Care for rare diseases is advancing, but challenges remain in the world’s largest universal public healthcare system By Márcia Dementshuk Edited by Bruno Fonseca Translated… Continue reading Pain and Hope: A Firsthand Account of Rare Disease Policy within the SUS He revealed that, faced with the need to know this population and unable to rely on SUS projections, he preferred to adopt the results of discussions raised by Orphanet, an international data platform: “Between 2.5% and 5% of the Brazilian population will suffer from a rare disease at some point in their lives.” These numbers represent, in reality, about 5 to 10 million Brazilians. This scale underpins the Orphanet slogan: “Rare diseases are rare, but patients with rare diseases are very numerous.” The Coordenação-Geral de Doenças Raras prepared a service structure with specialists qualified to monitor and evaluate the drug’s efficacy, a set of guiding documents, and closed a risk-sharing negotiation with the drug supplier for R$ 7 million, for which installments will be paid according to the results observed in patients over five years. The number of annual rare patient consultations jumped from 30,000 to 70,000, and the network of reference services more than doubled in two years of work, increasing from 16 to 37, present in 16 of the 26 states and the Distrito Federal. Management is focused on actions such as improvements in neonatal screening, aiming to detect rare disease conditions early in childhood. This personal experience serves as the starting point for an investigation into a paradoxical universe: a small number of people are grouped into thousands of types of rare diseases, resulting in millions of patients.

Original title: “Pain and Hope: A Firsthand Account of Rare Disease Policy within the SUS - Rare Disease Day 2026”

FDA delays treatments for rare diseases, risking lives of children with conditions like DMD and ALS. Trump signed the Right to Try Act in 2018, which allows those with life-threatening diseases or conditions to access experimental drugs that have completed at least Phase 1 clinical trials but have not yet received full FDA approval. There is bipartisan support to speed up this process; Sen. Kirsten Gillibrand (D-NY) sounded as concerned as the Republican members of the committee. ... Maybe U.S. Secretary of Health and Human Services Robert F. Kennedy Jr., who has pushed for faster drug approvals in areas like rare diseases, can apply some pressure. Campbell offered several solutions, and urged Congress to pass the Biomanufacturing Excellence Act of 2025 (H.R. 6089 and S. 3188), which will “advance manufacturing methods to ensure innovative products can move rapidly from clinical to commercial scale.” · Cara O’Neill, Chief Science Officer & Co-Founder of Cure Sanfilippo Foundation and the mother of a 16-year-old daughter with Sanfilippo Syndrome, told the committee how she watched a young girl die of the disease, which is a form of childhood dementia. However, her own daughter was able to receive treatment during a trial and is thriving. Angelina Olivera, the mother of a 14-year-old son who has DMD, who also watched her brothers die at ages 20 and 22 of the disease, told me there is only one promising new treatment for DMD but the FDA won’t approve it for her son Ryu. A study was conducted on 1,200 patients using Elevidys from Sarepta Therapeutics and revealed promising results. The gene therapy slowed disease progression by 70-73 percent compared to untreated children. Elevidys was approved for a few types of patients, but since a couple of patients in the trial treatment died of acute liver failure afterwards, the FDA halted access to those in wheelchairs like her son, who lost his ability to walk at age 9. Sarepta Therapeutics said those severe outcomes were not the result of the treatment. The two DMD patients who died were in advanced stages, and a third fatality occurred in a separate trial of a higher-dose gene therapy for a different muscle disease.

Original title: “FDA Cruelly Holding Up Approval of Treatments for Rare Diseases, Despite Children Likely to Die Soon”

The Department of Health and Human Services (HHS) provides notice of the laboratories and Instrumented Initial Testing Facilities (IITFs) currently certified to meet the standards of the Mandatory Guidelines for Federal Workplace Drug Testing Programs (Mandatory Guidelines) using Urine and the laboratories currently certified to meet the standards of the Mandatory Guidelines using Oral Fluid.

Original title: “Current List of HHS-Certified Laboratories and Instrumented Initial Testing Facilities Which Meet Minimum Standards To Engage in Urine and Oral Fluid Drug Testing for Federal Agencies”

Submitted in the Senate, considered, and agreed to without amendment and with a preamble by Unanimous Consent. (consideration: CR S716; text: CR S711)

Original title: “SRES 620: A resolution designating February 28, 2026, as "Rare Disease Day".”

Bipartisan Senate hearing targets FDA for inconsistent reviews and delays blocking rare disease therapies, as patients and advocates demand urgent action. Bipartisan Senate hearing targets FDA for inconsistent reviews and delays blocking rare disease therapies, as patients and advocates demand urgent action. "Time is the most precious commodity... rare disease patients cannot wait. - Senate Hearing" ... A bipartisan US Senate panel took aim at the Food and Drug Administration over delays and shifting standards that witnesses said are blocking rare disease treatments, warning that "time is the most precious commodity" for families and that "rare disease patients cannot wait." A bipartisan US Senate panel sharply criticized the Food and Drug Administration for delays and shifting standards that are blocking treatments for rare diseases. Witnesses testified that at least 23 rare disease therapies have been denied approval since early 2025, with advisory committee meetings declining by 65%. Patients and advocates warned that bureaucratic processes are costing precious time for families, with some facing the prospect of losing access to stabilizing treatments. India's pharmaceutical sector is growing strong. Maybe this is an opportunity for our regulators and companies to step up and become leaders in rare disease therapies? 💡 ... As someone with a cousin who has a rare genetic condition, I feel this deeply. The wait for treatment is agonizing. Calling a proposed new trial "another placebo controlled trial that will take 5 to 8 years," he said, "If this happens, patients on placebo will die." Bradley Campbell, chief executive of Amicus Therapeutics, said rare disease innovation must "adapt in speed, agility and flexibility."

