Clinical TrialsInformation and insight on the latest clinical trials
- 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.
- The Role of IL-12 in Anti-PD-1 Therapies with TAVO
Dan O’Connor, President, Director and Chief Executive Officer of OncoSec discusses his company and it’s focus on developing cytokine-based intratumoral immunotherapies to stimulate the body’s immune system to target and attack cancer.
- Biallelic RPE65 Mutation-Associated Retinal Dystrophy
Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses biallelic RPE65 mutation-associated retinal dystrophy, a rare retinal disorder.
- Primary Hyperoxaluria Type 1: Overview and an Emerging Treatment
Pushkal Garg, MD, Chief Medical Officer at Alnylam discusses Primary Hyperoxaluria Type 1 and his company’s investigational RNAi therapy, lumasiran.