Program provides early access to experimental EPP treatment
Expanded access program for bitopertin open to patients 12 and older
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The experimental drug bitopertin is now available through an expanded access program for eligible patients aged 12 and older with erythropoietic protoporphyria (EPP), allowing them to receive the oral treatment while it continues to be tested in late-stage clinical studies.
“Recognizing the urgent need for new treatment options for patients and families affected by EPP, we are proud to launch this bitopertin expanded access program,” John Quisel, PhD, CEO and president of Disc Medicine, the company developing bitopertin, said in a company press release.
Bitopertin is being tested against a placebo in an ongoing Phase 3 clinical study, APOLLO (NCT06910358), involving 183 adults and adolescents with EPP or X-linked protoporphyria, another type of porphyria.
Data are expected in the fourth quarter of 2026. After receiving those results, the company plans to seek approval from the U.S. Food and Drug Administration (FDA), which earlier this year rejected an application for accelerated approval of bitopertin to treat EPP. The agency indicated that positive data from APOLLO would support traditional approval.
“As we work to complete the Phase 3 APOLLO study, we believe providing earlier access where appropriate is an important step in supporting the EPP community,” Quisel said. “We look forward to continuing to advance the development of bitopertin, with a potential FDA decision expected by mid-2027.”
Protein blocker aims to reduce protoporhyrin buildup, ease symptoms
EPP and XLP are genetic diseases that affect the body’s production of heme, an iron-containing molecule that is part of hemoglobin, the protein in red blood cells that carries oxygen. Both EPP and XLP cause a buildup of a chemical called protoporphyrin, which can make the skin extremely sensitive to sunlight and cause severe pain after exposure to light, among other symptoms.
Bitopertin is designed to block glycine transporter 1, a protein that helps developing red blood cells take up glycine, an amino acid the body uses to make heme. By reducing the amount of glycine available, bitopertin is expected to slow heme production and reduce the buildup of protoporphyrin, easing symptoms of porphyria.
Data from two completed Phase 2 clinical studies, the open-label BEACON (ACTRN12622000799752) and the placebo-controlled AURORA (NCT05308472), showed that daily treatment with bitopertin significantly reduced levels of circulating protoporphyrin IX (PPIX), with sustained reductions over the long term observed in an extension study, HELIOS (NCT05883748).
In APOLLO, patients were randomly assigned to receive either bitopertin or a placebo once daily for 24 weeks, or about six months. The goal is to monitor changes in total time spent in sunlight on days without pain. Researchers will also measure PPIX levels in blood and monitor side effects over the 24 weeks.
In the meantime, eligible patients with limited treatment options may enroll in the expanded access program (NCT07603401). Expanded access, also called compassionate use, is a pathway that allows patients with serious diseases who meet specific requirements to receive an experimental treatment outside of a clinical study.
