XTalks

APRIL 24, 2023

Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday. How Can Study Protocols Be More Effective?

Gene Therapy 95

Gene Therapy Gene Trials Clinical Trials 95

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. The FDA remains committed to facilitating the development and approval of safe and effective therapies for patients affected by rare diseases — an area of critical need.”. The approval was granted to BridgeBio Pharma, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

XTalks

NOVEMBER 10, 2020

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 98

Genome Genomics Medicine Genetic Disease 98

XTalks

APRIL 15, 2021

A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved. Figure 1: The use of Mendelian randomization to validate genetic drug targets.

Development 98

Development Drugs Genome Genomics 98

The Pharma Data

NOVEMBER 24, 2020

PH1 is an ultra-rare genetic disease characterized by oxalate overproduction. About Primary Hyperoxaluria Type 1 (PH1) PH1 is an ultra-rare genetic disease that affects an estimated one to three individuals per million in the United States and Europe. Oxlumo should be administered by a healthcare professional.

FDA Approval 52

FDA Approval Production RNA Medicine 52