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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

Pharmaceutical companies and biotechs are also adapting their approaches, launching patient finding and engagement programmes that can start years before clinical trials begin and allow them to run ‘recontact by genotype’ studies that the Resilience Project would have liked to do. Giving participants something in return.

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BridgeBio Pharma’s Nulibry Approved as First Treatment for Molybdenum Cofactor Deficiency Type A

XTalks

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. In the analysis involving 31 patients, 13 were treated with Nulibry and compared to 18 genotype-matched untreated patients from the history control group. The approval was granted to BridgeBio Pharma, Inc.

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10 Key Learnings from Successful Cellular and Gene Therapy Trials for Rare Diseases

XTalks

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.

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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

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. HS: Absolutely.

Genome 98
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HFpEF vs. HFrEF: How To Improve Heart Failure Drug Development

XTalks

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. Using Deep Clinical Data and WGS to Better Subtype Heart Failure Patients. Genuity Science Drug Target Discovery Study.

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FDA Approves Oxlumo (lumasiran) for the Treatment of Primary Hyperoxaluria Type 1

The Pharma Data

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.