STAR Research Updates

2015 STAR Research Update

2015 Research Update

STAR Research Updates by Type

Samuel and Urijah Faulds

Samuel and Urijah Faulds

Type 1A

CMT Type 1A is caused by the duplication of the Peripheral Myelin Protein 22 (PMP22) gene, which results in damage to the protective coating, or myelin, around the peripheral nerves. Our partnership with Genzyme, a Sanofi company, has identified a handful of compound series for treating CMT1A. Additionally, five other pharmaceutical companies are in the early stages of testing compounds believed to have positive effects on CMT1A. We have improved the process for transforming adult human stem cells into Schwann cells (the cells that make myelin), preparing for a human cell assay. Laboratory models continue to reproduce robustly and the clinical data base is expanding as we prepare for clinical trials for CMT1A.  Read more…

Lia O'Sullivan

Lia O’Sullivan

Type 1B

Innovative work at the University of Iowa and the National Institutes of Health (NIH) is underway to determine the role of Myelin Protein Zero (MPZ), the protein believed to cause CMT1B.  Dr. Brittany Wright at the NIH is developing three cellular assays and laboratory models and adult stem cell development is underway. In addition, an effort to develop animal models of CMT1B is now underway at the University at Buffalo. Read more…

William Stuhlmueller

William Stuhlmueller

Type 1X

Dr. Rudolph Martini at the University of Würzburg, Germany, has been investigating whether human mesenchymal stem cells can relieve neuropathy in a rodent model of CMTX. Modifying the immune system to improve nerve function is a new approach for treating CMT. Dr. Martini’s laboratory has also tested in this model drugs obtained from our pharmaceutical partners and thought to target immune processes affecting CMTX. Early positive results from anti-inflammatory compounds have been found in laboratory models and further investigation is underway. Read more…

Tessa Pate

Tessa Pate

Type 2A

CMT2A is caused by dominant mutations in the protein MFN2, creating an imbalance in MFN1 and MFN2 that leads to improper mitochondrial function.  The approach to treatment is to rebalance the proteins to normalize the mitochondrial function. The STAR team has developed two  robust laboratory models for two mutations. Characterization of the models is underway and they will be ready for testing potential pharmaceuticals when complete. Assays that can measure upregulation of Mfn1f are underway in preparation for drug candidate screening. Read more…

Julia Beron

Julia Beron

Type 2E

CMT2E is caused by dominant mutations in the neurofilament light protein (NEFL) that prevent it from assembling properly, resulting in the formation of aggregates or abnormal filaments. A team of 2E experts has met to discuss the pathway toward drug delivery. Laboratory models have been built and are being characterized and validated, preparing for drug candidate screening. Read more…

Paige Rodgers

Paige Rodgers

Type 4

Dr. Kleopas Kleopa at the Cyprus Institute of Neurology and Genetics has begun to explore gene therapy options to treat CMT4C.  Dr. Kleopa is focusing on the possibility of using gene editing to treat CMT4C.  Read more…

Unidentified Types of CMT

Julianna and Steve Snow

Julianna Snow (2010-2016) and her father Steve. Julianna and Steve had an unidentified type of CMT when she passed away at age 5.

 

Every year more types of CMT are identified by STAR researchers, but there are many left to discover.  Identifying mutations is an important first step in the process.  The CMTA is helping to identify the mutation and type of CMT that little Julianna Snow had so we can put a STAR project in place to work toward a treatment for her father and other people affected by it.  If your type is not yet identified, please visit a CMTA Center of Excellence to share your DNA with our STAR database to accelerate the pace of discovery.

If you haven’t had genetic testing to learn what type of CMT you have, please visit the genetic testing page to learn more.