Rare Disease Discussions

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...

This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center, highlights the current trends in gene therapy for lysosomal storage diseases as well as some of the safety concerns with such therapy. At the end of th...

This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center, highlights the current trends in gene therapy for lysosomal storage diseases as well as some of the safety concerns with such therapy. At the end of th...

This 30-minute CME program highlights new treatment options that are available for persons with Cushing’s disease. Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities. The program featur...

This 30-minute CME program highlights best practices to diagnose Cushing’s disease and to manage the comorbidities commonly observed in persons with this rare disorder. Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the diseas...

This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Neal J Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics, University of Miami Miller School of Medicine, highlights how enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) for lysosomal storage disorders have tr...

Barry S. Ticho, MD, PhD, Chief Medical Officer at Stoke Therapeutics, gives a detailed overview of Dravet syndrome. As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Moderate to sever...

Larry J Bauer, Senior Regulatory Drug Expert from Hyman, Phelps, & McNamara PC, a dedicated food and drug law firm, discusses the history and purposes of patient-focused drug development (PFDD) meetings. As Mr. Bauer explains, PFDD meetings are designed to engage patients and learn their perspectives on the most significant symptoms of their condition and the impact of the condition on daily life,...

Michael L. Wang, MD, Professor, Department of Lymphoma & Myeloma at the University of Texas MD Anderson Cancer Center, discusses results of the phase 3 SHINE study which evaluated the safety and efficacy of ibrutinib in combination with bendamustine and rituximab in patients 65 years of age or older with newly diagnosed mantle cell lymphoma. These data were recently presented at the American Socie...

Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating nor...

This accredited CME activity, led by Satheesh Chonat, MD, Assistant Professor at Emory University School of Medicine and hematologist-oncologist at the Pediatric Hematology Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, highlights the latest real world data focused on paroxysmal nocturnal hemoglobinuria (PNH). Dr Chonat also provides expert analysis of the data’s clinic...

Giacomo Chiesi, MBA, Head of Chiesi Global Rare Diseases, discusses a white paper titled, "The Burden of Rare Diseases: An Economic Evaluation," based on the results of a study which demonstrate that rare diseases impose substantial economic burden which can be reduced with availability of approved treatments. As Mr. Chiesi explains, the goals of the study were to qualify the macroeconomic societa...

Ozlem Goker-Alpan, MD, Founder and Chief Medical Officer at Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and discusses the latest develops in biomarker research and how biomarkers can improve how patients with lysosomal disorders, such as Gaucher disease and Fabry disease, are managed. To obtain CME/CE credit for this program, go to www.checkrare.com Support for this educational...

This accredited CME activity, led by Paula Busse, MD, Associate Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American Academy of Allergy, Asthma, & immunology 2022 (2022 AAAAI) Annual Meeting. Since to the Covid-19 pandemic limited the ability for AAAAI members to commi...

Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, provides an extensive overview of mucopolysaccharidosis type I (MPS I), also known as Hurler syndrome. In this interview, Dr. Wang explains this rare condition, including its pathophysiology, prevalence, and natural progression. He also discusses...

Steve Pakola, MD, Chief Medical Officer for Regenxbio, discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium 2022. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down g...

Juan Roman, Vice President at Krystal Biotech, gives an overview of dystrophic epidermolysis bullosa (DEB). As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode very easily. The signs and symptoms of DEB vary widely among affected people. In mild cases, blistering may primarily affect the hands, fee...

Edward Neilan, MD, PhD, Chief Scientific and Medical Officer at the National Organization for Rare Disorders (NORD), discusses the organization’s recently established Rare Disease Centers of Excellence. As Dr. Neilan explains, there were two main goals when establishing a national network of rare disease centers. The first goal was to help rare disease patients find medical centers that have deep...

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 positive long-term results from the phase 3 HOPE-B clinical trial evaluating etranacogene dezaparvovec (EtranaDez), an investigational gene therapy for hemophilia B. Hemophilia B is a congenita...

Jeffrey L. Neul, MD, PhD, Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education at Vanderbilt University Medical Center, gives an overview of Rett syndrome. As Dr. Neul explains, ​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of l...

Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, discusses RGX-111, an investigational gene therapy for mucopolysaccharidosis type I (MPS I). Data from this study was recently presented at WORLDSymposium 2022. MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme,...

James Howard Jr., MD, Distinguished Professor of Neuromuscular Disease and Professor of Neurology and Medicine at UNC School of Medicine, reviews the treatment landscape for myasthenia gravis. Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expre...

A group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia. This roundtable discussion features perspectives from advocates, experts, and families living with Type 1 galactosemia. Galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting...

This accredited CME activity, led by Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine highlights the latest research about Mucopolysaccharidosis type II (MPS II; Hunter syndrome) presented at WORLDSymposium 2022 and provides expert analysis of its clinical relevance for busy members of the care team to help them care for patients they may encounter...

This accredited CME activity, led by Gregory Grabowski, MD, Professor Emeritus at University of Cincinnati College of Medicine highlights the latest research about Gaucher disease presented at WORLDSymposium 2022 provides expert analysis of its clinical relevance for busy members of the care team to help them care for patients they may encounter with this rare condition. Gaucher disease is a genet...