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The CheckRare Brief

The CheckRare Brief

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A weekly roundup of the latest news in rare disease.

The CheckRare Brief delivers a concise roundup of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights, scientific publications, and industry news that matter to healthcare professionals, researchers, advocates, and the rare disease community.

Produced by CheckRare, The CheckRare Brief helps you stay informed—in just a few minutes each week.

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  • Therapies for MCT8 Deficiency and Nephrotic Syndrome Get FDA Approval

    Therapies for MCT8 Deficiency and Nephrotic Syndrome Get FDA Approval
    Oct 8 2026
    On September 28th, the FDA approved Emcitate, or tiratricol, from Egetis Therapeutics. It's the first-ever treatment for MCT8 deficiency, a condition also known as Allan-Herndon-Dudley syndrome. MCT8 deficiency is a rare genetic disorder that mostly affects boys because the gene is on the X chromosome. The gene here makes a transporter protein called MCT8, which carries thyroid hormone into cells. When that transporter doesn't work, it creates two problems. One is central, and one is peripheral. On the central side, the brain is starved of thyroid hormone, and this leads to numerous developmental concerns. On the peripheral side, excess thyroid hormone builds up in the bloodstream and can be toxic, creating chronic stress on the heart and metabolism.Emcitate lowers excess thyroid hormone circulating in the blood, which is what this approval targets: peripheral toxicity. The FDA based its decision on two studies that showed reductions in excess thyroid hormone levels in the blood, along with improvements in heart rate and blood pressure.Emcitate received five major FDA designations, including orphan drug, rare pediatric disease, fast track, breakthrough therapy, and priority review. That's a pretty strong signal of how seriously the FDA viewed this condition.On September 25th, the FDA approved Gazyva, or obinutuzumab, from Genentech to reduce the risk of relapse in patients ages 2 years and older with frequently relapsing or steroid-dependent childhood-onset idiopathic nephrotic syndrome who are in complete remission. Genentech is calling it the first FDA-approved treatment option for this condition in 70 years. Nephrotic syndrome happens when the kidney's filter starts leaking large amounts of protein into the urine. As protein is lost, albumin levels in the blood drop, fluid shifts into the tissues, and patients develop swelling, often first around the eyes and in the legs. They also have high cholesterol and a higher risk of infections and blood clots. Steroids are the first-line treatment and usually work, but more than 70% of patients relapse, and long term use of steroids has its own set of problems.Gazyva is a monoclonal antibody that targets CD20 on B cells. In the Phase 3 INShore study, 95 percent of patients on Gazyva stayed in complete remission without relapse through week 52.Gazyva actually started in blood cancers, where it targets B cells. Then it moved into lupus nephritis, and now it's approved for another kidney disease. So we're seeing Gazyva move from cancer into autoimmune diseases.And Genentech isn't stopping there. It's studying Gazyva in other disorders. So once a drug proves it can target a particular mechanism, companies can look for other diseases where that same approach might work.The Myasthenia Gravis Foundation of America held its 2026 Scientific Session on September 29th in Orlando, alongside the AANEM Annual Meeting. And industry showed up in force for myasthenia gravis: Johnson & Johnson had 26 abstracts, argenx had 18, Alexion and AstraZeneca had 15, UCB had 5, and Amgen had 2. Myasthenia gravis is an autoimmune disease in which a person's own antibodies attack the junction where nerves signal muscles to contract, most often by targeting the acetylcholine receptor. Myasthenia gravis is also a great model for studying autoimmune diseases. Researchers have a better understanding of the pathophysiology, the chain of events that creates these immune overreactions, and how to measure outcomes reliably. Right now there are three main approaches for myasthenia gravis. The first is FcRn blockers. The second is complement inhibitors. The third approach goes further upstream and targets the B cells that make the antibodies. So you have drugs that remove the antibodies, drugs that block the damage they cause, and drugs that reduce their production. None target the ACHR antibody exactly, but they do target the immune system that produces those autoantibodies. And that knowledge is transferable to other autoimmune conditions, ones that are not as fully understood as myasthenia gravis. For patients with other rare autoimmune diseases, that's encouraging. A therapy developed and validated in one disease may ultimately give researchers a faster path to treating another.ReferencesFDA Approves First Treatment for MCT8 Deficiency https://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-mct8-deficiency FDA Approves Gazyva for Idiopathic Nephrotic Syndrome in Patients Aged 2 and Older https://www.gene.com/media/statements/ps_092526 2026 MGFA Scientific Session https://myasthenia.org/events/2026-scientific-session/ FDA Approves Uplizna for the Treatment of Generalized Myasthenia Gravis https://checkrare.com/fda-approves-uplizna-for-the-treatment-of-generalized-myasthenia-gravis/Produced by CheckRare.Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare ...
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    9 min
  • New Rare Disease Center of Excellence and FDA Advances in Rare Disease

