Todd Cade, PT, PhD, Shares Barth Syndrome Research on CBS17

Dr. Todd Cade, PT, PhD, FAPTA, professor of Orthopaedic Surgery and division chief of the Doctor of Physical Therapy program, was recently part of a team interviewed by Maggie Newland of CBS17 to discuss a new therapy for Barth syndrome. This rare genetic disorder affects heart and muscle function. With nearly 20 years of experience studying the condition, Dr. Cade shared his expertise on data from patients treated with the investigational drug elamipretide.

Currently, there are no FDA-approved treatments specifically for Barth syndrome, and conducting clinical trials is challenging due to the rarity of the disease and the limited number of eligible patients. Elamipretide is the first investigational drug used to treat Barth syndrome. Although the initial clinical trial did not achieve statistical significance because of the small sample size, Cade emphasized that patients who continued taking elamipretide after the trial, under expanded access, showed meaningful functional improvements compared to a natural history control group. The drug also demonstrated a strong safety profile.

“Expanded access has been used on many infants born with heart failure, and it has truly amazing results," Dr. Cade noted.

These findings add to a growing body of evidence supporting targeted therapies' potential to improve quality of life for individuals with ultra-rare conditions like Barth syndrome. They also emphasize the importance of regulatory considerations given the challenges of studying ultra-rare diseases.

Dr. Todd Cade, PT, PhD, FAPTA, professor of Orthopaedic Surgery and division chief of the Doctor of Physical Therapy program, was recently part of a team interviewed by Maggie Newland of CBS17 to discuss a new therapy for Barth syndrome. This rare genetic disorder affects heart and muscle function. With nearly 20 years of experience studying the condition, Dr. Cade shared his expertise on data from patients treated with the investigational drug elamipretide.

Currently, there are no FDA-approved treatments specifically for Barth syndrome, and conducting clinical trials is challenging due to the rarity of the disease and the limited number of eligible patients. Elamipretide is the first investigational drug used to treat Barth syndrome. Although the initial clinical trial did not achieve statistical significance because of the small sample size, Cade emphasized that patients who continued taking elamipretide after the trial, under expanded access, showed meaningful functional improvements compared to a natural history control group. The drug also demonstrated a strong safety profile.

“Expanded access has been used on many infants born with heart failure, and it has truly amazing results," Dr. Cade noted.

These findings add to a growing body of evidence supporting targeted therapies' potential to improve quality of life for individuals with ultra-rare conditions like Barth syndrome. They also emphasize the importance of regulatory considerations given the challenges of studying ultra-rare diseases.