Research Funded by the CMT Research Foundation

We fund innovative research that has the potential to be quickly translated into treatments.

Active Projects

Research Partner
Key Focus
Advancing Gene Therapy
Promoting Nerve Health
Overcoming the Delivery Challenge
De-Risking Clinical Trials
Status
Developing novel RNA therapeutics for CMT
X
X
This project is in the early stages of identifying which TfR1 antibodies work best with their RNA therapeutics.
Developing novel small molecule splice modulators for CMT1A
X
X
The team is working on validating the sites on the gene that can be targeted for modulation by their small molecule drugs.
Target autophagy pathways as a treatment for CMT1A
X
Lead compounds are being optimized for various drug properties, which will then be tested in a mouse model of CMT1A.
Developing polymer-based delivery vehicles for CMT genetic therapies
X
X
The polymers were capable of encapsulating antisense oligonucleotides and delivering them to peripheral nerve cells in culture.
Screening for small molecule drugs that modulate PMP22
X
Studies are ongoing to test the ability of hit compounds to correct disease phenotypes in cell models of CMT1A.
Targeting inflammation to treat CMT2J
X
X
Reducing inflammation significantly improved disease symptoms after treating mice both before and after onset of symptoms.
Developing late onset CMT1B mouse model for drug testing
X
X
The human MPZ gene insert in the mice is not functioning as expected. This project is on hold until it is determined what went wrong.
Optimizing virus-based delivery of CMT gene therapies
X
Large libraries of new adeno-associated viruses are being generated and will soon be tested for Schwann cell and peripheral nerve delivery.
Testing a novel gene therapy for CMT1B
X
X
The gene therapy has demonstrated promising preliminary results. Additional testing and optimization of the gene therapy are underway.
Characterizing new mouse model of CMT1J for drug testing
X
X
Expansion and characterization of the CMT1J mouse colony is ongoing. They are also planning to test a new therapy approach in the mice.
Testing inosine for treatment of CMT1X
X
Sample analysis is underway to determine if molecular and structural improvements have occurred in the nerves of treated mice.
Testing a commercially available drug on CMT1X
X
The team is preparing to begin testing the drug in mouse models of CMT1X.
Leveraging inflammation to improve delivery of drugs for CMT1X
X
X
The team is testing their delivery system for the ability to delivery to the peripheral nerve of CMT1X mice.
Testing a novel gene therapy for CMT2E
X
X
Treatment with the gene therapy has demonstrated improvement in disease symptoms in a mouse model of CMT2E at multiple ages.
Investigating new druggable targets for CMT4
X
Additional tests are being done to gain a better understanding of how the biological pathways can be targeted to lead to disease improvement.

Completed Projects

Research Partner
Key Focus
Advancing Gene Therapy
Promoting Nerve Health
Overcoming the Delivery Challenge
De-Risking Clinical Trials
Status
Biodistribution of a gene therapy candidate for CMT1A
X
X
The gene therapy was safe and effective in a larger animal study. Additional activities to prepare for clinical trials are being conducted.
Testing novel RNA therapies for CMT1A
X
X
DTx Pharma and their CMT1A drug candidate was acquired by Novartis in 2023. The CMT1A drug candidate is advancing toward clinical trials.
Developing novel drug candidates that target HDAC6 for the treatment of CMT1A
X
Augustine Therapeutics intends to initiate a Phase 1 clinical trial in 2025 with their lead drug candidate for CMT1 and CMT2
Identifying non-viral delivery systems for CMT gene therapies
X
X
The screening system used was insufficient for the peripheral nerve. The team is now exploring a new technique for screening.
Testing drug candidates that target HDAC6 for the treatment of CMT1A
X
Oryzon nominated ORY-4001 as the drug candidate for CMT and is now completing additional experiments to advance it to clinical trials.
Identifying a novel RNA therapy for CMT1A
X
X
Shift identified a lead drug candidate. They are now conducting additional experiments to advance the drug program.
Developing a novel gene therapy for CMT1A
X
X
The gene therapy was licensed to Armatus Bio, which is now moving the lead drug candidate forward toward clinical trials.
Targeting cellular stress to treat CMT1B
X
The positive results of this study have led to additional funding to also test the drug candidate in CMT1A and CMT1E.
Targeting axon degeneration in CMT2A
X
Provisional patent 63/497,921 was filed on May 24, 2023. Their PIKfyve program was licensed to Takeda in September 2023.
Testing AcuraStem's PIKfyve inhibitor drug in CMT4B1
X
Dr. Bolino concluded that this specific compound is not a viable therapeutic candidate for CMT4B1.

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