Treatments for Congenital Erythropoietic Porphyria
What's UP Doc? Is a regular column where we feature a patient question along with a response from a member of the UPA Scientific Advisory Board.
We keep hearing about new treatments for other types of porphyria, when will there be a treatment for CEP?
Today’s answer comes from Dr. Robert Desnick of Icahn School of Medicine at Mount Sinai in New York.
CEP is an ultra-rare erythropoietic porphyria and one of the most severe forms of porphyria. Exposure to sun can cause painful blisters that can become infected and lead to skin and bone loss.
Bone marrow transplants have been used to cure cases of CEP that are transfusion-dependent (where the patient requires a blood transfusion every 2-3 weeks). However, bone marrow transplants are not available to everyone with CEP as patients need a donor who is an excellent match, and only patients who are transfusion-dependent are candidates for transplantation.
Our colleagues in Spain have developed a treatment for CEP and this therapy has worked on a mouse CEP model. We are now planning an FDA-approved trial for this treatment and are recruiting adult patients. In this trial, all patients will receive the medication. It is an oral drug that is taken daily. Adults in the United States and Canada with CEP may be eligible to participate.
You can contact the United Porphyrias Association at info@porphyria.org or 1-800-868-1292 to learn more about the upcoming trial.
Thank you to Dr. Desnick for this What's UP Doc? answer! Do you have a question for a porphyria expert? Send it to info@porphyria.org.
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