grant will scale Dr. Conklin’s approach into a broader platform to address more than 700 genetic diseases, with CMT central to the research. Conklin and his team are testing if an editing strategy first proven in CMTA2A can be adapted to benefit more patients regardless of their specific genetic mutation.
“Genome editing has enormous potential to cure genetic diseases,” Dr. Conklin said in a press release. “Our goal is to develop a platform that accounts for genetic diversity so we can remove that bottleneck and treat a majority of the patient population.”
Fat as a biomarker for CMT4J gene therapy
Before a potential therapy can be tested in people, a pharmaceutical company must file an Investigational New Drug (IND) application with the FDA. This application requires detailed safety and efficacy data from laboratory and animal studies. It also benefits from a validated biomarker – a measurable sign in the body that shows if a disease is progressing or a treatment is working.
For CMT4J, an ultra-rare form of the disease caused by mutations in the FIG4 gene, neither the preliminary data nor a biomarker existed. CMTA invested in research at Elpida Therapeutics investigating muscle fat fraction (MFF) as a biomarker for disease progression in CMT4J. Elpida is developing a gene therapy for this subtype.
Now underway at the University of Texas, Stanford, and the University of Iowa, Elpida is working to validate MFF to track CMT4J disease progression. As muscles atrophy in CMT, healthy tissue is gradually replaced by fat. Using MRI, researchers measure that ratio of fat to muscle over time. Establishing MFF as a biomarker will help regulators assess if Elpida’s CMT4J gene therapy is showing real change in patients.
In support of their gene therapy research, CIRM awarded Elpida two grants totaling nearly $12 million to complete the work needed to begin clinical trials. The MFF biomarker will be an important tool for researchers as this project heads to its next stage.
“By investing in this research, we’re advancing the science behind CMT4J and building the foundation for future treatments that can improve quality of life for all CMT patients,” said Katherine Forsey, PhD, CMTA Chief Research Officer. “Reliable biomarkers like muscle fat fraction are essential for measuring disease progression and determining whether potential therapies are effective.”
CMT4A and CMT2K: From mouse models to an NIH grant
CMT4A and CMT2K are both caused by mutations in the GDAP1 gene, which lead to progressive nerve damage, muscle weakness, and sensory loss. CMTA funded a team at the University of Texas Southwestern Medical Center led by Xin Chen, MD, PhD, and CMTA-STAR Advisory Board member Steven Gray, PhD, to develop and test a gene replacement therapy for CMT4A in a mouse model.
Their approach uses a viral vector to deliver a healthy copy of the GDAP1 gene directly into the nervous system through a single injection into the spinal fluid. In a CMT4A mouse model, a single dose improved nerve conduction velocity and motor coordination. The therapy also partially corrected nerve pathology and appeared safe in long-term studies.
Those results were recognized by the National Institutes of Health. In February 2026, the NIH awarded Chen and Gray a two-year grant to evaluate the therapy in rat models developed with CMTA support. These studies will examine whether the results seen in mice hold up in a model that more closely reflects the severity of disease seen in people.
If the therapy produces consistent benefit with an acceptable safety profile, the data from this study will help establish the evidence to test it in people. Chen and Gray believe this work has implications beyond CMT4A. The scientific groundwork laid here may establish proof of concept for gene replacement approaches for other forms of CMT linked to the GDAP1 gene, including CMT2K.
Before the government writes a check
Government grants are how therapies get to clinical trials. Annually, NIH distributes more than $40 billion and CIRM $5.5 billion to fund medical research. This kind of money pays for the larger studies that virtually no private organization can fund on its own.
But government agencies are big, and their process favors research that’s already proven. For a rare disease like CMT, early-stage research may sit in a blind spot — too early for the NIH, not validated enough for pharma. That’s the gap CMTA fills. We are funding the first studies, building the first models, and generating the data that puts CMT research on everyone’s radar. The nearly $20 million in recent government grants for CMT research started with CMTA donors funding the high-quality work that was too early for others to fully appreciate.
