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Rare Discussions

Rare Discussions

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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.Yes Hygiène et vie saine Maladie et pathologies physiques
Épisodes
  • Spinal Muscular Atrophy: The Changing Definition of Success. An Expert Panel on the Evolution of SMA Care.

    Spinal Muscular Atrophy: The Changing Definition of Success. An Expert Panel on the Evolution of SMA Care.
    Jul 1 2026

    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.
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    53 min
  • FDA Approves Gazyva for Idiopathic Nephrotic Syndrome, Offering a New Treatment Option

    FDA Approves Gazyva for Idiopathic Nephrotic Syndrome, Offering a New Treatment Option
    Oct 16 2026
    Keisha L. Gibson, MD, MPH, pediatric nephrologist at the UNC School of Medicine, discusses the approval of Gazyva (obinutuzumab) for patients with childhood-onset idiopathic nephrotic syndrome (INS).

    INS is a rare, autoimmune kidney disease that is often managed by corticosteroids and/or mycophenolate mofetil. The disease and treatment however, is characterized by unpredictable relapses that cause fatigue, swelling, weight gain and increased susceptibility to infections and clotting. These flare-ups or relapses also lead to anxiety, depression and reduced self-esteem, brought on by the fear of relapse and social isolation. It is usually diagnosed in early childhood and is the most common form of primary glomerular disease in children.

    Obinutuzumab is a humanized type II anti-CD20 monoclonal antibody that binds to the CD20 antigen, a proven target for CD20+ B cells. It is the first treatment option for INS to be approved in 70 years. It is currently indicated to reduce the risk of relapse in adult and pediatric patients 2 years of age and older with frequently relapsing or steroid dependent childhood-onset INS who are in complete remission.

    The approval is based on results from the phase 3 INShore clinical trial (NCT05627557). More obinutuzumab-treated patients experienced no relapses after week 8 and were in complete remission at one year (95%) compared with mycophenolate mofetil (MMF) (73%). Analysis of key secondary endpoints showed statistically significant and clinically meaningful benefits with obinutuzumab with an increase in those with overall relapse-free survival, median time to first relapse or death, and fewer relapses from baseline to week 52, all compared with MMF. Additionally, no new safety signals were observed.

    This approval is significant to patients and families living with INS because it provides an alternative treatment option to daily oral medications and the toxicities associated with chronic steroid use.

    For more information on this approval, visit https://www.gene.com/media/statements/ps_092526 or https://checkrare.com/fda-approves-gazyva-obinutuzumab-for-treatment-of-childhood-onset-idiopathic-nephrotic-syndrome/

    To learn more about INS and other rare kidney conditions, visit https://checkrare.com/diseases/kidney-and-urinary-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.
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    9 min
  • Growth Hormone Deficiency: Causes, Early Detection, and Treatment (Robert Rapaport, MD)

    Growth Hormone Deficiency: Causes, Early Detection, and Treatment (Robert Rapaport, MD)
    Jun 8 2026
    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.
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    11 min
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