Maria Picone, co-founder and CEO of the TREND Community, and mother of a 14-year-old with Prader-Willi syndrome (PWS), discusses her family’s journey with PWS, including why more research and better data are so important.

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Mirum Pharmaceuticals recently announced positive topline results from its phase 3 EXPAND study, evaluating Livmarli (maralixibat) for cholestatic pruritus in patients six months and older with ultra-rare cholestatic liver diseases. Jennifer Vittorio, MD, an EXPAND investigator, an Associate Professor of Pediatrics, and the Medical Director of Pediatric Liver Transplantation at NYU Langone Health, discusses the findings. 

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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What were the results from the EXPAND clinical trial of maralixibat in patients with ultra-rare cholestatic liver diseases?

View the full interview at https://checkrare.com/mirums-livmarli-achieves-primary-endpoint-in-phase-3-expand-study/

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Sarah Cheng, MD, PhD, a clinical oculoplastic fellow at the University of California, San Diego, discusses findings from an exploratory study examining the biological changes in orbital tissue associated with Tepezza (teprotumumab-trbw) treatment. The findings were presented at the 2026 American Academy of Ophthalmology (AAO) Annual Meeting in New Orleans, Louisiana.

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View the full interview at https://checkrare.com/mirums-livmarli-achieves-primary-endpoint-in-phase-3-expand-study/

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Nisha Joseph, MD, Associate Professor in the Department of Hematology and Medical Oncology at the Emory University School of Medicine, discusses how bispecific antibodies are changing multiple myeloma treatment. 

Multiple myeloma is a rare cancer of the plasma cells and the most common type of plasma tumor. Plasma cells are white blood cells that make antibodies to protect against infection. In multiple myeloma, these cells multiply rapidly, crowding out normal cells in the bone marrow and affecting the production of red blood cells, platelets, and other white blood cells. Symptoms include bones that break easily, frequent infections, fatigue, bruising, and bleeding. About 36,000 Americans are diagnosed with multiple myeloma each year.

Multiple myeloma is challenging to treat. Between 30% and 50% of patients don’t respond to first-line therapy, and almost everyone who initially achieves remission relapses or develops resistance over time. Because of this, researchers are always looking for new ways to combat the disease. 

Dr. Joseph said that bispecific antibodies are especially promising because they help a patient’s T cells recognize and attack the cancer. She described the process in simple terms. “It basically gloms onto the T cell, gloms onto the myeloma cell, and says, ‘Hey, look over here. Kill this guy.’” 

Furthermore, Dr. Joseph shared that bispecific antibodies can be combined with other myeloma drugs because they fight cancer in different ways. For example, some drugs, such as immunomodulatory agents and cereblon E3 ligase modulatory drugs (CELMoDs), stimulate the immune cells, while bispecific antibodies direct T cells to attack myeloma directly. Researchers are trying to determine whether combining these treatments can improve patient outcomes. 

Despite their potential benefits, Dr. Joseph said that undergoing bispecific antibody treatment requires short-term and long-term considerations. 

In the short term, bispecific antibodies are typically administered via a ramp-up period that takes about a week. Initial doses are small, but they increase over time, and that process requires several doctor visits. Dr. Joseph shared that this approach reduces the risk of cytokine release syndrome (CRS), which can cause fever, low blood pressure, and shortness of breath. Some patients may also experience neurological symptoms, which can require caregiver support.

The good news is that after the initial ramp-up period, Dr. Joseph said these side effects generally become much less of a concern.  

In the long term, bispecific antibodies can increase the risk of infection and low blood counts. Dr. Joseph noted that clinicians have learned that when it comes to using these drugs, “less is more.” She then explained that once a patient responds to treatment, doctors typically extend the time between doses to make it easier on the immune system. Preventive measures, such as antibody infusions and antibiotics, can also support these efforts.

Next, Dr. Joseph emphasized the importance of putting patients first when using bispecific antibodies. Even though these drugs are effective and typically well-tolerated, treatment is an ongoing process, requiring routine visits, something she described as “a marathon, not a sprint.” 

Even so, these drugs make multiple myeloma treatment more accessible. Unlike CAR T-cell therapy, which is primarily offered at larger academic centers with the necessary infrastructure, bispecific antibodies can be administered at smaller facilities, like community treatment centers. 

