Rare Discussions

CheckRare Editors
  • 5.0 (3)
  • Medicine
  • Updated Daily

Conversations with the leaders advancing rare disease care.   Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and patient care across the rare disease landscape.   Whether highlighting groundbreaking therapies or sharing expert clinical perspectives, Rare Discussions highlights the experts who are shaping the future of rare disease medicine.

  1. 1d ago

    FDA CDER’s Accelerating Rare Disease Cures Program

    Paz Vellanki, MD, PhD, Vice President of Clinical Development at Precision for Medicine, discusses the FDA CDER’s Accelerating Rare Disease Cures (ARC) Program. The ARC Program was launched in 2022 with the goal of accelerating the development of safe and effective therapies for patients with high unmet need with rare diseases. The program has included a variety of initiatives, including several successful pilot programs, patient listening sessions, novel clinical trial design workshops, and a focus on patient-centric drug developments.  Dr. Vellanki explains that drug development for rare diseases is often more complex than common diseases, requiring a different approach from conventional trial designs, including the use of novel endpoints and biomarkers. To address these needs, the ARC Program’s initiatives encourage increased engagement between sponsors and the FDA to enhance formal meetings, an aspect that Dr. Vellanki says is important for small biotech companies who face challenges like small patient populations and complex endpoint selection. Recently, CDER issued a five-year strategic map for the ARC Program, defining what the program was and what stage it is currently in. It analyzes the pilot programs and metrics on success, determining next steps and how to continue efforts across the FDA. Proposed advances focus on strategies to advance scientific and regulatory innovations, expand novel trial tools, and streamline approval pathways for rare disease therapies. Dr. Vellanki notes that many of the ongoing initiatives are focused in specific disease areas, but there is hope for expansion across rare disease categories. To learn more about rare disease drug development, visit https://checkrare.com/drug-development/ 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.

    FDA CDER’s Accelerating Rare Disease Cures Program

  2. 1d ago

    Zilganersen for the Treatment of Alexander Disease

    Amy Waldman, MD, pediatric neurologist and Medical Director of the Leukodystrophy Center at the Children’s Hospital of Philadelphia, discusses the approval of Zanvastro (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/ 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.

    Zilganersen for the Treatment of Alexander Disease

  3. 1d ago

    What to Expect: 2026 MGFA Scientific Session

    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/ 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.

    What to Expect: 2026 MGFA Scientific Session

  4. 1d ago

    Topline Results From the SANRECO Trial Testing Divesiran in Polycythemia Vera

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

    Topline Results From the SANRECO Trial Testing Divesiran in Polycythemia Vera

  5. 1d ago

    Results From the Voice of PBC Patient Survey

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

    Results From the Voice of PBC Patient Survey

  6. 1d ago

    Approval of Imaavy (Nipocalimab) and its Impact on Patients With Warm Autoimmune Hemolytic Anemia

    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). wAIHA is a rare hematologic autoimmune condition characterized by antibodies that attack red blood cells and lead to hemolytic anemia. Symptoms may include unusual weakness and fatigue that make daily life difficult, tachycardia, breathing difficulties, jaundice, dark urine and/or splenomegaly. The cause of wAIHA is unknown. The US Food and Drug Administration (FDA) recently approved nipocalimab for the treatment of wAIHA in patients 12 years of age and older currently or previously treated with corticosteroids. Dr. Jones describes the approval as a major milestone that provides patients with treatment options and hope for the future of wAIHA. Nipocalimab is an immunoselective neonatal fragment crystallizable receptor (FcRn) blocker designed to target and reduce pathogenic immunoglobulin G (IgG)  autoantibodies while preserving B-cell function. It  is the first  FDA approved treatment for wAIHA. The approval was based on the pivotal phase 2/3 ENERGY study (NCT04119050), where patients treated with nipocalimab  demonstrated durable hemoglobin response. A mean increase in hemoglobin of 1 g/DL at week 1 and improvement in FACIT-Fatigue score at week 24 were also observed. Nipocalimab’s safety profile cwas onsistent with the established safety profile in generalized myasthenia gravis (gMG). The most common adverse reactions in patients with wAIHA treated with nipocalimab were peripheral edema, diarrhea, and fever. Dr. Jones hopes that this treatment approval will lead to greater recognition and understanding of wAIHA, especially among physicians. This in turn can help patients get earlier referrals to hematologists and diagnoses. Additionally, Dr. Jones and patients remain hopeful for further research and a greater awareness of symptom burden. For more information on the approval of nipocalimab, visit https://www.jnj.com/media-center/press-releases/fda-approves-imaavy-nipocalimab-aahu-as-first-ever-treatment-for-warm-autoimmune-hemolytic-anemia-waiha-representing-a-landmark-advancement-for-patients To learn more about wAIHA and other rare hematologic conditions, visit https://checkrare.com/diseases/hematologic-disorders/ 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.

