Rare Disease Report

Erdheim-Chester Disease Treatment Gets FDA Priority Review and Breakthrough Therapy Designation

AUGUST 06, 2017
Mathew Shanley
The U.S. Food and Drug Administration (FDA) has accepted Genentech’s supplemental New Drug Application (sNDA) and granted Priority Review for Zelboraf (vemurafenib), a therapy for patients with Erdheim-Chester disease (ECD) with a BRAF V600 mutation.
The sNDA contains data from an open-label, Phase 2 VE-BASKET study, in which the use of Zelboraf for people with BRAF V600 mutation-positive cancers and other diseases, including ECD, was investigated. Initial results of the study were published in the New England Journal of Medicine in August 2015.
ECD is a rare non-Langerhans cell histiocytosis, meaning it is characterized by the absence of Langerhans cells, or antigen-presenting immune cells of the skin and mucosa, and the abnormal multiplication of histiocytes, a specific type of white blood cells. Typical symptoms include moderate, lingering bone pain in the lower limbs, and failure of the liver and kidneys.
There are fewer than 500 reported cases of ECD in the United States, however, more than 50% of people with the condition are BRAF V600 mutation-positive. Zelboraf, a prescription medicine used to treat melanoma, is designed to inhibit mutated forms of BRAF.
“This first potential treatment submitted to the FDA for this rare disease was identified by an innovative trial studying Zelboraf across different diseases with the same genetic mutation,” said Sandra Horning, M.D., chief medical officer and head of Global Product Development in a press release. “We are committed to bringing new treatment options to people with rare diseases and hope to see Zelboraf approved for Erdheim-Chester disease as soon as possible.”
The VE-BASKET Study data in the sNDA was from a Phase 2, non-randomized, basket study in which 22 people with ECD treated with Zelboraf showed a best overall response rate of 54.5%. Following a median follow-up time of 26.6 months, duration of response, progression-free survival and overall survival were not concluded in the study.
The most common Grade 3 or higher adverse events (AE) were skin cancers, high blood pressure, rash and joint pain.
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