Clinical TrialsInformation and insight on the latest clinical trials
- Rising to the Challenge: Developing New Medicines for Rare Disease
The process for researching and developing new medicines is notoriously time-consuming, complicated and costly – and even more so when it comes to therapies for rare diseases.
- Dup15q Research: The ARCADE Trial
Vanessa Vogel-Farley, Executive Director of the Dup15q Alliance, discusses research in this rare disease, including the ARCADE trial, a phase 2 open-label pilot study.
- Mucopolysaccharidosis Type II (MPS II), Hunter Syndrome
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
- Usher Syndrome Overview
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
- Michael E. Shy, MD: Natural History, Biomarkers, and Gene Identification
Michael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification during the Rare Disease Day at NIH 2019 on Thursday, February 28, 2019.
- Novel Approach to Gene Therapy for Sickle Cell Disease Shows Promise
Erica B. Esrick, MD, Hematologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center reported on her pilot trial in which one adult patient with Sickle Cell disease (SCD) received an infusion of his own stem cells in which a genetic “switch” was flipped on to induce the cells to both start producing healthy hemoglobin and stop producing unhealthy “sickle” hemoglobin.
- Hereditary TTR Amyloidosis and the NEURO-TTR Study
Morie Gertz, MD, Hematologist and Chair of Internal Medicine at Mayo Clinic discussed the current unmet needs in the treatment of hereditary TTR amyloidosis, antisense technology, inotersen, and the NEURO-TTR study.
- Children’s Tumor Foundation and Its Focus on Neurofibromatosis
Annette Bakker, President and Chief Scientific Officer of the Children’s Tumor Foundation, discusses neurofibromatosis (NF), a genetic disorder that affects 1 in every 3,000 people.
- Breakthrough Designation for Idiopathic Pulmonary Fibrosis Therapy
The U.S. Food and Drug Administration (FDA) granted PRM-151, a novel investigational anti-fibrotic immunomodulator, Breakthrough Therapy designation for Idiopathic Pulmonary Fibrosis (IPF).
- KEYNOTE-695 Study of TAVO + Keytruda in Refractory Metastatic Melanoma
Dan O’Connor, President, Director and Chief Executive Officer of OncoSec discusses the KEYNOTE-695 Study of TAVO + Keytruda in Refractory Metastatic Melanoma.