Rare Disease

BioMarin Pharmaceutical said it is progressing with the integration of Amicus Therapeutics and expects $200 million in annual non-GAAP cost savings, with most synergies realized in 2027 and full realization in 2028. Speaking at Morgan Stanley's Global Healthcare Conference, President and CEO Alexander Hardy said Amicus had about 505 employees and BioMarin expects to retain approximately 192 over the long term, with about 70% of the savings coming from general and administrative expenses and the remainder from duplicated research and development functions. Chief Financial Officer Brian Mueller said the deal should be accretive in its first year, with substantial accretion beginning next year, and that leverage is now expected to fall below 2.5 times by the middle of 2027, nearly a year earlier than the initial target. Hardy said VOXZOGO delivered 20% quarterly patient growth despite U.S. competition and is expected to reach $1 billion in revenue this year, which would make it BioMarin's first blockbuster product, while a potential FDA approval in hypochondroplasia is not incorporated into its 2026 outlook. BioMarin projects peak sales of approximately $1.4 billion for GALAFOLD and $1.2 billion for POMBILITI + OPFOLDA by the mid-2030s, and said PALYNZIQ grew 27% to $135 million while VIMIZIM has the potential to exceed $1 billion in revenue.

AstraZeneca said the FDA accepted its regulatory filing for the investigational enzyme replacement therapy efzimfotase alfa in patients aged two years and older with hypophosphatasia, or HPP, and granted the application priority review, shortening the review period by four months, with a final decision expected during the first half of 2027. The filing is supported by data from three phase III studies: MULBERRY met its primary endpoint in treatment-naive children aged two to less than 12 years old, showing a significant improvement in bone health, and CHESTNUT showed that patients switching from Strensiq could maintain the benefits of treatment, while HICKORY did not meet its primary endpoint in treatment-naive individuals aged 12 years and older, though AstraZeneca reported a numerical improvement, particularly in patients with pediatric-onset disease. The company said efzimfotase alfa was generally well-tolerated with an acceptable safety profile across the three studies. The commercial angle rests on Strensiq, the established HPP treatment AstraZeneca gained through its 2021 acquisition of Alexion, which was approved by the FDA in 2015 as the first bone-targeted enzyme replacement therapy for HPP and generated $1.05 billion in sales in the first half of 2026, up 41% year over year. Efzimfotase alfa is designed to require lower injection volumes and substantially less frequent dosing, once every two weeks, compared with Strensiq's three- or six-times-weekly regimen. Elsewhere in the space, BioMarin Pharmaceutical entered HPP through its acquisition of Alesta Therapeutics, completed earlier this month, paying $275 million upfront with up to $215 million in additional milestone payments for ALE1, an oral small-molecule therapy in a phase I/IIa study, while Recursion Pharmaceuticals is developing the oral ENPP1 inhibitor REC-102, formerly REV102, which remains in IND-enabling studies with a data-driven decision on a phase I study expected before the end of this year.

Novo Nordisk said the European Medicines Agency's Committee for Medicinal Products for Human Use has issued a positive opinion recommending approval of denecimig, also known as Mim8, for the treatment of hemophilia A, with or without inhibitors, in adults and children. Denecimig is a next-generation factor VIIIa mimetic bispecific antibody given subcutaneously as routine prophylaxis, with flexible dosing that includes once-monthly, every-two-week and weekly administration, and it is being developed as a prefilled pen. Novo expects to launch the drug in the first European countries in the fourth quarter of 2026 under the brand name Frehemgo, followed by a broader rollout across the European Union beginning in early 2027. The positive opinion is supported by data from the FRONTIER clinical program, which comprises five studies evaluating denecimig as a prophylactic treatment for hemophilia A across pediatric and adult populations, with or without inhibitors; in the FRONTIER 2 study denecimig significantly reduced annualized bleeding rates, results in children younger than 12 in FRONTIER 3 were consistent with those in adolescents and adults, and in FRONTIER 5 no new safety concerns were identified when participants switched directly from emicizumab to denecimig. The candidate is also under regulatory review in the United States for routine prophylaxis in adults and children with hemophilia A, with or without inhibitors, after Novo submitted a biologics license application to the FDA in September 2025. Novo already markets Alhemo for hemophilia A and B in patients with or without inhibitors.

