Rare Diseases

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.

The landscape for primary biliary cholangitis or cirrhosis, PBC, is set to change if Intercept withdraws Ocaliva, which received its fourth safety alert from the US FDA and lost conditional marketing authorization in EU. Pink Sheet studies data from Citeline’s Pharmaprojects and separately Evaluate Pharma to reveal a promising clinical trials landscape and a sizeable market

Sponsors of 13 new products, including BridgeBio’s acoramidis, could soon learn whether or not the European Medicines Agency recommends their drugs for pan-EU marketing approval.

The incoming EU Health Technology Assessment Regulation will see historical data move “more center stage” for advanced therapies, because directly comparing highly individualized therapies is often unfeasible, an advanced therapies expert says.

The European Parliament proposed introducing joint procurement for orphan medicinal products in the EU pharma legislation overhaul – a move that the new CEO of EURORDIS says could lead to “faster and more equitable” access to drugs for rare diseases.

Greater transparency around EU health technology assessment processes “can only be a good thing” for innovative rare disease therapies, Virginie Bros-Facer, the new CEO of the EU network of rare disease patient organizations, EURORDIS, tells the Pink Sheet.

US FDA officials said dose optimization for rare diseases should not be sacrificed in the name of speeding access to medicines, but is the oncology approach spreading to rare diseases?

Stakeholders must work together to “identify the most promising products based on evidence” to treat childhood cancers, as drugs developed for adults do not always work, the scientific officer for the pediatric medicines office at the European Medicines Agency says.

New US FDA draft guidance attempts to address sponsor confusion about the different types of regulatory meetings under PDUFA, as well as frequently asked questions on nonclinical testing, CMC, pharm/tox and clinical studies.

In the second part of the Pink Sheet’s interview with the former senior FDA official, Woodcock says her push to create a rare disease drug approval pathway that wouldn’t require a randomized controlled trial will not return the agency to “an anecdote standard” or cause a downward creep in the evidentiary standard for approval.

The former CDER Director spoke to the Pink Sheet about why a new statutory standard is needed for certain rare disease drug approvals. We lay out some of her thinking in part one of a multi-part series on the topic.

Along with several new positive approval recommendations, Japan's proceeding to grant Sakigake designation to two drugs including a DMD gene therapy discovered through public collaboration. Meanwhile, the PMDA has opened a new full-time office in the US.

Former Food and Drug Law Institute CEO Amy Comstock Rick will take on patient engagement for the US FDA Rare Disease Hub as director of strategic coalitions.

US FDA’s Rare Disease Innovation Hub should shepherd the practical transformation of the diverse wealth of patient-generated data held by advocacy organizations into information for regulatory use, Reagan-Udall public meeting hears.