Rare Diseases

Not all companies will be able to access joint scientific consultations under the EU Health Technology Assessment Regulation, but success is still possible for those that engage with national agencies early on, says EUCOPE’s Alexander Natz.

Payers and health technology assessment bodies in the Netherlands, Germany and Italy are either unwilling to use real-world data in assessments or cannot due to their existing frameworks, say representatives from Gilead Sciences and Autolus Therapeutics.

Companies have until 17 March to respond to an EU consultation on a new strategy that will seek to simplify the regulatory framework and make it easier for innovative small and medium-sized enterprises to “access the capital they need” to scale up in the bloc.

Center for Biologics Evaluation and Research Director Peter Marks expects no fundamental changes in support for FDA initiatives and said the Rare Disease Innovation Hub, which promotes cross-center collaboration, is “consistent with what we're hearing in the current environment.”

Pharming has convinced NICE to reverse its rejection of its treatment for APDS by providing the health technology assessment institute with more data. It has also dropped the price it was asking for the drug, which has a list price of £352,000 per year per patient.

A new Innovative Health Initiative project will see the German health technology appraisal (HTA) body, IQWiG, work towards ensuring evidence generated in clinical studies meets the needs of HTA bodies and regulators.

Democrats are raising concerns that the continuing resolution intended to fund the government for the remainder of fiscal year 2025 gives Trump too much power, though it is unclear whether the FDA would be as impacted as other agencies.

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.

The European Medicines Agency has recommended in favor of approving four new products, and has also reaffirmed its positive opinion for the Alzheimer’s disease drug, Leqembi.

In the wake of cuts at the FDA, NIH and CMS, rare disease advocates are reminding Capitol Hill that some cuts can hinder progress, rather than eliminate waste.

The European Medicines Agency is looking for researchers to conduct scientific studies that address specific regulatory concerns, such as the development of innovative clinical trial designs or validation of novel manufacturing methods.

There has been “a lot of fear and anxiety” resulting from the Trump Administration’s early actions aimed at freezing grants and FDA communications, NORD’s Pamela Gavin says.

Pink Sheet editors discuss Center for Drug Evaluation and Research Director Patrizia Cavazzoni’s surprising retirement announcement, the importance of the large bolus of guidance documents that the FDA released 6 January, and the FDA’s decision to continue reviewing and granting rare pediatric disease designations even though the program lapsed.

Amid complaints about the challenges of following gene therapy patients for up to 15 years, OTP Director Nicole Verdun said the FDA is considering how to conduct long-term postmarket studies more efficiently.

The agency’s actions may signal its optimism about near-term reauthorization despite the PRV program and other bills aimed at tackling rare and childhood diseases not making the December 2024 government spending bill.

The FDA will stay open, but its rare disease priority review voucher program will wind down after not being renewed on 20 December. PBM reform and other industry priorities also were nixed at the last minute in an effort to avoid a government shutdown.

“Significant progress” has been made in setting up the UK’s Rare Therapies Launch Pad pilot scheme, which will construct a “new regulatory pathway tailored specifically for ultra-rare diseases,” a senior scientist involved in the project says.

EU legislators must be “mindful” that any changes made to the EU orphan medicines framework and its incentive structure will impact drugmakers and patients for the next two decades, says Soraya Bekkali, head of Europe, Canada, and international at Alexion.

A Catalyst fix, a pediatric rare disease voucher reauthorization that should prevent future workload imbalances for FDA, and a boost for out-of-state coverage in Medicaid are among Congress’s year end commitments to pediatric and rare disease patients that now seem in doubt.