    New Rare Disease Center of Excellence and FDA Advances in Rare Disease
    Sep 29 2026
    This week on The CheckRare Brief, we are joined by Eugene Lee, Head of CMI Media Group’s Rare Disease Division, for an industry perspective on some of the biggest developments in rare disease.CMI Media Group recently launched a Specialized Rare Disease Center of Excellence to scale precision marketing to smaller pharmaceutical companies. CMI is well known for its media and communications capabilities in the healthcare space for 37 years. CMI is now applying this longstanding commitment to the healthcare industry to rare conditions, which require a more targeted approach because patient populations and HCP audiences are smaller and highly specialized. CMI’s Centers of Excellence (COE) bring together CMI's data, technology, expertise, and experience to help clients navigate that complexity. The FDA approved Bravnesta (lutetium Lu 177 dotatate) to treat neuroendocrine disorders. The approval is for a generic version of Novartis’ radioligand therapy, Lutathera, to treat somatostatin receptor-positive gastroenteropancreatic neuroendocrine tumors (GEP-NETs). The approval is largely based on showing the new generic drug, Bravnesta, has similar bioequivalence and therapeutic equivalence. Novartis’ therapy has been available since 2018 and, in that time, has provided great benefit to these patients, and those patients now have a generic option to assist them.The FDA also approved Lyrfigtu (lirafugratinib) as second-line therapy for patients with cholangiocarcinoma. Cholangiocarcinoma is an aggressive cancer of the bile duct. Standard first-line therapy for the past 10 years has been gemcitabine and cisplatin, a chemotherapy combination used for many types of cancers. If that treatment is no longer effective, Lyrfigtu is an option. Lyrfigtu is a FGFR2 inhibitor, and FGFR2 is a protein often altered in cancers. The drug is also being tested for other solid tumors with FGFR2 fusions. The data supporting approval came from a phase 1/2 study in which median progression-free survival was 11 months. Which, for this aggressive cancer, is very significant.Second-line therapies, especially for rare cancers, are a common initial indication for new orphan drugs. First-line treatments are often well established, as is the case here, so replacing them requires a strong body of evidence. Finally, the FDA issued new guidelines for clinical trials involving rare diseases, and other diseases with diverse patient populations. The new initiative is a statistical model that accounts for different symptoms and presentations in patients with the same disease. For example, in Fabry disease, some have poor kidney function, others have cardiac problems, others have neuropathic pain. To have a clinical trial that only includes one of those symptoms as the baseline outcome measure, limits the patients who can enrol.The new FDA model allows patients to enroll with different baseline levels for different outcome measures and subgroup them accordingly, but the final analysis combines those subgroups into a total group to see whether the drug is effective, statistically speaking. It can also reduce the recruitment time for these small rare conditions from several years to several months. The rare disease space is known for its innovative research and it is nice to see that innovation also occurring at the regulatory level. Looking aheadSeveral important FDA decisions are coming up, including:.Tlevar Therapeutics' therapy for cholangiocarcinoma and Praxis' therapy for SCN2A and SCN8A deficiencies.Egetis Therapeutics' orphan drug to treat patients with MCT8 deficiency.ReferencesCMI Media Group Launches Specialized Rare Disease Center of Excellence (COE) to Scale Precision Marketing for Niche Pharmahttps://cmimediagroup.com/resources/cmi-media-group-launches-specialized-rare-disease-center-of-excellence-coe-to-scale-precision-marketing-for-niche-pharma/FDA approves Lu177 dotatate for NETshttps://www.globenewswire.com/news-release/2026/09/22/3366274/0/en/lantheus-receives-final-fda-approval-for-bravnetsa-lutetium-lu-177-dotatate-the-only-radiopharmaceutical-fda-has-determined-to-be-bioequivalent-and-therapeutically-equivalent-to-lu.html FDA approves drug for 2nd line cholangiocarcinomahttps://www.globenewswire.com//news-release/2026/09/23/3367897/0/en/elevar-therapeutics-announces-fda-approval-of-lyrfigtu-lirafugratinib-as-second-line-cholangiocarcinoma-with-fgfr2-fusion-or-other-rearrangement-treatment-option.htmlFDA Provides novel ways to design clinical trials for rare diseases while still be statistically complianthttps://www.fda.gov/drugs/regulatory-science-action/novel-stratum-specific-trial-design-improves-statistical-power-rare-diseases-heterogenous-clinical Produced by CheckRare.Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.Part ...
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    10 min
  • FDA Approves New Therapies for MPS IIIA and SMA

