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#罕见病

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Oct 14Wed
  1. biospace.com48

    Alnylam bulls and bears fight it out after business-shaking guidance cut

    Alnylam cut full-year guidance by about $200 million after second-quarter sales of the TTR silencer Amvuttra in transthyretin-mediated amyloidosis fell short, and its stock has dropped from near $500 to around $250. Analysts at Guggenheim question whether the ATTR-CM opportunity is smaller than expected or whether stabilizers from Pfizer and BridgeBio are becoming preferred, while TD Cowen reiterated a $482 target and BMO argues the cut reflects second-line patient exhaustion. Alnylam is running Phase 3 trials of nucresiran in ATTR-CM and ATTR-PN, and a Phase 3 cardiovascular outcomes trial of zilebesiran in hypertension.

  2. jamanetwork.com40

    Arginine Treatment and Sickle Cell Disease Pain—A Great STArT, but a Hard End Point

    JAMA commentary discusses arginine as a candidate targeted treatment for sickle cell disease pain crises, which drive more than 70,000 pediatric emergency department visits annually in the US. Current care still relies on intravenous opioids, NSAIDs and fluids, with nearly 30% of discharged patients returning within days and similar readmission rates within 30 days. The piece frames the STArT trial as a starting point toward a treatment addressing vaso-occlusion.

  3. jamanetwork.com73

    From Biological Insight to a New Class of Medicines for Hemophilia A

    The 2026 Lasker-DeBakey Clinical Medical Research Award recognizes researchers who developed a bispecific antibody mimicking blood coagulation factor VIII. The antibody offers a new class of medicines for hemophilia A, a life-threatening bleeding disorder caused by lack of factor VIII. The winners describe how biological insight drove the drug's development.

    Why it matters: Lasker award spotlights a bispecific antibody that created a new treatment class for hemophilia A.

  4. jamanetwork.com77

    The 2026 Albert Lasker Basic Medical Research Award

    Emmanuel Mignot and Masashi Yanagisawa, winners of the 2026 Albert Lasker Basic Medical Research Award, identified the brain peptide orexin and established its role in sleep regulation. Their work linked orexin deficiency to narcolepsy. The Perspective traces how the discovery advanced understanding of the sleep disorder.

    Why it matters: Lasker Award honors the discovery of orexin and its link to narcolepsy.

Oct 10Sat
  1. thelancet.com71

    [Lecture] 50 years of Ebola research and response

    Peter Piot and Jean-Jacques Muyembe-Tamfum delivered the two Virchow Prize Lectures in October 2026, covering 50 years of Ebola research and response. The lectures, published by The Lancet, trace the history of work on the disease. No further events are scheduled in the material.

    Why it matters: Two leading Ebola researchers reflect on five decades of research and response.

Oct 9Fri
  1. thelancet.com52

    [Comment] Deucrictibant: a novel oral on-demand treatment for hereditary angioedema

    A comment in The Lancet discusses deucrictibant, a novel oral on-demand treatment for hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH). The condition causes recurrent, unpredictable angioedema attacks that untreated can last 3–5 days and carry considerable morbidity and mortality, and the swelling does not respond to antihistamines, corticosteroids, or epinephrine. The piece examines an oral on-demand option for this setting.

  2. biospace.com59

    Reusing data could cut R&D costs and greatly increase gene editing’s reach: ARM

    The Alliance for Regenerative Medicine (ARM) has published a playbook, building on FDA draft guidance from this summer, showing how gene-editing developers can reuse toxicity, manufacturing and other data across a platform to cut redundant studies and costs. Beam Therapeutics, which helped create the playbook, designs Phase 1 trials as registrational and aims to move from first-in-human studies to FDA approval in four to five years, versus eight to 10 traditionally. ARM also calls for a bifurcated regulatory framework allowing higher-risk, streamlined development for severe rare diseases with no standard of care, while William Blair analysts say more clarity on the plausible mechanism pathway is needed.

Oct 8Thu
  1. statnews.com43

    A mother-daughter quest to find fellow members of an ultra-rare genetic community

    A journalist and her nearly 17-year-old daughter Maya, who has Nicolaides-Baraitser syndrome, are tracing the condition and its global community of 337 known patients. The syndrome, first described in a 1993 paper by Paola Nicolaides and Michael Baraitser, has no cure, no medicines and no known disease progression. Their investigation has taken them to Cyprus, England and the United States to meet patients, families and the doctors involved.

  2. Nat Biotechnol66

    Regeneron approval brings relief for 'second skeleton' bone disorder.

    Regeneron has received approval for a treatment for the 'second skeleton' bone disorder, a condition in which bone forms progressively in soft tissue. The approval marks the first regulatory decision for this indication for the company. No dosing, pricing or trial details were disclosed.

    Why it matters: First approval for a Regeneron therapy in a rare progressive bone disorder.

Aug 21Fri
  1. biocentury.com56

    Mapping first steps toward scaling genetic medicines: C-Path’s Romero on the BioCentury Show

    The Critical Path Institute's One to Millions Initiative is building a development framework for individualized rare disease therapies, starting with antisense oligonucleotides, and aims to extend it to all genetically defined diseases, including mutation-segmented subtypes of Parkinson's disease. CEO and CSO Klaus Romero said the bottleneck is the absence of a standardized regulatory and development system, and the initiative's first deliverables include a shared safety database meant to reduce repeated preclinical studies. The effort implements FDA's Plausible Mechanism Framework through consortia of companies, academics, patient groups and regulators sharing data.

CBACBA Frontier Insights (CFI)Chinese Biopharmaceutical Association (CBA)www.cba-usa.org