Rare Diseases

At the advisory committee review of Stealth’s Barth syndrome treatment elamipretide, Office of New Drugs Director Peter Stein clarified the circumstances where clinical data in a related indication could serve as confirmatory evidence for a single adequate and well-controlled study.

Meeting the regulatory gold standard for drug candidates in ultra-rare diseases can be impractical, a regulatory expert says, but greater collaboration and shared insights from regulatory reviews could help find a viable path forward.

Members of the Cardiovascular and Renal Drugs Advisory Committee repeatedly challenged Stealth’s assertion that a new randomized trial in Barth syndrome was not possible, but also said potential functional unblinding and other challenges could compromise a new study.

The Cardiovascular and Renal Drugs Advisory Committee voted 10-6 that efficacy had been shown for the ultra-rare disease, but even panelists in the majority questioned whether the product satisfied the threshold requirement for an adequate and well-controlled study.

The head of the US FDA’s drug center suggests that economic factors, including the Inflation Reduction Act, are potentially more important pathways shaping the focus of research and development than regulatory flexibility.

A US National Academy of Sciences, Engineering and Medicine panel is considering whether biomedical innovation is aligned with public health needs. The resulting report could impact FDA and federal policy on rare disease and research and development incentives.

Nipocalimab is an investigational FcRn blocker for treating generalized myasthenia gravis that was also recently filed for regulatory review in the US.

The Cardiovascular and Renal Drugs Advisory Committee will consider whether open-label extension data from a randomized trial that failed its primary endpoint, along with a historical control comparison, are enough to support approval in the ultra-rare disease.

The number of standard and priority reviews also decreased significantly in FY 2023 compared to the previous year, which caused the fee for redeeming a voucher to rise.

US and EU regulators have invited two companies to work with them on a pilot scheme for assessing drugs for rare genetic diseases, a move that the European Medicines Agency’s Emer Cooke said would help improve “global alignment.”

The US FDA commissioner also said the hub is looking for an executive director who will work with the CBER and CDER heads, who will serve as co-leads. 

An FDA question to a patient concerned about the negative impacts of the CAR-T boxed label warning during a recent listening session indicates the agency may be thinking about improving its dissemination of the information. 

High unmet needs is among the terms and definitions in the EU’s regulatory reform package that are “very subjective” and require more clarity to improve predictability for the pharmaceutical industry, EUCOPE’s secretary general, Alexander Natz, tells the Pink Sheet.

New guidance from the European Commission on clinical trial validity for forthcoming joint clinical assessments has eased some concerns about the generation of evidence for rare disease treatments and advanced therapies.

Joint clinical assessment reports must be descriptive rather than reach definitive conclusions, and must not interfere with national decision making processes, according to new EU guidance.

The European Medicines Agency has recommended the pan-EU approval of three rare disease drugs: Pfizer’s Hympavzi, Henlius Biotech’s Hetronify and ImmunoGen’s Elahere in addition to five other new medicines.

As amended, the Give Kids A Chance Act would renew the rare pediatric disease voucher program for five years and give the FDA new authority to bring enforcement action when pediatric studies are overdue. However, it would not remove the exemption from pediatric study requirements for non-cancer orphan drugs, which Democrats had sought. 

Rare disease activities within the biologics center will gain more prominence with a senior official overseeing them.

Obeticholic acid has not confirmed clinical benefit and the benefit-risk profile is not favorable in primary biliary cholangitis, the FDA advisory committee said. The agency must now decide whether to keep Ocaliva on the market with new study requirements or seek withdrawal.

A real-world evidence study also does not meet the regulatory standard for an adequate and well-controlled clinical investigation, the agency said. The FDA should allow the accelerated approval drug to remain available like other treatments that failed their confirmatory trials, Intercept said.