Original title: “Senate Criticizes FDA Over Rare Disease Treatment Delays”

Became Public Law No: 119-44.

Original title: “HR 2483: SUPPORT for Patients and Communities Reauthorization Act of 2025”

In issuing a positive recommendation, the EMA has diverged from the FDA, which has set higher approval standards for Moderna’s vaccine in the U.S.

Original title: “Moderna’s combination flu, COVID shot wins over European drug regulators”

The CDC’s changes threaten to cut vaccine sales for makers including Pfizer, Moderna, Merck and more, but a legal expert suspects affected manufacturers will stay on the sidelines rather than back a push to declare the revised schedule unlawful.

Original title: “Uncertainty Looms Over Pharma’s Legal Strategy as States Challenge New Vaccine Schedule”

This week’s Capitol Hill meetings come on the heels of rejections of ultra-rare disease drugs developed by Biohaven and Saol Therapeutics. Physicians and patient groups implored the FDA to expedite these treatments.

Original title: “Rare Disease Groups Lobby for Regulatory Expediency as Makary Defends ‘Rigorous’ Approach”

FDA Commissioner Marty Makary presented a new idea to staff this week: bonus payments for employees that complete regulatory review processes faster than expected.

Original title: “FDA To Offer Bonus Payments for Speedy Drug Reviewers”

Without naming a specific product, Commissioner Marty Makary referred to an investigational therapy, delivered surgically into the brain, that the FDA was “pressured” to approve even after finding no clinical benefit to patients.

Original title: “Makary Defends FDA’s Decision-Making Amid Contentious Rare Disease Rejections”

Committee on Health, Education, Labor, and Pensions. Ordered to be reported with an amendment in the nature of a substitute favorably.

Original title: “S 3315: A bill to require the Secretary of Health and Human Services and the Director of the Cybersecurity and Infrastructure Security Agency to coordinate to improve cybersecurity in the health care and public health sectors, and for other purposes.”

<em>C. diff</em> guidelines and prevention resources for healthcare providers

Original title: “Healthcare Resources”

CDC’s National Healthcare Safety Network is the nation’s most widely used healthcare-associated infection tracking system.

Original title: “FAQs: Bloodstream Infection (BSI) Events”

The Food and Drug Administration (FDA) is announcing the issuance of a priority review voucher to the sponsor of a rare pediatric disease product application. The Federal Food, Drug, and Cosmetic Act (FD&C Act) authorizes FDA to award priority review vouchers to sponsors of approved rare pediatric disease product applications that meet certain criteria. FDA is required to publish notice of the award of the priority review voucher. FDA has determined that ZYCUBO (copper histidinate), approved Jan

Original title: “Issuance of Priority Review Voucher; Rare Pediatric Disease Product; ZYCUBO (Copper Histidinate)”

The Department of Health and Human Services, National Institutes of Health published a Notice in the Federal Register on February 20, 2025. That notice requires a correction in the SUMMARY section.

Original title: “Prospective Grant of an Exclusive Patent License: In Vivo Manufactured Anti-CD19 Chimeric Antigen Receptor (CAR) Products for the Treatment or Prevention of B Cell Mediated Autoimmune Diseases; Correction”

This notice announces the imposition of a 6-month nationwide moratorium on the Medicare enrollment of DMEPOS supplier medical supply companies.

Original title: “Medicare, Medicaid, and Children's Health Insurance Programs: Announcement of Nationwide Temporary Moratoria on Enrollment of Durable Medical Equipment, Prosthetics, Orthotics, and Supplies (DMEPOS) Supplier Medical Supply Companies”

The Food and Drug Administration (FDA, Agency, or we) is announcing the availability of additional draft and revised draft product-specific guidances. The draft guidances provide product-specific recommendations on, among other things, the design of bioequivalence (BE) studies to support abbreviated new drug applications (ANDAs). In the Federal Register of June 11, 2010, FDA announced the availability of a guidance for industry entitled "Bioequivalence Recommendations for Specific Products" that

Original title: “Product-Specific Guidances; Draft and Revised Draft Guidances for Industry; Availability”

The Food and Drug Administration (FDA or Agency) is providing interested persons with the opportunity to submit written comments concerning recommendations to impose international manufacturing and distributing restrictions on certain drug substances, under international drug control treaties. The comments received in response to this notice will be considered in preparing the United States' position on these proposals for a meeting of the United Nations Commission on Narcotic Drugs (CND) in Vie

Original title: “International Drug Scheduling; Convention on Psychotropic Substances; Single Convention on Narcotic Drugs; Scheduling Recommendations; N-Pyrrolidino Isotonitazene; N-Desethyl Etonitazene; Coca Leaf; MDMB-FUBINACA; Request for Comments”

This request for information (RFI) solicits stakeholder feedback on potential regulatory changes that might be included in a potential upcoming CRUSH proposed rule, as well as other programmatic changes that could be implemented to make CMS more effective in crushing fraud to protect taxpayer dollars and the Americans we serve.

Original title: “Request for Information (RFI) Related to Comprehensive Regulations To Uncover Suspicious Healthcare (CRUSH)”