Arcturus Therapeutics Holdings Inc. announced it will host a virtual presentation on Wednesday, September 23, 2026, at 4:30 p.m. ET covering the ARCT-810 Phase 2 clinical program for Ornithine transcarbamylase deficiency and the company's mRNA liver therapeutics platform. The company will issue a press release summarizing the presentation prior to the call. Marshall Summar, M.D., a founding member and Executive Committee member of the NIH UCD Consortium and a recognized expert in rare diseases and OTC deficiency, will participate in the presentation. ARCT-810 is an intravenously administered investigational mRNA therapeutic designed to express normal functional OTC enzyme in the liver of individuals with OTC deficiency, and it holds Orphan Medicinal Product Designation and an approved pediatric investigation plan from the European Medicines Agency, plus Orphan Drug Designation, Fast Track Designation and Rare Pediatric Disease Designation from the U.S. Food and Drug Administration. In Europe and the U.S., approximately 10,000 people have OTC deficiency.

Andelyn Biosciences announced it is now manufacturing FAYUVI, Ultragenyx Pharmaceutical Inc.'s FDA-approved gene therapy for Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA, for commercial supply at its Columbus, Ohio facility. The move follows the U.S. Food and Drug Administration's approval of FAYUVI, making it the first FDA-approved gene therapy manufactured using the Andelyn AAV Curator Platform process. Sanfilippo syndrome type A is a rare, fatal lysosomal storage disease that primarily affects the central nervous system and is marked by rapid neurodegeneration beginning in early childhood; it is estimated to affect 3,000 to 5,000 patients worldwide, with a median life expectancy of 15 years. Andelyn Chief Executive Officer Wade Macedone said the company is proud to manufacture an FDA-approved gene therapy for commercial use using an AAV Curator Platform process, calling the milestone a reflection of the purpose behind Andelyn's founding. Andelyn, a full-service FDA-inspected cell and gene therapy commercial CDMO with more than 20 years of experience, has produced clinical and commercial material for more than 500 cGMP batches and 85 global clinical trials.

The U.S. Food and Drug Administration has approved FAYUVI, also known as UX111, a gene therapy developed by Ultragenyx Pharmaceutical Inc. for the treatment of patients with Sanfilippo syndrome type A, or MPS IIIA, a rare and progressive neurodegenerative lysosomal storage disorder. Abeona Therapeutics Inc. congratulated Ultragenyx on the approval, noting that the therapy originated from pioneering research by Drs. Haiyan Fu and Douglas McCarty at The Ohio State University and Nationwide Children's Hospital and was advanced through clinical development by Abeona as ABO-102 before Abeona out-licensed global development and commercialization rights to Ultragenyx in May 2022. Abeona Chief Executive Officer Vish Seshadri called the approval an extraordinary milestone for patients and families affected by a devastating disease that has lacked effective therapeutic options. The approval also represents a meaningful value-creation event for Abeona, which under its licensing agreement with Ultragenyx is eligible to receive certain commercial milestone payments and royalties tied to future product sales. FAYUVI is designed to deliver a functional copy of the SGSH gene to the central nervous system via an AAV9 viral vector, addressing the root genetic cause of MPS IIIA.

Eli Lilly has entered an exclusive research collaboration with QurCan Therapeutics to develop genetic medicines for nervous system diseases. The agreement centers on QurCan's polymer lipid nanoparticle delivery platform for central and peripheral nervous system targets, with Eli Lilly responsible for later development and commercialization. Lilly is also making a strategic investment in QurCan Therapeutics, tying capital directly to progress in genetic medicine delivery technology. The deal pushes Lilly further toward expansion in neurodegenerative and other specialty drugs alongside its well known GLP 1 portfolio, though pricing pressure and payer pushback still hang over Mounjaro, Zepbound and Foundayo. Investors will want to see a first concrete output such as a nominated development candidate or an announced IND timeline for at least one nervous system genetic therapy.

