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Charcot–Marie–Tooth Association
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CMTA-STAR Research Projects

Modulating TEAD1 Activity in Charcot-Marie-Tooth Disease Type 1A

Project announced: September 23, 2025
Updated: January 23, 2026
With CMTA support of $281,339, researchers at Albany Medical College, led by Sophie Belin, PhD, and Yannick Poitelon, PhD, are exploring the newly discovered TEAD1 pathway in Schwann cells that may regulate PMP22, the gene at the root of CMT1A.
Sophie Belin, PhD & Yannick Poitelon, PhD

Principal Investigator

Sophie Belin, PhD, & Yannick Poitelon, PhD
Albany Medical College

Therapy / Approach

Small Molecule

Project Duration

3 Years

Total CMTA-STAR Project Investment

$281,339

Active

Augustine Therapeutics – AGT-100216

Project announced: May 30, 2025
Updated: August 19, 2025
The Phase I trial will focus on safety, tolerability, and pharmacokinetics (how the drug moves through the body) in healthy volunteers. Phase I trials are a foundation of clinical research. They help determine whether a new drug is safe enough to move forward into studies involving people with the disease it’s intended to treat.
CMTA Strategy To Accelerate Research (CMTA-STAR) logo on a white background

Principal Investigator

Augustine Therapeutics
Augustine Therapeutics

Therapy / Approach

Clinical Trial - Phase 1

Total CMTA-STAR Project Investment

Unknown

Active

Long Read Sequencing in Undiagnosed Axonal CMT Patients

Project announced: April 22, 2025
Updated: November 24, 2025
The answer is hiding in your DNA. For some, it hasn’t been found yet. This CMTA-funded study uses long-read sequencing to uncover genetic causes of CMT that standard tests may miss.
Mr. Cortese

Principal Investigator

Andrea Cortese, MD, PhD
University College London / National Hospital for Neurology

Therapy / Approach

Gene Identification

Project Duration

2 Years

Total CMTA-STAR Project Investment

$210,000

Active

AAV9-Mediated Gene Therapy to Treat Inherited CMT Neuropathies With Aberrant Myelin

Project announced: April 3, 2025
Updated: September 11, 2025
This CMTA-funded study is testing a gene therapy approach for CMT4B1, a rare form of CMT that affects the myelin around nerves. Early results are encouraging, showing potential to restore nerve health by delivering a working copy of the affected gene.
Ms. Bolino

Principal Investigator

Alessandra Bolino, PhD
IRCCS Ospedale San Raffaele

Therapy / Approach

Genetic Therapy - AAV

Project Duration

3.5 Years

Total CMTA-STAR Project Investment

$442,334

Active

ACT-CMT: Long-Term CMT1A Natural History and Biomarkers

Project announced: March 31, 2025
Updated: December 19, 2025
With CMTA support of $1.2M, David Herrmann, MB, BCh, MD, and his team at the University of Rochester are moving forward with the next phase of the Accelerate Clinical Trials in CMT (ACT-CMT) study. Early efforts focused on preparing all clinical centers to begin, and included protocol updates, IRB approvals, and refresher training to ensureContinue reading "ACT-CMT: Long-Term CMT1A Natural History and Biomarkers"
Mr. Herrmann

Principal Investigator

David Herrmann, MB BCh, MD
University of Rochester and INC sites

Therapy / Approach

Biomarkers / Natural History Study

Project Duration

2 Years

Total CMTA-STAR Project Investment

$1,209,729

Active

Allele-Specific Silencing of MFN2 to Treat Peripheral Neuropathy

Project announced: March 25, 2025
Updated: September 30, 2025
With CMTA support of $300,000, CMTA Strategy To Accelerate Research (CMTA-STAR) Advisory Board member Bruce Conklin, MD, and his team at The Gladstone Institutes are developing a CRISPR-based strategy to treat CMT2A, which is caused by mutations in the MFN2 gene. Instead of creating a separate treatment for each of the more than 200 knownContinue reading "Allele-Specific Silencing of MFN2 to Treat Peripheral Neuropathy"
Mr. Conklin

Principal Investigator

Bruce Conklin, MD
The Gladstone Institutes

Therapy / Approach

Genetic Therapy - CRISPR

Project Duration

2 Years

Total CMTA-STAR Project Investment

$300,000

Active

Tiny Movers, Big Clues: Dr. Manor Uses AI to Shed Light on CMT2A

Project announced: March 17, 2025
Updated: January 23, 2026
With CMTA support of $90,860, researchers led by Uri Manor, PhD, at the University of California, San Diego, are advancing therapeutic approaches for CMT2A by applying a deep learning-based Artificial Intelligence (AI) imaging platform to study organelle transport. In CMT2A, mutations in the MFN2 gene disrupt the mobility of mitochondria, the cell’s powerhouses, and lysosomes,Continue reading "Tiny Movers, Big Clues: Dr. Manor Uses AI to Shed Light on CMT2A"
Uri Manor, PhD

Principal Investigator

Uri Manor, PhD
University of California, San Diego

Therapy / Approach

Research and Clinical Tools

Project Duration

2 Years

Total CMTA-STAR Project Investment

$90,860

Active

CMT2A Biomarkers and Natural History

Project announced: March 10, 2025
Updated: December 30, 2025
With CMTA support of $572,055, researchers at the Inherited Neuropathy Consortium led by Michael E. Shy, MD, are working to track disease progression and identify biomarkers in CMT2A. By studying blood, skin biopsy, and MRI biomarkers alongside clinical assessments, this project aims to develop critical tools for future clinical trials and advance CMT2A research.
Michael Shy

Principal Investigator

Michael E. Shy, MD
Inherited Neuropathy Consortium

Therapy / Approach

Biomarkers and Natural History

Project Duration

4 Years

Total CMTA-STAR Project Investment

$572,055

Completed

Building the Largest CMT Patient Data Set

Project announced: March 10, 2025
Updated: August 21, 2025
CMTA has committed $206,000 over three years to support the Inherited Neuropathy Consortium (INC) in advancing CMT research. Since September 2022, this funding has sustained 20 clinical sites, supported over 20 scientific publications, and enabled large-scale natural history studies of CMT1B and CMT1X. With more than 7,000 patients enrolled, INC’s data set is critical for future clinical trials and Investigational New Drug (IND) approvals.
Michael Shy

Principal Investigator

Michael E. Shy, MD
The Inherited Neuropathy Consortium

Therapy / Approach

Natural History

Project Duration

3 Years

Total CMTA-STAR Project Investment

$206,000

Active

Actio Biosciences – ABS-0871

Project announced: March 3, 2025
Updated: August 21, 2025
The Phase I study is a randomized, double-blind, placebo-controlled trial evaluating the safety, tolerability, and pharmacokinetics of ABS-0871 in healthy volunteers. Pharmacokinetics refers to how a drug is absorbed, distributed, broken down, and eliminated from the body. Data from this study will inform future clinical trials in CMT2C.
Actio Biosciences

Principal Investigator

Actio Biosciences
Actio Biosciences

Therapy / Approach

Clinical Trial - Phase 1

Total CMTA-STAR Project Investment

Unknown

Active

Simply CMT