XTalks

MARCH 3, 2021

The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

XTalks

NOVEMBER 10, 2023

Acute manifestations include thrombocytopenia, microangiopathic hemolytic anemia, bleeding episodes, headache and abdominal pain, while chronic ones include stroke, cardiovascular disease and damage to organs. As a rare disease, cTTP affects less than 1,000 individuals in the US.

FDA Approval 59

FDA Approval Gene Therapy Gene Clinical Trials 59

pharmaphorum

JANUARY 27, 2023

Late last year, pharmaphorum caught up with Dr Karen Mullen, chief medical officer and VP of clinical & medical affairs at global drug development consultancy Boyds. We talk a lot in clinical trials and drug development about benefit,” Dr Mullen said.

Clinical Trials 107

Clinical Trials Clinical Trials Trials Development 107

Delveinsight

AUGUST 17, 2021

The efficacy and safety results were produced from a broad research study, multicenter, open-label, randomized phase 3 trial data from the Keynote-581 trial of the first-line therapy indicated to the patients that resulted in an extension of their survival. The rarity of disease – 1.36 person/million around the globe.

FDA Approval 98

FDA Approval Medicine Vaccination Vaccine 98

The Pharma Data

OCTOBER 18, 2020

This study is the first to show that by increasing NAD + , NR helped protect telomeres which are important in addressing life-threatening telomere-related diseases, paving the way for future clinical research. The role of ChromaDex in this study was to provide NR through the ChromaDex External Research Program (CERP).

DNA 52

DNA Scientist Genetic Disease Research 52

The Pharma Data

NOVEMBER 11, 2020

Nasdaq: INZY), a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue and skeleton, today reported financial results for the third quarter ended September 30, 2020 and provided recent business highlights.

Clinical Trials 40

Clinical Trials Clinical Trials Trials Development 40

XTalks

APRIL 15, 2021

Experts from Servier and Genuity Science recently spoke on a webinar about using genomics data to drive drug development in heart failure and identify new targets for novel therapeutics. The reverse could also be true whereby the development of coronary artery disease may impact heart rate. HFrEF vs. HFpEF.

Development 98

Development Drugs Genome Genomics 98

The Pharma Data

NOVEMBER 2, 2020

President Worldwide Research and Development at BioMarin. “Our extensive development program has been focused on addressing the underlying cause of achondroplasia. “We advocate for rigorous scientific and medical research to improve the quality of medical care for little people.” and Europe. In the U.S.,

Drugs 40

Drugs Containment Trials Marketing 40

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. My daughter was born at 30 weeks and spent her first month in intensive care. We have a very powerful voice.

Genome 87

Genome Genomics Genetics Genome Project 87

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. My daughter was born at 30 weeks and spent her first month in intensive care. We have a very powerful voice.

Genome 74

Genome Genomics Genetics Genome Project 74

The Pharma Data

AUGUST 15, 2021

The WELIREG label contains a boxed warning that exposure to WELIREG during pregnancy can cause embryo-fetal harm. About Von Hippel-Lindau Disease. This is a rare genetic disease with an estimated incidence of 10,000 people in the U.S. As an inhibitor of HIF-2?, WELIREG reduces transcription and expression of HIF-2?

Hormones 52

Hormones Clinical Trials Clinical Trials Trials 52

XTalks

DECEMBER 13, 2023

In 2023, biotechnology and pharmaceutical companies leverage cutting-edge technology and significant investments in research and development (R&D) to continue pushing the boundaries of innovation in the healthcare sector, transcending the challenges posed by the pandemic.

Genetics 111

Genetics Vaccination Vaccine DNA 111

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells through epigenetic editing without altering the genetic sequence itself. Epigenetic Editing with CRISPR. pyogenes dCas9.

DNA 98

DNA Gene Gene Silencing Genome 98

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells without editing the genetic sequence itself. The research was published earlier this month in the journal Cell. pyogenes dCas9.

DNA 52

DNA Gene Gene Silencing Genome 52

The Pharma Data

JULY 6, 2021

Data will include the final analysis from the phase IIIb STASEY study of Hemlibra® (emicizumab) and updated data from the phase I/II study of SPK-8011, an AAV-based gene therapy in development by Spark Therapeutics (a member of the Roche Group). Roche’s Chief Medical Officer and Head of Global Product Development.

Gene Therapy 52

Gene Therapy Gene Clinical Trials Clinical Trials 52

The Pharma Data

DECEMBER 3, 2020

The majority of patients were able to complete commonly used cognition assessments including either the BSID-III (Bayley Scales of Infant and Toddler Development) or the WPPSI-IV (Wechsler Preschool and Primary Scale of Intelligence Fourth Edition), indicating that these measures are valid and appropriate for use in patients with Dravet syndrome.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

The Pharma Data

OCTOBER 14, 2020

is a clinical-stage biopharmaceutical company developing novel RNA-modulating drug candidates (designed to be eukaryotic ribosomal selective glycosides) that are formulated to treat rare and ultra-rare premature stop codon diseases. These premature stop codons have been identified in over 1,800 rare and ultra-rare diseases.

Protein 52

Protein RNA Production Genetics 52

The Pharma Data

AUGUST 3, 2021

SMA is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement. Source link: [link] /.

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Trials 52

The Pharma Data

JANUARY 25, 2021

BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio’s pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development.

Sales 52

Sales Marketing Development Containment 52

The Pharma Data

OCTOBER 28, 2020

NASDAQ: RARE), companies partnered in the development of intrathecally administered GTX-102, an investigational treatment for Angelman syndrome, today announced positive interim data from the Phase 1/2 study of GTX-102. The company is led by a management team experienced in the development and commercialization of rare disease therapeutics.

Protein 40

Protein Production Development Drugs 40

The Pharma Data

JANUARY 9, 2021

Boxer, MD Research Professor of Pediatrics and Communicable Diseases Department of Pathology Michigan Medicine at the University of Michigan and investigator in the Phase 3 study. President of Worldwide Research and Development at BioMarin. President of Worldwide Research and Development at BioMarin.

Gene Therapy 52

Gene Therapy Gene Trials Clinical Trials 52

The Pharma Data

SEPTEMBER 22, 2020

Trial design and other details are being evaluated and a comprehensive update on the overall Novartis SMA clinical development program will be provided at a future time following further discussions with health authorities. This guidance provides clarity on the path to registration for AVXS-101 IT.

Clinical Development 52

Clinical Development Gene Therapy Development Gene 52