    Approval of Imaavy (Nipocalimab) and its Impact on Patients With Warm Autoimmune Hemolytic Anemia

  7. Jul 1

    Spinal Muscular Atrophy: The Changing Definition of Success. An Expert Panel on the Evolution of SMA Care.

    Spinal muscular atrophy (SMA) has undergone a remarkable transformation over the past decade. Drs. Nancy Kuntz, Alicia Henriquez, and Angela Lek discuss how advances in disease-modifying therapies have fundamentally changed the outlook for children living with SMA, leading clinicians to rethink what constitutes a successful outcome in SMA care. Over the past decade, the management and treatment of spinal muscular atrophy (SMA) have been transformed, resulting in remarkable effects on young patients’ neuromuscular function status, mobility, and quality of life. These improvements would have been difficult to imagine just a few years ago and challenge clinicians, researchers, patients, and families to rethink what is defined as a successful outcome in SMA care.  According to Nancy Kuntz, MD, a child neuromuscular specialist from Lurie Children’s Hospital, Chicago, when before the use of newborn screening and the latest treatments, the main outcome of interest was prolonged patient survival. Today, achievable patient outcomes include sitting upright, and walking independently. This is a long way from the palliative view of SMA care. The use of standard measurement scales of patient outcomes need to keep up with evolving expectations of caregivers and patients.This will require objective data, like biomarkers, x-ray changes, and the ability to see significant changes in motor scale scores, focused on types of motor function that is important to patients. Alicia Henriquez, MD, a pediatric neuromuscular specialist from Seattle Children’s Hospital, pointed to one of the standard functional scales used in therapeutic clinical trials, the Hammersmith Functional Motor Scale Expanded (HFMSE). It is based on 33 distinct functional domains, but not all of those domains are of equal importance to patients and caregivers. And a change in HFMSE scale measurement may not be statistically significant for the purposes of clinical trials, but that incremental change in one domain may be highly important for the individual.  The scales do a better job of detecting major changes in function but not what those changes mean for patients.The Muscular Dystrophy Association (MDA) is helping to bring more light to this issue. Angela Lek, PhD, Chief Research Officer at the Association, described how MDA is sponsoring registry studies to collect real-world outcomes of individuals with SMA. This may result in patient-reported measures that may more-directly reflect improvements that patients believe are important.For more information on SMA visit https://checkrare.com/spinal-muscular-atrophy-a-decade-of-progress/ 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.

    Spinal Muscular Atrophy: The Changing Definition of Success. An Expert Panel on the Evolution of SMA Care.

  8. Jun 8

    Growth Hormone Deficiency: Causes, Early Detection, and Treatment (Robert Rapaport, MD)

    Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment. Growth failure in children is a considerable challenge for parents and pediatricians, with clinical and social stigma implications that may be avoided with early diagnosis. The most important issue in young patients with growth failure is to detect it early, according to Dr. Rapaport. “As soon as you see a major deviation from the [expected growth chart] norm, act on it, even at age 2,” he emphasized, “because we know that best outcomes result from early detection.” A growth failure diagnosis is delayed or underdiagnosed in minority groups; it is underdiagnosed in girls relative to boys. In most cases, children are referred to the Comprehensive Growth Center by pediatricians and primary care physicians, and it should be monitored from birth. Growth failure in children can be caused by growth hormone (GH) deficiency, malnutrition, celiac disease, pituitary tumor (which suppresses the release of growth hormone) or a very rare genetic deletion. Once the potentially nonendocrine causes of GH deficiency are excluded, then causes related to the hypothalamus–pituitary-thyroid axis should be investigated, said Dr. Rapaport.  Growth hormone stimulation testing and low blood levels of insulin-like growth factor (IGF) and IGF-binding protein concentrations can help confirm GH deficiency as the cause. However, low IGF-1 levels can also be caused by excessively high GH levels. In children diagnosed with GH deficiency, weekly GH injections are typically prescribed. In addition to monitoring these children for potential side effects of the GH injections, Dr. Rapoport recommended that they should undergo lab testing for IGF-1 blood concentrations every 3 to 6 months, until the bones fuse (signaling the conclusion of growth). 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.

    Growth Hormone Deficiency: Causes, Early Detection, and Treatment (Robert Rapaport, MD)
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About

Conversations with the leaders advancing rare disease care.   Rare Discussions is CheckRare's flagship interview podcast featuring conversations with leading physicians, researchers, patient advocates, and industry experts. These episodes explore advances in diagnosis, treatment, research, and patient care across the rare disease landscape.   Whether highlighting groundbreaking therapies or sharing expert clinical perspectives, Rare Discussions highlights the experts who are shaping the future of rare disease medicine.

Information

  • Creator
    CheckRare Editors
  • Years Active
    2020 - 2026
  • Episodes
    187
  • Rating
    Explicit
  • Copyright
    © Yes
  • Show Website
    Rare Discussions

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