BioBlast Pharma Ltd., a biotechnology company focused on rare genetic diseases, recently announced the start of a Phase 3 pivotal trial (NCT02328482) in the United States and Canada for its product Cabaletta (trehalose) for oculopharyngeal muscular dystrophy (OPMD).
OPMD is a rare inherited neuromuscular disease characterized by muscle weakness in several parts of the body including the face and proximal upper and lower limbs, difficulty in swallowing (dysphagia), tongue atrophy, ptosis (drooping of eyelids) and dysphonia (altered and weak voice). With disease progression, dysphagia becomes more severe leading to a significant weight loss, dehydration, malnutrition and repeated events of aspiration pneumonia. The disorder is caused by mutations in the PABPN1 gene resulting in PABPN1 protein clumps within muscle cells; these clumps are thought to impair the normal muscle cell functioning, eventually causing cell death. Currently there is no treatment for the condition.
The HOPEMD study is an ongoing Phase 2 trial (NCT02015481) to assess the safety, tolerability and efficacy of Cabaletta in OPMD patients. An interim analysis of the study revealed encouraging results. “We see positive signals in a consequential number of the 25 treated patients currently enrolled in our open label HOPEMD study, with respect to various muscle and other performance tests. These positive signals lead us to believe that the clinical study duration required to demonstrate efficacy may be considerably shorter than we initially predicted.” said BioBlast’s President and CEO Colin Foster in a news release. “Based upon various in vivo and cellular models of disease, we had initially expected to slow the deterioration of the disease over a period of 18 months in the HOPEMD study. Instead, we have seen evidence of improvement in a number of the functional measures within approximately the first six months.”
The research team found that OPMD patients treated with Cabaletta experienced a significant clinical improvement as assessed by muscle group strength tests, functional muscle tests and patient reported outcome measures. Based on these promising results, BioBlast has decided to start a Phase 3 trial for a period of one year to assess the long-term effects of Cabaletta on disease progression.
“As a result, we have made the decision to initiate a 12 month, placebo-controlled, multi-center Phase 3 study in the next quarter that will begin enrolling approximately 60 OPMD patients in the USA and Canada into this new trial. We have stopped enrollment in the HOPEMD trial at twenty-five patients — we had originally intended to enroll 70 patients. New OPMD patients will now be enrolled in the Phase 3 pivotal study. We anticipate that this Phase 3 study will be completed by the end of 2016, and because of its shorter duration, will provide results at the same time as the HOPEMD study.” explained Foster.
The company believes that the Phase 3 trial will accelerate their OPMD program towards a regulatory filing.
If you are interested in enrolling on the trial or to obtain more information please visit the link.