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

To learn more about Dr. Joseph’s background and areas of expertise, visit: https://winshipcancer.emory.edu/profiles/joseph-nisha.php

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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Nisha Joseph, MD, Associate Professor in the Department of Hematology and Medical Oncology at the Emory University School of Medicine, discusses how bispecific antibodies are changing multiple myeloma treatment.

View the full interview at https://checkrare.com/how-bispecific-antibodies-are-changing-multiple-myeloma-treatment/

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Mirum Pharmaceuticals recently announced positive topline results from its phase 3 EXPAND study, evaluating Livmarli (maralixibat) for cholestatic pruritus in patients six months and older with ultra-rare cholestatic liver diseases. Jennifer Vittorio, MD, an EXPAND investigator, an Associate Professor of Pediatrics, and the Medical Director of Pediatric Liver Transplantation at NYU Langone Health, discusses the findings.

Cholestatic pruritus is an intense, chronic skin itch that occurs when bile acids and other pruritogenic substances in the bloodstream build up due to reduced or blocked bile flow from the liver. It’s a common symptom of ultra-rare cholestatic liver diseases, such as progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome (ALGS).

Although the primary symptom is a persistent itch, cholestatic pruritus can also cause scratching, irritability, disrupted sleep, fatigue, difficulty concentrating, and impaired school performance. These effects can also extend to parents and other family members, substantially impacting a patient’s quality of life.

Maralixibat is an orally administered, ileal bile acid transporter (IBAT) inhibitor approved by the US Food and Drug Administration (FDA) for treating cholestatic pruritus in two pediatric cholestatic liver diseases – in patients with ALGS three months of age and older, and in patients with PFIC 12 months of age and older.

Topline results from the phase 3 EXPAND study (NCT06553768) were announced on October 12, 2026. EXPAND is a phase 3, randomized, double-blind, placebo-controlled study evaluating the safety and efficacy of maralixibat, an oral solution in children aged six months and older and adults with cholestatic pruritus associated with ultra-rare cholestatic liver diseases. These diseases include biliary atresia and other rare conditions for which maralixibat currently isn’t approved.

EXPAND enrolled 52 patients, including 46 pediatric and six adult patients, who were randomized to receive maralixibat or placebo during a 20-week double-blind treatment period. The study met its primary endpoint, demonstrating a statistically significant reduction in cholestatic pruritus compared with placebo, and a substantial reduction in serum bile acids.

More specifically, maralixibat:

Improved cholestatic pruritus: Pediatric patients receiving maralixibat experienced a mean 1.81-point improvement in worst-daily itch severity scores from baseline, compared with a 0.83-point improvement among those receiving placebo. The placebo-adjusted treatment difference was 0.98 points (p=0.0004).

Reduced serum bile acids: Serum bile acid levels decreased by 70.1% from baseline among patients receiving maralixibat, compared with 3.5% among those receiving placebo, representing a 69% treatment effect versus placebo.

Safety findings were consistent with maralixibat’s previous clinical experience, with no new safety signals identified. Gastrointestinal adverse events were among the reported side effects, with diarrhea occurring in 64% of patients receiving maralixibat compared to 11.1% receiving placebo. Abdominal pain occurred in 20% versus 14.8%, respectively.

Mirum plans to submit a supplemental New Drug Application (sNDA) to the FDA in the first half of 2027 based on the EXPAND results. Dr. Vittorio shared that additional research is needed to assess the durability of treatment response, long-term safety and tolerability, and whether symptom improvement results in better daily functioning or longer native-liver survival.

“Our goal is to really recognize cholestatic pruritus earlier, treat it more effectively, improve quality of life, and if possible, help patients maintain their native liver for longer.” - Jennifer Vittorio, MD

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Naji Gehchan, MD, MBA, Chief Medical and Development Officer at Kyverna Therapeutics, discusses one-year data showing sustained benefits of KYV-101 (mivocabtagene autoleucel ; Miv-cel) in stiff person syndrome (SPS), along with longer-term follow-up data in generalized myasthenia gravis (gMG).

View the full interview at https://checkrare.com/miv-cel-shows-durable-results-in-stiff-person-syndrome-and-myasthenia-gravis/

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