Decades After Ferrari, Duchenne Treatments Remain Elusive

In the 1950s, between financial struggles and catastrophic car accidents, Enzo Ferrari lost his oldest child, Alfredo “Dino” Ferrari to Duchenne muscular dystrophy (DMD).

In the new biopic on Enzo Ferrari’s life — Ferrari — it’s clear his son’s death changed everything for Enzo. Unfortunately, decades later, children with DMD continue to share Dino’s tragic outcome.

Despite our best research efforts, we haven’t cured DMD. There have been promising treatments. Nothing has been successful yet.

But recent key advancements in technology give us hope. New tools mean we’re better able to understand how diseases work than before. Researchers at UVA Health Children’s are among the first in the world to apply these tools to DMD.

What Is Duchenne Muscular Dystrophy?

The most common type of muscular dystrophy, DMD mainly impacts boys. That’s because the trait is recessive and attached to the X chromosome. Symptoms of DMD usually start around age 2-4 years. By their early teens, most kids are unable to walk. People with DMD usually die from heart and breathing problems.

Dino’s death at the very young age of 24 is typical for Duchenne. That Dino was able to be active so much of his life is unusual. Dino struggled with his health from an early age. But the Ferraris didn’t know how serious his condition was until he became seriously ill in his early 20s. Until shortly before his death, Dino still worked on engines, talked about racing cars, and had a mind as quick as any Ferrari.

Driven To Find a Cure

Given the information and resources available in the 1950s, Dino actually fared well. How? Well, Enzo Ferrari’s notes shed some light on that. An engineer at heart, he tried to tune his son the way he would tune an engine. Detailed diary entries chart Dino’s health and vitals, with Ferrari’s attention to detail. At one point, Ferrari smuggled drugs into Italy hoping they would help his son.

Ultimately, it was an impossible battle. Dino’s death was devastating (as the death of a child always is for a parent). And Enzo Ferrari’s life can basically be divided at that moment. Wealth, talent, and intellect didn’t provide any insulation from grief.

Enzo’s tributes to his son live on. In Dino’s memory, Ferrari:

• Finished and produced the engine his son designed
• Created the Ferrari Dino, one of his most noteworthy vehicles
• Founded the Centro Dino Ferrari

The Centro Dino Ferrari has contributed to research on stem cell therapy for DMD and many other conditions, like Alzheimer’s. But a cure remains out of reach. Even today. Life expectancy has increased, but not significantly. Researchers at UVA Health Children’s are working to change that.

New Approaches to a Complex Problem

Seventy years later, we have new research opportunities for muscular dystrophy. At UVA Health Children’s, ongoing efforts to find relief for patients are funded by grants from:

• National Institutes of Health (NIH)
• Muscular Dystrophy Association
• Capricor
• Sarepta
• Coulter Foundation
• Fibrogen

“We are so grateful to have the opportunity to work as a multidisciplinary team in research for muscular dystrophy,” says Rebecca Scharf, MD, director of our pediatric neuromuscular clinic. “Our research program benefits from collaboration with biomedical engineering, computer and electrical engineering, research pharmacists, clinical research coordinators, and physical and occupational therapists.”

Two avenues of research are computational modeling and gene therapy.

Computational Modeling

Computational modeling brings together engineering and medical research. It’s a new way to break down how a complicated disease like DMD works. This approach could finally unlock the answers we need to find a cure.

This model can help researchers:

• Understand how muscle damage and inflammation drive the disease
• Understand the relationship between movement and inflammation
• Explain why treatments that may work in mice don’t work in people

The ultimate goal? New treatments that can work in humans.

Gene Therapy

Gene therapy has demonstrated potential. For children with spinal muscular atrophy, we’re already using gene therapy at UVA Health Children’s.

Harmless viruses are genetically altered to deliver a gene. This gene produces dystrophin, a protein that people with DMD don’t have. Having the protein should at least slow the disease’s progression.

One Step at a Time

Every research endeavor brings us one step closer to understanding potential treatments. More investment in projects like the Paul and Diane Manning Institute of Biotechnology means more opportunities to develop treatment for even the most challenging conditions. And hopefully will secure a brighter future for children like Dino Ferrari.