respiratory onset amyotrophic lateral sclerosis in a patient with c9orf72 expansion

Original title: “Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion.”

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”

Rare Disease Day is held on the last day of February to raise awareness for rare diseases and address drug development challenges. This was spurred by activists who lobbied Congress to take action against the drought of therapies for several rare diseases like Huntington’s disease, amyotrophic lateral sclerosis (ALS), Tourette syndrome, and muscular dystrophy. Thus, the National Organization for Rare Disorders (NORD) was formed to unite patient advocacy groups and raise awareness of rare diseases. Much of this is owed to regulatory and manufacturing hurdles that drug developers face. As people who have rare diseases belong to small patient populations, traditional clinical trial designs are “poorly suited” for rare diseases, according to Matthew Wood, professor of Neuroscience at the University of Oxford. According to the BioIndustry Association: “Developing any drug is a long and expensive process, but for rare diseases, the situation is even more difficult. Smaller patient populations make research more challenging, and the opportunity to get a return on investment smaller.” Wood expressed that there exists a “translational gap” when it comes to research and development (R&D) in the rare disease space. “World-class science exists, but (there is) insufficient infrastructure to move discoveries into drug development. OHC was established to help close that gap,” said Wood. Despite the incentives that accompanied the Orphan Drug Act, many argue that they are insufficient to meet the urgent unmet needs of patients while driving high costs.

Original title: “Rare Disease Day: is a regulatory overhaul what the therapeutic field needs?”

In this episode of Denatured, you'll be listening to Indu Navar, CEO and founder of EverythingALS and Dr. Olga Uspenskaya, chief medical officer at VectorY Therapeutics. We'll be speaking about patient-pharma collaborations accelerating trials and hope, advances in ALS biology understanding and biomarker-driven endpoints.

Original title: “ALS Advances Unite Patients and Pharma on Novel Targets, Biomarker Breakthroughs”

The U.S. Congress greenlit a historic $315 million in federal ALS research funding for 2026 amid Rare Disease Month, spotlighting biotech progress like VectorY Therapeutics' first patient dosing in its TDP-43-targeting PIONEER-ALS trial and EverythingALS' pharma consortia driving biomarker innovations and trial alignment.

Original title: “Historic ALS Investment Signals New Treatment Momentum”

imaging derived neuromuscular ultrasound phenotypes are associated with functional status in amyotrophic lateral sclerosis

Original title: “Imaging-derived neuromuscular ultrasound phenotypes are associated with functional status in amyotrophic lateral sclerosis.”

btk inhibition suppresses neuroinflammation and neurodegeneration in amyotrophic lateral sclerosis

Original title: “BTK inhibition suppresses neuroinflammation and neurodegeneration in amyotrophic lateral sclerosis.”

gene targeted versus broad spectrum therapies in als comparative lessons and strategic outlook

Original title: “Gene-targeted versus broad-spectrum therapies in ALS: comparative lessons and strategic outlook.”

The Agency for Toxic Substances and Disease Registry (ATSDR), as part of its continuing effort to reduce public burden and maximize the utility of government information, invites the general public and other federal agencies the opportunity to comment on a continuing information collection, as required by the Paperwork Reduction Act of 1995. This notice invites comment on a proposed information collection project titled National Amyotrophic Lateral Sclerosis (ALS) Registry. The National ALS Regi

Original title: “Proposed Data Collection Submitted for Public Comment and Recommendations”

Original title: “Living Fearlessly After An ALS Diagnosis”

The Agency for Toxic Substances and Disease Registry's (ATSDR) National ALS Registry today released its second report on the prevalence of amyotrophic lateral sclerosis (ALS, commonly known as Lou Gehrig's disease) in the United States for the years 2012 and 2013.

Original title: “National ALS Registry Releases Updated Prevalence Estimates - Press Release”

About 4 in 100,000 people live with Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease in the United States, according to the first data summary released today by the Agency for Toxic Substances and Disease Registry.

Original title: “Agency for Toxic Substances and Disease Registry releases first set of data from National ALS Registry - Press Release”

In a groundbreaking step to learn more about Amyotrophic Lateral Sclerosis, also known as ALS or Lou Gehrig's disease, the federal Agency for Toxic Substances and Disease Registry (ATSDR) has launched the National ALS Registry.

Original title: “ATSDR Launches National ALS Registry”