Breakthrough treatments change advocates' approach to rare disease

What happens when a rare disease gets … well, not cured, but dramatically altered by a powerful therapy? That's the question now being confronted by advocates for spinal muscular atrophy, a degenerative disease whose course is being redefined by three powerful drugs that have been approved since 2016. The seven-pound wheelchairs once needed by the young children with SMA are now gathering dust.

But families of children with SMA say there are still symptoms to contend with — from the disease itself, or even from the drugs used to treat it. "And even though they're gaining abilities, and they're getting stronger, and they're doing better than the expected diagnosis, their bodies are still very much affected," said Kelly Eakin, the mother of two boys with the disease.

Regulation

FDA ad comm to review controversial ALS therapy

The FDA is asking a committee of independent advisers to review NurOwn, an experimental cell therapy for ALS, that it had previously rebuffed. Last November, the agency shot down a marketing application for the treatment, which is made by BrainStorm Cell Therapeutics. But the FDA has lately shown increasing leniency — having recently promised to allow the "broadest regulatory flexibility" to approve medicines for fatal diseases like ALS that desperately need new treatments.

NurOwn is made of reengineered stem cells that have been harvested from a patient's bone marrow. A Phase 3 clinical trial testing the treatment was negative, and the company has since been struggling financially. But BrainStorm protested the FDA's rejection, and an ALS advocacy group gathered 30,000 signatures in a petition directed at CBER chief Peter Marks. A date for the ad comm hasn't been set yet, and an FDA spokesperson declined to comment.

cancer drugs

FDA proposes RCTs for accelerated cancer approvals

The FDA has tasked cancer drugmakers to conduct more rigorous trials if they want accelerated approval, Reuters writes.

The accelerated approval pathway attracted significant criticism after the agency approved Biogen's controversial Alzheimer's treatment, Aduhelm. So now, the FDA is proposing that companies conduct randomized controlled trials if they want accelerated approval — as opposed to the single-arm studies that have passed muster for many cancer drugs up until this point.

The regulator offered two options — either conducting one RCT before accelerated approval, and then another confirmatory trial, or just holding a single, longer trial and then conducting a follow-up much later on.

drug approvals

FDA approves immunodeficiency drug from Pharming Group

The FDA has approved leniolisib, an oral drug for a rare immunodeficiency disease. The medicine, developed by the Pharming Group and Novartis, will be marketed as Joenja starting next month. It treats activated phosphoinositide 3-kinase delta syndrome, or APDS, a genetic condition that affects how immune cells develop and function. It's often misdiagnosed and confused with lymphoma, Endpoints writes.

A small study showed that leniolisib reduced lymph node size and increased naive B cells. The European Medicines Agency is also reviewing the drug, with a decision expected in the second half of this year.

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