Rare Disease Discussions

Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of the importance of newborn screening for spinal muscular atrophy (SMA). This CME activity is possible through an educational grant from AveXis. To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module3-...

Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to treat spinal muscular atrophy (SMA). This CME activity is possible through an educational grant from AveXis. To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module2-managing-sma/

Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to diagnose spinal muscular atrophy (SMA). This CME activity is possible through an educational grant from AveXis. To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module1-diagnosing-sm...

Edward M Wolin, MD, Professor of Medicine from the Icahn School of Medicine at Mount Sinai provides an overview of neuroendocrine tumors research highlights presented at ENDO 2020. This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc. To obtain credit for this activity, please visit https://checkrare.com/learning/p-endo2020-neuroendocrine-tumors-nets-abstra...

Judy Shizuru, MD, Blood and Marrow Transplant Specialist, Stanford University School of Medicine, discusses clinical data from an ongoing phase 1 trial of JSP191 in patients with severe combined immune deficiency (SCID). SCID is a group of inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells. Common symptoms include an increased susceptibility...

Michel Michaelides, MD, of UCL Institute of Ophthalmology; Moorfields Eye Hospital provides an overview of X-linked retinitis pigmentosa (XLRP), including its symptoms, common treatments, as well as a summary of the latest interim data from the MGT009 trial.

Maurice Ohayon, MD, PhD, Professor of Psychiatry and Behavioral Sciences at Stanford University summarizes key research on narcolepsy presented at the American Academy of Neurology (AAN) 2020 annual meeting. To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-narcolepsy-abstract-highlights-from-aan-2020/

Michael Levy, MD, PhD, Associate Professor, Harvard Medical School summarizes key research on neuromyelitis optica spectrum disorder (NMOSD) presented at the American Academy of Neurology (AAN) 2020 annual meeting. To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-nmosd-abstract-highlights-from-aan-2020/

Paul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four part learning program. MPS I meets all the criteria to be part of newborn screening panel, and is included in the Federal Government’s Recommended Uniform Screening Panel (RUSP). As the number of states that include MPS I in the panel increases, clinicians need to be recognize th...

Mucopolysaccharidosis I (MPS I) follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explo...

Paul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four-part CME/CE series. Without treatment, the prognosis for individuals with Mucopolysaccharidosis I (MPS I), especially the more severe form of the disease, is discouraging. Early access to treatment is also important in order to reduce disease damage and progression. In this modul...

Paul Orchard, MD from the University of Minnesota Medical School discusses early symptoms for Mucopolysaccharidosis I (MPS I), especially in those with the attenuated form of the disease,. Since this progressive disease has a treatment that can slow progression, it is imperative that clinicians recognize symptoms early so a correct diagnosis can be made. In this module, our faculty educator will e...

Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I (MPS I). MPS I follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s fu...

Peter Tebben, MD, of the Department of Pediatric and Adolescent Medicine, and Assistant Professor of Medicine at the Mayo Clinic in Rochester, MN provides an overview of tumor-induced osteomalacia (TIO).

Recently, the US Food and Drug Administration (FDA) provided clearance to proceed with a Phase 2 clinical trial assessing HST5040 to treat children with propionic acidemia and methylmalonic acidemia, two rare inborn error of metabolism conditions that currently have limited treatment options. We talked with one of the principal investigators of the study, Marshall Summar, MD, Division Chief, Genet...

Cyndi Frank, of the Gaucher Community Alliance explains her long diagnostic journey.