Rare Disease Discussions

Raymond Douglas, MD, PhD, a world-leading clinician and thought leader in thyroid eye disease (TED) who has been integral to developing therapeutics for the disease, provides an overview of TED, including diagnosis challenges and current and emerging treatments for this rare disease. TED is a rare autoimmune disease that can dramatically impact a person’s vision. The condition often occurs in peop...

This 30-minute CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction. Treatment of myasthenia gravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently four drugs approved by the FDA, eculizumab, efgartigim...

This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. Speakers Ozlem Go...

Sindhu Ramchandren, MD, Global Clinical Leader at Janssen Pharmaceuticals, explains the pathophysiology of myasthenia gravis and the need for more targeted therapies. Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and s...

Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while th...

Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while th...

Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while th...

Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while th...

This 30-minute CME program highlights the latest clinical research about Fabry disease, is a rare X-linked lysosomal disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially li...

Lisa Borland, Vice President of Global Medical Affairs at Sarepta Therapeutics, discusses the clinical development program evaluating the safety and efficacy of SRP-9001, an investigational gene transfer therapy for Duchenne muscular dystrophy. Data from this program supported the U.S. Food and Drug Administration’s decision to accept and file a Biologics License Applications (BLA) for SRP-9001, w...

This 15-minute CME program highlights the latest clinical research about Growth Hormone Deficiency (GHD) and is hosted by a leading expert in GHD, Paul Saenger, of the Albert Einstein College of Medicine. GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or dece...

Sean J. Pittock, MD, Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo's Neuroimmunology Laboratory discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Congress. The results showed that treatment with ravulizumab-cwvz significantly reduced rela...

Steven Pipe, MD, Professor of Pediatrics and Pathology, and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan, discusses the recent announcement of efanesoctocogg alfa being given breakthrough and priority review status by the U.S. Food and Drug Administration (FDA). Efanesoctocog alfa is a recombinant factor VIII therapy in development to...

Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history on newborn screening. Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated earl...

Angela Scheuerle, MD, Medical Geneticist at the UT Southwestern Medical Center, discusses National Organization for Rare Disorders’ (NORD) Rare Disease Centers of Excellence of which UT Southwestern is one. There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease pa...

Eric LeFebvre, MD, Chief Medical Officer at Pliant Therapeutics, discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF). IPF is a chronic, progressive, fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performin...

Kirk Lamoreaux, Senior Healthcare Strategist, discusses ‘The Power of Being Counted,’ a report that was recently announced an estimated 10,867 rare diseases are known. As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to determine a more accurate count of the actual number of rare diseases. Determining this number is difficult, largely due to the lack of a global defi...

This CME program, hosted by Richard Auchus, MD, PhD Professor at the University of Michigan, provides an overview of the latest clinical research presented at the Endocrine Society Annual Meeting that involved Cushing’s disease and Cushing’s syndrome. Educational Support for this activity was provided by Xeris Pharmaceuticals, Inc and Recordati Rare Diseases, Inc. To receive credit for this activi...

Ajay K. Nooka, MD, Associate Professor of Hematology and Medical Oncology at Emory School of Medicine, discusses the updated efficacy and safety results from the phase 1/2 MajesTEC-1 study evaluating teclistamab in patients with relapsed or refractory multiple myeloma. Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as...

This CME program highlights the latest clinical research about pulmonary arterial hypertension (PAH). PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience on...

Dr. Harrison Farber, a pulmonologist and director of the Pulmonary Embolism Response Team at Tufts Medical Center discusses a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to function. Pulmonary Arterial Hypertension, or PAH, is characterized by shortness of breath, dizziness, and chest pressure. Dr. Harrison Farber joins us to...

This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and guest lecturer, Oral Alpan, MD, of Amerimmune in McLean, VA, provides an overview of our current understanding of the immune system in the pathophysiology and management of lysosomal disorders. At the end of this activity, participants should be...

This 15-minute CME program highlights the latest clinical research about Growth Hormone Deficiency (GHD) and is hosted by a leading expert in GHD, Paul Saenger, of the Albert Einstein College of Medicine. GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or dece...

Guillaume Canaud, MD, PhD, of the Paris Descartes University, explains why it is important to regularly measure objective outcomes in persons with PiK3CA-related overgrowth syndrome (PROS). PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by gain of function mutations in the PIK3CA gene. Specific disorders under the umbrella of PROS incl...

Sean J. Pittock, MD, Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo's Neuroimmunology Laboratory discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Congress. The results showed that treatment with ravulizumab-cwvz significantly reduced rela...