Rare Diseases

Sponsors of three drugs that are in the final stages of the EU regulatory review cycle are due to make the case for marketing approval before the European Medicines Agency.

Regenxbio is riding a wave these days, with all three of its clinical-stage programs set to reach critical milestones this year and recent positive news on its DMD gene therapy, just as Sarepta suffered a setback with a death related to its DMD treatment. In Vivo spoke with CEO Curran Simpson about the company’s plans and strategic decisions.

From a $7m discarded asset to a $336m commercial portfolio, In Vivo looks inside Mirum Pharma’s disciplined strategy for identifying, acquiring and revitalizing overlooked rare disease programs while building toward billion-dollar potential.

Canada’s new guidance on rare disease registries is based on international guidelines, but in some areas there remains work to ensure that implementation of some recommendations is feasible in the Canadian context.

The EU, US and other countries with similar health care systems must “take responsibility” for the financial and health risks involved in getting innovative drugs, such as gene therapies, to market, says an academic expert who has worked in the advanced therapy field.

Pfizer cited many reasons for ending sales of hemophilia B gene therapy Beqvez, including a lack of patient and doctor interest. The company no longer plans to develop AAV gene therapies.

Nonprofits are finding new ways to address market gaps and develop treatments for rare diseases with little commercial attraction.

Sales of spinal muscular atrophy drug Spinraza had an unexpected US boost in Q4 and Biogen may win US FDA approval for a high dose version this year, but Roche’s Evrysdi was just approved in a new tablet formulation.

HAS, the French health technology assessment body, has issued positive recommendations for several orphan drugs, including for Vyloy, which was provisionally rejected for reimbursement in the UK last year.

A Zydus-Takeda joint venture is expected to supply more raw materials to the Japanese major. Meanwhile, a tie-up with CVS Caremark for the sitagliptin franchise is a boost for Zydus’s US sales while the company focuses R&D efforts on rare diseases like ALS and CAPS