    FDA Approves New Therapies for MPS IIIA and SMA
    Sep 23 2026
    The FDA announced the approval of Isembyld (apitegromab-mstn) to treat patients 2 yrs and older with spinal muscular atrophy who are currently receiving SMN2-targeted therapy.SMA is a genetic condition in which patients lose spinal muscle function due to a mutation in the SMN1 gene. There are three therapies for this condition: one is a gene therapy that replaces the SMN1 gene, and the other two, significantly cheaper therapies, increase the activity of a backup gene, SMN2, to increase the missing SMN protein. This new drug is an add-on therapy to those two latter therapies that target SMN2. It will be interesting to see how payers and physicians decide where this fits, particularly when you're treating a relatively small patient population with very expensive therapies.There's another interesting piece to this approval. Scholar Rock received a pediatric priority review voucher. These vouchers are intended to encourage companies to develop treatments for children, something that historically has been more difficult because pediatric clinical trials can be challenging to conduct. We're seeing pharmaceutical companies increasingly pursue these opportunities.The FDA also approved a gene therapy for MPS IIIa, also referred to as Sanfilippo syndrome type A. MPS IIIa is a devastating disease. These children start out looking very healthy, but as toxic levels of heparin sulfate accumulates in their cells, these children begin a cognitive and behavioural decline that completely disrupts the family.The results from the study leading to the approval is impressive. Instead of the typical cognitive decline seen in these children, adding gene therapy stabilized or improved their cognitive abilities.The therapy is priced at $3.9 million for a single treatment. That's obviously an enormous dollar amount, and payers generally don't like paying that kind of cost upfront, even when a one-time therapy could potentially be less expensive over the long term than years of continuous treatment.It's also an important moment for Ultragenyx. This is their second FDA approval in the last month, and they've established 25 centers capable of delivering the gene therapy, with plans to expand that to 40.So this isn't just about getting therapy approved. It's also about building the infrastructure to actually get these therapies to patients.The FDA's Center for Devices and Radiological Health (CDHR) introduced its Rare Disease Impact Initiative. While we tend to focus on drug therapies to manage patients with rare conditions, there are many diseases that rely on medical devices to manage and/or monitor patients. At last count, the FDA listed over 2000 devices that are being used to help people with rare conditions. The FDA's Rare Disease Impact Initiative is designed to help medical-device developers work more directly with the FDA as they develop products for rare disease populations.It's another part of the rare disease ecosystem that we think deserves more attention.Looking AheadSeveral important FDA decisions are coming up.September 26: Mirum's therapy for fibrodysplasia ossificans progressiva, or FOP.September 27: Tlevar Therapeutics' therapy for cholangiocarcinoma and Praxis' therapy for SCN2A and SCN8A deficiencies.September 28: Egetis Therapeutics' orphan drug to treat patients with MCT8 deficiency.ReferencesFDA approves new SMA drughttps://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-therapy-target-muscle-loss-spinal-muscular-atrophyFDA approves gene therapy for MPS IIIAhttps://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type CDRH Rare Disease Impact Initiativehttps://www.fda.gov/about-fda/center-devices-and-radiological-health/cdrh-rare-disease-impact-initiative Produced by CheckRare.Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.
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    9 min
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