RARE Daily

FDA Approves First Treatment for Patients with Plasminogen Deficiency, a Rare Genetic Disorder

June 7, 2021

The U.S. Food and Drug Administration approved Liminal Biosciences’ Ryplazim for the treatment of patients with plasminogen deficiency type 1, also referred to as hypoplasminogenemia, a disorder that can impair normal tissue and organ function and may lead to blindness.

Individuals with this disease lack a protein called plasminogen, which is responsible for the ability of the body to break down fibrin clots. Plasminogen deficiency leads to an accumulation of fibrin, causing the development of growths (lesions) that can impair normal tissue and organ function and may lead to blindness when these lesions affect the eyes.

“Until now, there were no FDA-approved treatment options for patients with plasminogen deficiency type 1,” said Peter Marks, director of FDA’s Center for Biologics Evaluation and Research. “Today’s approval helps address an unmet medical need for individuals affected by this rare genetic disease.”

The active ingredient in Ryplazim is plasminogen, purified from human plasma. Treatment with Ryplazim helps to increase the plasma level of plasminogen – enabling a temporary correction of the plasminogen deficiency and reduction or resolution of the lesions.

The effectiveness and safety of Ryplazim is primarily based on one single-arm, open-label (unblinded) clinical trial enrolling 15 adult and pediatric patients with plasminogen deficiency type 1. All patients received Ryplazim administered every two to four days for 48 weeks. The effectiveness of Ryplazim was demonstrated by at least 50 percent improvement of their lesions in all 11 patients who had lesions at baseline, and absence of recurrent or new lesions in any of the 15 patients through the 48 weeks of treatment.

The most common side effects reported by patients who received Ryplazim were abdominal pain, bloating, nausea, bleeding, limb pain, fatigue, constipation, dry mouth, headache, dizziness, joint pain, and back pain.

The FDA granted Ryplazim Orphan Drug designation, which provides incentives to assist and encourage drug development for rare diseases. The application also received Fast Track designation, Priority Review, and a Rare Pediatric Disease Priority Review Voucher. The FDA’s rare pediatric disease priority review voucher program is intended to encourage development of new drugs and biologics to prevent and/or treat rare diseases in children.

Patients with plasminogen deficiency type 1 may bleed from active disease-related lesions. The use of Ryplazim may prolong or worsen active bleeding. Tissue sloughing (peeling/shedding) has also been observed. Because Ryplazim is derived from human plasma, it carries a risk of transmitting infectious agents. Based on effective donor screening procedures and product manufacturing processes, the risk of infectious disease transmission is remote.

Author: Rare Daily Staff

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