Rare Disease Discussions

A group of leading experts in pediatric neurology and movement disorders attended a virtual roundtable to discuss diagnostic, symptomatic, and research aspects of aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is characterized by a defect in the dopa decarboxylase or DDC gene; this dysfunction leads to reduced production of the critical neurotransmitters dopamine, norepinep...

This accredited CME activity, led by Carlos De Castro, MD, Professor of Medicine, Duke Hematologic Malignancies Clinic, highlights the latest information about paroxysmal nocturnal hemoglobinuria (PNH) presented at ASH 2021 and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients they may encounter with this rare condition. PN...

Karuppiah Kannan, Senior Director - Global Program Leader at Takeda Pharmaceuticals, discusses early results of a phase 1/2 study evaluating subasumstat (TAK-981) in combination with rituximab in multiple subsets of CD20-positive relapsed/refractory non-Hodgkin lymphoma including diffuse large B-cell lymphoma (DLBCL), mantle cell lymphoma (MCL), follicular lymphoma (FL) and marginal zone lymphoma...

Jerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, gives an update on the phase 2 trial testing SYNB1618 to treat phenylketonuria (PKU). PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, which can cause significant organ damage, e...

This accredited CME activity, led by David Kronn, MD, Associate Professor of Pathology and Pediatrics at New York Medical College, is the fourth module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will focus on hemoglobinopathies and newer disorders which are part of the Recommended Uniform Screening Panel (RUSP) in order to b...

This accredited CME activity, led by Jerry Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at the University of Pittsburgh, is the third module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will focus on metabolic diseases which are part of the Recommended Uniform Screening Panel (RUSP) in order to better prepare clinic...

This accredited CME activity, led by David Kronn, MD, Associate Professor of Pathology and Pediatrics at New York Medical College, is the second module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will focus on how to talk to parents about positive NBS results. Supported by an educational grant from bluebird bio Inc. and Ultra...

This accredited CME activity, led by Jerry Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at the University of Pittsburgh, is the first module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will provide clinicians with the fundamentals of newborn screening. Supported by an educational grant from bluebird bio Inc. and Ul...

This accredited CME activity, led by Rachael Grace, MD, Associate Professor, Harvard Medical School, highlights the latest research about pyruvate kinase (PK) deficiency presented at ASH 2021 and 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. PK deficiency is a rare blood disease due t...

Jeffrey A. Zonder, MD, Hematologist-Oncologist from the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, describes the treatment landscape for 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 blo...

Phillip Moreau, MD, PhD, Head of the Hematology Department at the University Hospital Phillip Moreau, MD, PhD, Head of the Hematology Department at the University Hospital Hôtel-Dieu, discusses the updated results from MajesTEC-1, a phase 1/2 study of teclistamab in relapsed/refractory multiple myeloma. These results were recently presented at The American Society of Hematology Meeting & Expositio...

Drs. Ozlem Goker-Alpan and Swati Sathe discuss how our growing awareness of the central symptoms and comorbidities associated with many lysosomal storage diseases is changing how we manage these rare diseases. This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics. To obtain credit for this activity, please visit https:...

This accredited CME activity, led by Jonathan Bernstein, MD, Professor of Medicine at the University of Cincinnati, provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy, Asthma, & immunology 2021 Annual Scientific Meeting (ACAAI 2021). Since to the Covid-19 pandemic limited the ability for ACAAI members to commit fully...

Paolo Ghia, MD, PhD, Professor at the Università Vita-Salute San Raffaele, Milan, Italy, discusses the updated, long-term data from the phase 2 CAPTIVATE study. This study evaluated ibrutinib plus venetoclax as a first-line treatment for chronic lymphocytic leukemia (CLL); data from this trial was recently presented at the American Society of Hematology Meeting & Exposition (ASH 2021).

Jeffrey Neul, MD, PhD, Professor of Pediatrics at Vanderbilt University Medical Center, discusses recent top-line results from a phase 3 trial testing trofinetide to treat children with Rett syndrome. Trofinetide is an analog of insulin-like growth factor 1 (IGF-1) and it is speculated that the orphan drug can restore homeostasis of neuronal signaling in diseases such as Rett syndrome. ​​Rett synd...

Jeffrey A. Zonder, MD, hematologist-oncologist at the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, discusses data from the first-in-human study testing REGN5458 as a monotherapy for relapsed/refractory multiple myeloma patients (NCT03761108). Data from the phase 1 portion of this study were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021). Mul...

Arnon Kater, MD, PhD, Professor of Internal Medicine in the Faculty of Medicine at the University of Amsterdam discusses new data from the GLOW study of ibrutinib plus venetoclax (I+V) in elderly or unfit chronic lymphocytic leukemia (CLL) patients. The data were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021). CLL is a rare blood cancer resulting in a buil...

Anne Pariser, MD, Director of the NCATS’ Office of Rare Diseases Research (ORDR), provides an overview of the ORDR and the research they are involved with. The ORDR is focused on multiple programs to improve the efficacy of rare disease research. Their two largest programs are the Rare Diseases Clinical Research Network (RDCRN) and the Genetic and Rare Diseases Information Center (GARD). RDCRN pro...

Drs. Ozlem Goker-Alpan and Uma Ramaswami discuss how the success of therapies to treat lysosomal storage disorders like Pompe disease, Gaucher disease, and various MPSs, has created phenotypes that previously did not exist. This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics. To obtain credit for this activity, pleas...

Alan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives an update on their congenital ichthyosis clinical trial. Congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Currently, there...

Alan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives a detailed overview of congenital ichthyosis. As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections....

Avanish Vellanki, Cofounder and CEO at Rain Therapeutics, discusses the role of p53 and MDM2 in cancers like liposarcoma, the mechanism of action of milademetan, and the positive pre-clinical data presented at the 2021 World Conference of Lung Cancer. As Mr. Vellanki explains, p53 regulates the cell cycle and is essential for tumor suppression. MDM2 is a crucial regulator of p53. If MDM2 is overex...

Daniel Lovell, MD, MPH, Associate Director of the Division of Rheumatology at Cincinnati Children's Hospital Medical Center, gives an overview of juvenile idiopathic arthritis (JIA). As Dr. Lovell explains, JIA is an umbrella term for a number of diseases in individuals under the age of 16 and characterized by chronic arthritis that persists for at least 6 weeks. There are currently seven recogniz...

Drs Ozlem Goker-Alpan and Gregory Grabowski discuss how new research into the pathophysiology of lysosomal storage diseases is changing how we manage these rare diseases. . This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics. To obtain credit for this activity, please visit https://checkrare.com/learning-center/cours...

Roman Groisberg, MD, Medical Oncologist and Director of the Sarcoma Program at Rutgers Cancer Institute of New Jersey/RWJBarnabas Health, gives an overview of sarcomas.