Oxford Scientist Awarded Grant for Study on Spinal and Bulbar Muscular Atrophy

A $123,933 grant will boost the efforts of University of Oxford scientist Carlo Rinaldi, MD, PhD, to advance understanding of spinal and bulbar muscular dystrophy (SBMA) in the hopes that it will eventually lead to a treatment.

The three-year grant is being co-funded by the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) Foundation and the Muscular Dystrophy Association (MDA).

Specifically, Rinaldi plans to test his hypothesis that a certain androgen receptor (AR) — isoform 2, or AR45 — is a chief regulator of all androgen receptor activity.

Activating androgen receptors with selective androgen receptor modulators (SARMs) is a potential approach to increase muscle size. These are tissue-specific compounds that stimulate muscle growth and improve muscle function. Many SARMs have been developed for diseases associated with muscle wasting; however, their potential in SMA still needs to be clarified.

The outcome of Rinaldi’s research could promote the discovery and development of therapies for SBMA, for which there is currently no available treatment.

“This research work has the potential to shed new light on the role of the AR isoforms in both health and disease, advance understanding of the mechanisms of pathogenesis in SBMA, and provide a new therapeutic target in close relationship with the disease-causing mutation,” said Rinaldi, an associate professor in the department of physiology, anatomy and genetics at the University of Oxford in the U.K. 

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Carlo Rinaldi (Photo courtesy of AANEM)

Also called Kennedy’s disease, SBMA is a neuromuscular disorder characterized by the degeneration of lower motor neurons and primary muscle atrophy.  Rinaldi’s project is titled, “Androgen Receptor Isoforms: From SBMA Pathogenesis to Therapeutic Targets.”

“Dr. Rinaldi has the strong support of the neuroscience community in Oxford to pursue his research into the mechanisms of motor neuron degeneration in SBMA,” said Kevin Talbot, head of the division of clinical neurology at John Radcliffe Hospital at Oxford. “This is a neglected area and he is in an excellent position to be a leader in this field, both within Europe and worldwide.”

Rinaldi began his research efforts in conjunction with the grant in August. He will present his findings at the AANEM annual meeting in Aurora, Colorado, in October 2021, for which he also received a $1,500 travel grant.

“This grant represents an incredible opportunity for me to build up an academic career as an independent investigator and develop my research program to its full potential,” Rinaldi said.

“We are excited to see the developments of Dr. Rinaldi’s research, and believe this important work can make a difference for those living with SBMA,” said Shirlyn A. Adkins, the AANEM Foundation’s executive director.

The partnership between the AANEM Foundation and MDA offers opportunities for neuromuscular research. Projects submitted to MDA may be considered by the AANEM Foundation for co-funding. Information is available here.