UF researchers help lead international studies into two rare neuromuscular disorders

By Michelle Koidin Jaffee

(From left) Drs.
(From left) Drs. Manuela Corti and S.H. Subramony

Researchers at the University of Florida are partnering with colleagues from top peer institutions to advance the understanding of two rare hereditary neuromuscular disorders — Friedreich’s ataxia and Facioscapulohumeral Muscular Dystrophy, or FSHD, both of which typically lead to the need of a wheelchair by young adulthood.

A UF team led by neurologist S.H. Subramony, M.D., and scientist Manuela Corti, PT, Ph.D., is helping to build a comprehensive neuroimaging and biomarker database for Friedreich’s ataxia.

The Friedreich’s Ataxia Research Alliance, along with industry partners and academic medical centers including UF, has launched a study to track brain and spinal cord changes in people with Friedreich’s ataxia, a degenerative neuromuscular disorder that affects about 15,000 people worldwide, according to the alliance.

The new study, called TRACK-FA, is a collaboration among six international sites that will track 200 children and adults to improve understanding of the disease process. In addition to UF, the other sites are: Monash University in Australia; the University of Minnesota; Aachen University in Germany; University of Campinas in Brazil; and Children’s Hospital of Philadelphia.

The UF effort is being led by Corti, an assistant professor and director of translational research in the Child Health Research Institute in UF’s department of pediatrics.

“TRACK-FA is a vast natural history and biomarker study that will add sophisticated MRI measures and serum biomarkers to our knowledge bank,” said Subramony, a professor of neurology in the UF College of Medicine. “Many novel therapies including gene and protein replacements are on the way. The data from this study will critically inform trial designs.”

The imaging will be carried out by the Advanced Magnetic Resonance Imaging and Spectroscopy Facility in UF’s Evelyn F. and William L. McKnight Brain Institute in collaboration with Thomas Mareci, Ph.D., a professor of biochemistry and molecular biology.

Separately, the Facioscapulohumeral Muscular Dystrophy Society, or FSHD Society, is expanding the FSHD Clinical Trial Research Network, a consortium of academic research centers in the U.S. and Europe with expertise in FSHD clinical research and neuromuscular clinical trials. The FSHD Society has announced it has awarded $300,000 to expand the consortium with four new sites, including UF, to bring the total to 15. The other new sites are the University of Texas Southwestern Medical Center in Dallas, University of Colorado in Denver and Stanford University School of Medicine.

FSHD affects over 870,000 people worldwide, according to the FSHD Society.

“We expect a long-term commitment to this consortium and, since we understand a lot about the genetic cause, we expect novel and effective therapies on the horizon,” said Subramony, principal investigator for the UF clinical trial.