Amy Waldman, MD, pediatric neurologist and Medical Director of the Leukodystrophy Center at the Children’s Hospital of Philadelphia, discusses the approval of zilganersen to treat patients with Alexander disease.

Alexander disease is a rare leukodystrophy that impairs neuronal signalling. Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size, seizures, stiffness in the arms and/or legs, intellectual disability, and developmental delay. Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the central nervous system.

Zilganersen is an antisense oligonucleotide that binds to RNA and is designed to inhibit production of excess glial fibrillary acidic protein (GFAP) that accumulates as a result of pathogenic variants in the GFAP gene. It is the first and only disease modifying therapy approved for this indication.

The approval is based on positive results from a global, multicenter, randomized, double-blind, controlled, multiple-ascending dose (MAD) phase 1-3 study (NCT04849741) that enrolled 54 participants with Alexander disease.

The study met its primary endpoint in individuals 5 years of age and older, with zilganersen 50 mg demonstrating statistically significant and clinically meaningful stabilization of gait speed as assessed by the 10-Meter Walk Test (10MWT) compared to control at week 61. The treatment also demonstrated a favorable safety and tolerability profile, with most adverse events being mild or moderate in severity.

Alexander disease faces a unique challenge to getting on newborn screening panels. Although the disease does typically present in young children, GFAP accumulation may not be high enough to detect at birth. Dr. Waldman explains that research is still being done to determine when the earliest possible diagnosis can be made. However, she highlights the following red flag symptoms that may point to central nervous system involvement and may warrant genetic testing: in younger children these include gross motor and developmental delays, seizures, and in older children, these include more mild symptoms such as hypernasal speech, speech delay, vomiting, and gait imbalance.

For more information on the approval, visit https://ir.ionis.com/news-releases/news-release-details/zanvastrotm-zilganersen-approved-fda-first-and-only-disease

To learn more about Alexander disease and other rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/

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Jenny McCue, Vice President of Global Research and Clinical Development at the Myasthenia Gravis Foundation of America (MGFA), discusses research highlights to be presented at the upcoming 2026 MGFA Scientific Session being held September 29th in Orlando, FL.

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. It mostly develops in adults but children can also develop this rare condition. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. The condition results from a defect in the transmission of nerve impulses to muscles usually due to the presence of antibodies against the acetylcholine receptor at the neuromuscular junction. The exact reason this occurs is not known.

MGFA is a patient advocacy organization focused on driving research through funding and connecting scientists and physicians working on MG around the world. The MGFA works in funding pilot grants for early phase research, as well as foundation and fellowship grants that fund clinical and translational research. This year the organization is launching three new series of grants focused on seronegative, biomarkers, and pediatrics. Visit the MGFA website for more information on grant funding.

The MGFA Scientific Session brings together researchers, physicians, and investigators to discuss the newest science in myasthenia gravis. The MGFA Scientific Session will take place Tuesday, September 29, 2026 during the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) Annual Meeting.

This year’s session will host the most research seen at the event yet, which Ms. McCue says speaks to the growing number of the MG community as well as study areas within the disease. The session is organized around some of these areas that cover the full timeline of the MG journey.

Keynote speaker Dr. Sarah Hoffmann will start the day, then the first section of presentations will focus on biomarkers, basic science, and diagnostics. The story then transitions to the second and largest area of research, therapeutics and clinical trials. The third section will focus on seronegative MG. Then, the meeting closes out with “hot topics” of patient care, outcomes, digital health and real world evidence. Complementing the day, poster sessions will run throughout the event.

Ms. McCue highlights the importance of healthcare practitioners staying up to date with the latest research. Key areas of focus include the need to be aware of early and more accurate diagnosis, treatment that matches a more individual experience with MG, and better monitoring and access to tools.

To learn more about MG and other rare musculoskeletal conditions, visit https://checkrare.com/diseases/musculoskeletal-diseases/

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Staci Kallish, DO, and Dawn Laney, MS, CGS, CCRC, examine how best to address patients’ real-life concerns about managing Fabry disease and its comorbidities. The program includes patients’ honest and candid testimonials on how their 1) symptoms are managed, 2) risk of stroke is managed, 3) risk of kidney failure is managed, and 4) physicians work as a team.

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Ratna Bhavaraju-Sanka, MD, and Chilvana Patel, MD, summarize clinically relevant findings and discusses their potential implications for enhancing the care of patients with myasthenia gravis.

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Carol Roberts, President of The PBCers Organization, discusses results from the Voice of PBC patient survey.

