The U.S. Food and Drug Administration recently approved a drug for the treatment of patients with an ultra-rare bleeding disorder. Ryplazim was developed by Canada-based Liminal Biosciences Inc. and is used to treat Plasminogen Deficiency, a disorder that can impair normal tissue and organ function and possibly lead to blindness. However, the road to FDA approval came through the Hoosier State as much of the study of the drug was performed by researchers at the Indiana Hemophilia and Thrombosis Center in Indianapolis.
Dr. Amy Shapiro, medical director of the IHTC, tells Inside INdiana Business the treatment, which is the first of its kind, has been a long time in the making.
“I met my first patient with Plasminogen Deficiency over 20 years ago and since that time, have tried very hard to help companies develop therapeutics to treat this because before Ryplazim was licensed, there was nothing that was licensed by the FDA that is specific to treat this disorder,” said Shapiro. “So, [there was] a very underserved group of patients that suffered because of lack of a good therapy to get treatment.”
Plasminogen is a protein naturally produced in the body that helps break down blood clots. Plasminogen Deficiency affects about 1 in 1 million people, though doctors believe the disorder to be “severely undiagnosed,” according to the IHTC.
Shapiro says the disorder can manifest in a variety of ways at different points in a person’s life, including the development of woody lesions on the surface of the mucus membranes of the body such as the eyes, nose, mouth, and even the respiratory tract or central nervous system.
“Some people who have these lesions can lose vision, can lose hearing because it can affect their ears. They can lose teeth because of persistent lesions in their gums,” she said. “They can have life-threatening problems because of lesions in their respiratory tract that block their airways or in the central nervous system that block the flow of cerebral spinal fluid.”
Shapiro says the IHTC worked with Liminal and performed all of the clinical trials in North America, the results of which were submitted to the FDA. She says the trials involved patients from across the United States and Canada, as well as the United Kingdom.
The trials found that Ryplazim significantly reduced or eliminated severe symptoms of the disease.
“We worked really hard to bring this to fruition. We’re happy for the patients,” said Shapiro. “It is a very effective therapy for this treatment of this disorder. We’re very invested in rare disorders and helping to advance research and treatment and to provide the best clinical care.”
Although the FDA has approved Ryplazim, Shapiro says there is still more work to be done with regard to Plasminogen Deficiency.
“There’s a lot we don’t understand about this disorder. We don’t understand why some patients are symptomatic at different times of life, compared to not being symptomatic. We don’t understand the specific triggers for the disorder and we don’t have well-defined what we would call severity categories that help us create good treatment algorithms for best care for patients. So, now that we have a very efficacious therapeutic product, we need to learn to use it the most effectively for individuals who have this disorder.”
Shapiro says the IHTC is working with national agencies, including the National Hemophilia Foundation, the recently-formed Plasminogen Deficiency Foundation, and the American Thrombosis and Hemostasis Network, to further research and understand the disorder.
Shapiro says the treatment, which is the first of its kind, has been a long time in the making.
Shapiro says there is still more work to be done with regard to Plasminogen Deficiency.