On September 18, the Ministry of Industry and Information Technology, the National Development and Reform Commission, and eight other ministries jointly released the 15th Five-Year Plan for the Development of the Pharmaceutical Industry, proposing that by 2030, biopharmaceutical R&D and application will rank among the world's leaders, and the biopharmaceutical industry will accelerate its rise as a national emerging pillar industry. The plan sets 10 expected indicators covering industrial scale and efficiency, innovative development, enterprise cultivation, and cluster development, including operating revenue of pharmaceutical industrial enterprises above designated size exceeding 3.5 trillion yuan, an average annual growth rate of the innovative drug industry scale exceeding 20 percent, more than 5 products with global annual sales exceeding 1 billion US dollars, first-in-class innovative drugs accounting for more than 25 percent of the global total, more than 200 innovative medical devices launched, 50 pharmaceutical industrial enterprises with annual operating revenue exceeding 10 billion yuan, and 20 pharmaceutical industrial parks at the 100-billion-yuan level. Boosted by this news, the three major stock indices all rose more than 1 percent in early trading that day. Huatian Technology hit the daily limit up, with turnover of 6.065 billion yuan, nearly 1.47 million lots of sealed buy orders on the limit-up board, and nearly 3.3 billion yuan of main capital rushing in, ranking first in the A-share market. Zhou Sicong, fund manager of Ping An Pharmaceutical Select, believes innovative drugs are likely to become an important growth theme, and CITIC Securities said China's innovative drugs have entered a stage of global value realization. According to statistics from Securities Times Data Treasure, since September, Chengdu Leading Pharmaceutical, Asymchem Laboratories, Porton Pharma Solutions, and Hunan Warrant Pharmaceutical have led gains, all rising more than 10 percent, with Chengdu Leading Pharmaceutical up a cumulative 16.87 percent.

BioCryst Pharmaceuticals is looking to acquire more rare disease treatments after reaching consistent profitability on the strength of its hereditary angioedema drug Orladeyo, CEO Charlie Gayer told CNBC on August 28, 2026. Gayer, who took the role in January, said the company expects profits to keep growing every year and does not want to depend on raising outside capital to fund operations. Orladeyo is projected to bring in up to $645 million in 2026 sales. BioCryst has already used its improved financial footing to acquire Astria Therapeutics in January, adding a late-stage hereditary angioedema candidate called navenibart to its pipeline. The company still carries negative shareholders' equity and roughly $822 million in combined term-loan and royalty obligations, and it recorded a $697.8 million non-cash charge tied to acquired in-process research and development from the Astria transaction.

DelveInsight estimates the paroxysmal nocturnal hemoglobinuria market across the seven major markets was valued at approximately USD 1.5 billion in 2025 and is projected to expand at a CAGR of 7.1% through 2036, driven by novel complement-targeted therapies and rising diagnosis. The seven major markets comprise the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan. Five emerging therapies are highlighted as poised to reshape the market: Regeneron Pharmaceuticals' Pozelimab plus Cemdisiran, Novo Nordisk's Zaltenibart, also known as OMS906, NovelMed Therapeutics' Ruxoprubart, also known as NM8074, Kira Pharmaceuticals' KP104, and NovelMed Therapeutics' NM5072. Aparna Thakur, Project Manager of Forecasting and Analytics at DelveInsight, said Pozelimab is expected to generate the highest revenue in the 7MM, followed by Zaltenibart, which demonstrated strong efficacy in a Phase II study in PNH patients with suboptimal responses to ravulizumab. Regeneron has said Phase III results for the pozelimab-cemdisiran combination in PNH are anticipated in the fourth quarter of 2026 or the first quarter of 2027, while Novo Nordisk gained exclusive worldwide rights to zaltenibart through an asset purchase and license agreement with Omeros Corporation announced in November 2025.

Vera Therapeutics reported that TRUTAKNA met all prespecified endpoints in the final Phase III ORIGIN 3 trial for IgA nephropathy. The company said the study showed prevention of disease progression and stabilization of kidney function alongside a favorable safety profile. Management plans to seek full FDA approval for TRUTAKNA later in 2026 through a supplemental biologics license application. Early launch signs, with more than 350 patient start forms in ten weeks, point to real demand, though Vera is coming off a very low revenue base. A practical checkpoint will be how prescription trends and patient start forms look by the time Vera files its supplemental BLA in the fourth quarter of 2026.

Scholar Rock Holding Corporation secured FDA approval on September 11 for ISEMBYLD, apitegromab-mstn, to treat spinal muscular atrophy in adults and children aged two and older currently receiving survival motor neuron 2-targeted therapy. In the Phase 3 SAPPHIRE trial, children aged 2 to 12 receiving the approved 10 mg/kg dose showed a 2.2-point advantage over placebo after one year on the Hammersmith Functional Motor Scale-Expanded, with a gain of at least three points occurring in 34.2% of treated patients versus 13.5% receiving placebo. Scholar Rock said its U.S. launch was underway, with shipments expected in the coming days, supported by a patient-support program for insurance coverage, financial assistance, and infusion logistics. Fractures occurred in 9% of patients receiving the approved dose versus 2% receiving placebo, and the safety information warns of fractures, including serious fractures, with clinicians possibly stopping treatment following a fracture. Insider Monkey's database showed 51 hedge funds holding Scholar Rock at the end of 2Q2026, up from 49 funds three months earlier.

