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A novel treatment on the horizon for Plasminogen Deficient patients

rare diseases talk to doctor
rare diseases talk to doctor

Type 1 Plasminogen Deficiency (PD) causes inflamed growths on mucous membranes such as the eyes, nose and trachea. Until now, the only treatment has been excision.

The chances of suffering PD are 1.6 in a million

The chances of suffering PD are 1.6 in a million: both parents must be carriers, and their off spring have a 1:4 chance of developing the disease. Most cases (80 per cent) affect the eyes in the form of ligneous conjunctivitis, which is caused by Plasminogen Deficiency. End organ damage, such as blindness, may occur if patients are left untreated.

Dr Sarah Bein, a psychiatrist who has been a PD patient since she was a little girl is all too familiar with these distressing symptoms. Children can present as early as three weeks old with irritation, redness, and light sensitivity. The distinguishing feature of PD is the ligneous growths which have typically been managed or controlled by surgery. Some children might have relatively mild disease with only one or several ligneous growths, while others may have recurrent growths every 2-3 weeks, despite repeated surgical removal. PD is a multi-systemic disease with an unpredictable nature; manifestations may arise or be exacerbated from every day stressors or allergens.

The trauma of both the condition and the treatment are hard to exaggerate: “Chronic stress, anxiety, living with the unknown, are very difficult for patients,” says Bein, who has undergone repeated bronchoscopies. “The emotional landscape for anyone with chronic illness can be very hard.”

Significant progress has been made in research

However, an investigational therapy for Congenital Plasminogen Deficiency, developed by Prometic Life Sciences Inc., is scheduled for Food and Drug Administration (FDA) submission and review in 2017.

“Having access to an officially approved therapy for PD would be a positive step forward in the management of this condition. A purified, concentrated plasminogen solution, derived from human blood plasma, is delivered intravenously. “I experienced complete resolution of my lesions during my treatment in the clinical trial” says Bein, who participated in both the early phase one as well as the final phase two/three trial.

Using her condition as motivation to help others

Drawn to become a psychiatrist so as to help patients cope with the emotional impacts of chronic illness, Bein says that devoting herself to others has helped her with her own journey.

“You cannot let chronic be quite frightening to walk in the landscape of the un-known, it’s important to circumscribe the condition and define yourself in other ways.”

Bein goes on to explain that she has not suffered any symptoms of Plasminogen Deficiency since taking the medication routinely.

While she requires Plasminogen infusions weekly, Bein says side -effects, for her, have been negligible and she speaks of her tremendous gratitude for the coming therapy: “For a treatment for a rare disease to reach the intended patient community, so many things have to line up. It’s nothing short of a miracle. “

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