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Karen A. Jones, EdD, President and CEO of wAIHA Warriors, discusses the approval of Imaavy (nipocalimab) and its impact on patients with warm autoimmune hemolytic anemia (wAIHA).

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Margarita Ochoa-Maya, MD, and James Radke, PhD, discuss why diagnostic delays occur and what can be done to help patients reach the right diagnosis sooner.

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Marina Kremyanskaya, MD, PhD, Associate Professor at Icahn School of Medicine at Mount Sinai, discusses the phase 2 topline findings from the SANRECO clinical trial and the evolving polycythemia vera (PV) treatment landscape.

PV is a condition characterized by an increased production of red blood cells. Affected people may also have excess white blood cells and platelets. The excess cell levels lead to thicker blood and increased risk for serious thrombotic events and stroke. PV occurs more frequently in men than it does in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes.

The SANRECO clinical trial is a phase 2, 36-week, randomized, double-blind, placebo-controlled trial evaluating divesiran (6 mg/kg) administered subcutaneously every six weeks (Q6W) or every twelve weeks (Q12W) in 48 phlebotomy-dependent patients with PV.

Divesiran is a first-in-class siRNA designed to silence the TMPRSS6 gene, thereby increasing hepcidin production and its release by liver hepatocytes, leading to the restriction of iron to the bone marrow and, thus, reducing the excessive production of red blood cells.

The study met its primary endpoint, with 88% of patients achieving a response among divesiran-treated patients with PV, compared to 19% of those who received placebo. The primary endpoint was the proportion of patients achieving a response, defined as the absence of phlebotomy and maintenance of hematocrit below 45% during weeks 18-36. Both 6 and 8 week dosing schedules showed substantial primary endpoint efficacy with response rates of 93.8% and 81.3% for Q6W and Q12W, respectively.

The key secondary endpoint of phlebotomy rate during weeks 0-36 was also met with the mean number of phlebotomies per patient in the divesiran groups significantly reduced at 0.2, compared to placebo at 2.1. Divesiran groups also showed improvements in hematocrit control, iron markers including ferritin, and patient reported outcomes using the MPN-SAF Total Symptom Score.

Divesiran was well tolerated and safety was in line with previous trials. No new safety findings were observed in the trial. Injection site reactions were infrequent and self-limiting. There were two investigator reported grade 1 anemia adverse event cases.

To learn more about PV and other rare hematologic disorders, visit https://checkrare.com/diseases/hematologic-disorders/

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Carol Roberts, President of The PBCers Organization, discusses results from the Voice of PBC patient survey.

PBC is a chronic, progressive autoimmune liver disease in which the bile ducts become inflamed and damaged. This leads to the buildup of bile and causes scarring, cirrhosis, and eventual liver failure. Many people do not have symptoms when they are first diagnosed. Early symptoms may include fatigue, pruritus, and abdominal pain. As the disease progresses, people with PBC may develop weakness, nausea, diarrhea, edema, bone and joint pain, jaundice, dark urine, and xanthomas. It is thought to be caused by a combination of genetic susceptibility and environmental triggers.

In recognition of PBC Awareness Month, The PBCers Organization released results of its national Voice of PBC survey. The survey captured the lived experience of 210 patients living with PBC, revealing a heavy and often invisible burden.

In terms of the physical impact of disease, 75% of respondents received a diagnosis after an abnormal routine blood test, with no prior warning symptoms. Among patients who did notice symptoms prior to diagnosis, the most commonly reported were fatigue, itching, dry eyes and mouth, and brain fog. 57% reported severe or some impact on their physical well-being, 87% had at least one additional autoimmune or related condition alongside PBC, and 45% saw improvement in their symptoms since starting current treatment.

This survey also revealed the impact of PBC on patients’ emotional wellbeing, with 53% indicating that fear of the future and uncertainty about their long-term health is their defining emotional response. 49% felt misunderstood, 44% reported increased anxiety, and 33% reported having depression or low mood. Additionally, 51% responded that this emotional impact was severe.

Finally, the social impact of the disease highlights the stigma surrounding PBC. 60% of patients reported being told that they did not look sick and 53% had dismissively told their condition is caused by alcohol or drugs. This fear of being misjudged has led to only 30% feeling very comfortable disclosing their diagnosis to coworkers, compared to 67% with immediate family. Additionally, 48% reported severe or some impact on their social interactions and 58% reported experiencing financial strain related to their PBC.

These findings showcase the daily reality faced by patients with PBC and highlight the need to listen to patient voices and change the conversation around liver disease.

To learn more about PBC and other rare autoimmune conditions, visit https://checkrare.com/diseases/autoimmune-and-auto-inflammatory-disorders/

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