Scholar Rock Holding's modelled fair value has edged higher to US$62.06 from US$59.31 following the FDA approval of ISEMBYLD and a wave of analyst revisions. Several firms, including BMO Capital, Citi, Truist, Raymond James, Evercore ISI, Piper Sandler, Wedbush and H.C. Wainwright, have lifted their price targets into the US$70s and even low US$80s, citing the breadth of the ISEMBYLD label and its use as a muscle-targeted treatment on top of SMN2 therapies. JPMorgan anchors its target at US$63, while Barclays downgraded the stock to Equal Weight even as it raised its target to US$58, arguing the approval outcome was largely priced in. The updated valuation assumes long-term revenue growth of 684.10%, up from 638.02%, a net profit margin of 17.73% versus 18.92%, a future P/E of 134.46x versus 140.37x, and a discount rate of 7.51% versus 7.22%.

Goldman Sachs has identified Chinese healthcare stocks as a key post-AI growth opportunity, with pharmaceutical names accounting for one-third of the 12 companies that made its final screen. In a Sept. 7 report, the firm's portfolio strategy research team said nearly half of MSCI China index constituents beat estimates in the second quarter, led by IT and healthcare, and that Chinese stocks' earnings tracked by Goldman Sachs grew at their highest quarterly pace in five years at 24% in the second quarter from a year ago, accelerating from just 6% in the first quarter. The analysts screened their buy-rated coverage for Chinese companies with expected earnings growth of more than 15% annually through 2027 and an increase in earnings per share estimates by a median of 7% over the past month. The four healthcare names on the list are Suzhou-based Innovent Biologics, whose earnings are expected to more than double in the year ahead with Goldman's estimate 54 percentage points above consensus; Shanghai-listed BeOne Medicines, also expected to more than double; Hong Kong-listed CSPC, forecast to grow 26%; and Hong Kong-listed Hansoh Pharma, forecast to grow 15%. Goldman expects MSCI China earnings to grow by 8% this year, far more conservative than the consensus forecast for 17%.

Biogen executives said the company is advancing 10 Phase III programs with clinical readouts beginning in the fourth quarter as it works to offset declines in its legacy multiple sclerosis business and return to growth. Speaking at a Wells Fargo conference, Chief Financial Officer Robin Kramer said the pipeline is at a pivotal point for growth, with the Fit for Growth initiative redirecting investment from the MS portfolio into newer launches including LEQEMBI, SKYCLARYS and ZURZUVAE. Head of corporate development Adam Keeney said Biogen has expanded into immunology and nephrology through deals including the HI-Bio acquisition and its felzartamab asset, whose initial focus is antibody-mediated rejection in kidney transplantation, where there are no approved therapies and roughly 11,000 U.S. patients experience secondary rejection. The Apellis acquisition added commercial products and nephrology capabilities, including SYFOVRE in geographic atrophy, and Biogen expects the deal to be dilutive in 2026 mainly on interest expense while targeting roughly $250 million in annualized cost savings exiting next year and paying down the related debt by the end of 2027. Keeney said Biogen expects to focus more on earlier-stage business development through 2027, particularly in immunology, rare disease and neurology, and is not financially constrained for early-stage transactions.

The US FDA has approved Pharming Group's Joenja, also known as leniolisib, for children between the ages of four and 11 with a rare genetic immune system disorder. The treatment was previously approved in 2023 for individuals 12 years and older with activated phosphoinositide 3-kinase delta syndrome, or APDS. The approval was based on safety and pharmacokinetic data from a single-arm, open-label study. Individuals with APDS suffer from recurrent infections, especially in the sinuses, ears, and respiratory tract, and also develop enlarged lymph nodes, tonsils, and spleen.

