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, which has a regulatory action date of May 29, 2023.

Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy. It is caused by mutations in the DMD gene that lead to loss of dystrophin and progressive muscle loss. Symptoms of muscle loss most often appear between the ages of 3 to 5 years, and most children with this disease will be wheelchair dependent by their early teens.

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 deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.

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 relapse risk in adults with anti-aquaporin-4 (AQP4) antibody-positive (Ab+) neuromyelitis optica spectrum disorder (NMOSD).

NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.

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 treat people with hemophilia A.

Hemophilia A is a rare bleeding disorder due to a lack of factor VIII. Hemophilia A occurs mostly in males. People with hemophilia A can experience bleeding episodes that can cause pain, irreversible joint damage and life-threatening hemorrhages. Factor replacement therapy remains a cornerstone of care and can be used across multiple treatment scenarios.

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 early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.

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 patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.

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 performing daily activities, such as walking and talking. Currently, there is no pharmacological cure for IPF with neither of the approved two therapies demonstrating an ability to stop the progression of the disease.

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 definition for rare disease. Getting an accurate count is important in order to represent the full spectrum of the rare disease community and describe the true socioeconomic impact on the lives of patients, families, and society.

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 activity, please visit https://checkrare.com/learning-center/courses/

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 myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line, and subsequent, therapies.