MEDIPAL HOLDINGS CORPORATION and JCR Pharmaceuticals Co., Ltd. announced that the first participant has been dosed in the global Phase I/II trial of JR-446 for mucopolysaccharidosis type IIIB, also known as Sanfilippo syndrome type B. JR-446 is a blood-brain barrier-penetrating alpha-N-acetylglucosaminidase developed by JCR using its proprietary J-Brain Cargo technology, and MEDIPAL holds commercialization rights for JR-446 outside Japan. The global, multicenter, open-label trial is enrolling patients with MPS IIIB under six years of age and is registered on ClinicalTrials.gov under identifier NCT07640984. MPS IIIB is an ultra-rare lysosomal storage disorder estimated to affect approximately 500 to 1,000 people worldwide, and there is currently no approved treatment. Under a September 2023 licensing agreement, MEDIPAL holds exclusive worldwide commercialization rights excluding Japan with the right to sublicense, while JCR leads the global Phase I/II trial and development activities as sponsor; a separate Phase I/II trial, JR-446-101, is ongoing in Japan under the companies' co-development agreement, and JR-446 received orphan drug designation in the United States, the European Union, and Japan in 2025.

Bayer announced that the FDA has granted accelerated approval to sevabertinib for the first-line treatment of adult patients with locally advanced or metastatic non-small cell lung cancer whose tumors have HER2 tyrosine kinase domain-activating mutations. The approval was based on data from the ongoing phase I/II SOHO-01 study, which showed a 75% objective response rate, including complete responses in 6% of patients and partial responses in 70%, with 73% of responders maintaining their response for at least six months. Bayer is running the phase III SOHO-02 confirmatory study of sevabertinib versus standard treatment in previously untreated patients with advanced HER2-mutant NSCLC, and positive data could support converting the accelerated approval into traditional approval in the United States. Sevabertinib, which originated from Bayer's research collaboration with the Broad Institute of MIT and Harvard, received FDA accelerated approval in November 2025 under the brand name Hyrnuo for previously treated patients, and is also approved in China as a monotherapy for adults with unresectable, locally advanced or metastatic HER2-mutant NSCLC after at least one prior systemic therapy and in Japan for HER2-mutant NSCLC regardless of treatment line, including first-line use. In a separate press release, Bayer said it has initiated a global phase II study of BAY 3670549, an investigational highly selective GIRK4 inhibitor, in patients with atrial fibrillation who require electrical cardioversion, following a favorable safety and tolerability profile in the completed phase I first-in-human study.

Precigen's sole marketed drug Papzimeos generated $74.6 million in revenues during the first six months of 2026, with second-quarter sales more than doubling sequentially. Papzimeos is the first and only FDA-approved therapy for adults with recurrent respiratory papillomatosis, and management said demand continued to grow as the third quarter progressed. The company's marketing authorization application for Papzimeos in Europe is under review, and the drug holds seven years of FDA market exclusivity through Aug. 14, 2032. Rival Inovio Pharmaceuticals is developing INO-3107 for RRP, with an FDA decision expected on Oct. 30, 2026. Precigen also plans to update on its AdenoVerse portfolio, including PRGN-2009 in a phase II study with Merck's Keytruda, by the end of 2026.

Tectonic Therapeutic reported second quarter results on August 6 built around two clinical wins rather than sales, since the clinical-stage biotech has no products on the market. The company completed enrollment for its APEX Phase 2 trial of TX45 in patients with pulmonary hypertension tied to heart failure with preserved ejection fraction in June, bringing in 191 patients across 14 countries, with 137 of them, about 70%, in the sicker CpcPH subgroup with pulmonary vascular resistance above 3 Wood Units. In July an independent data monitoring committee reviewed unblinded safety and efficacy data covering roughly 80% of expected patient exposure and recommended the trial continue without changes, with topline results expected in early Q1 2027. Tectonic also finished dosing all six single-dose cohorts of TX2100 in healthy volunteers in July as part of a Phase 1a trial in hereditary hemorrhagic telangiectasia, with topline results due by the end of Q3 2026 and plans to start a Phase 1b trial in transfusion- or iron-dependent HHT patients and a Phase 2 trial in moderate to severe patients in early 2027, both conditional on favorable data. The company posted a net loss of $22.3 million for the quarter ended June 30, 2026, up from $20 million a year earlier, as R&D spending rose to $18 million from $17.2 million and G&A climbed to $6.2 million from $5.2 million, while cash and cash equivalents fell to $227.1 million from $236.9 million even after raising roughly $11.7 million through an at-the-market stock offering; that runway is projected to last into Q1 2029. Hedge fund ownership rose to 23 funds from 19, while short interest sits at 17.86% of the float.