Containment, Genetic Disease, Medicine and Research

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

pharmaphorum

JANUARY 18, 2023

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Why should research be any different?

Genetic Disease

Genetic Disease Genetics Research Genome

New research begins to write the rules on CRISPR activation

Drug Discovery World

MARCH 21, 2023

UK researchers, from the Wellcome Sanger Institute and collaborators, have used human stem cells and neurons to investigate what features influence how well CRISPR activation works for different sets of genes. The post New research begins to write the rules on CRISPR activation appeared first on Drug Discovery World (DDW).

Research

Research Gene Gene Editing Genome

FDA approval to Keytruda and Lenvima; FibroGen’s Roxadustat; Pfizer’s TICOVAC; Ipsen’s Palovarotene; Jazz Pharma’s Xywav; Seagen-RemeGen’s Cancer Medicine

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

FDA Approval Medicine Vaccination Vaccine

Trends in Human Health Management: A Journey through Time

Roots Analysis

FEBRUARY 26, 2024

Literary and archaeological evidences suggest that diseases have plagued living organisms since the beginning of time. Whether it was a common cold or a genetic disease, prayers and sacrifices to the gods were the only hope of a remedy at such times.

Genetics

Genetics Medicine Genetic Engineering Genetic Disease

FDA Approves Imcivree (setmelanotide) for Chronic Weight Management in Patients with Obesity Due to POMC, PCSK1 or LEPR Deficiency

The Pharma Data

NOVEMBER 27, 2020

Nasdaq:RYTM), a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic diseases of obesity, announced today that the U.S. With this approval, Imcivree becomes the first-ever FDA approved therapy for these rare genetic diseases of obesity. BOSTON, Nov.

FDA Approval

FDA Approval Genetic Disease Genetics Clinical Trials

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

XTalks

AUGUST 6, 2020

Epidiolex is the only FDA-approved formulation that contains CBD derived from the cannabis plant. CBD is the most abundant non-psychoactive cannabinoid compound found in the cannabis plant, making up about 40 percent of the plant’s extract, which contains over 100 different cannabinoid compounds.

FDA Approval

FDA Approval Protein Containment Genetic Disease

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

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.

Gene Therapy

Gene Therapy Gene Trials Clinical Trials

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

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. Today’s action marks the first FDA approval for a therapy to treat this devastating disease,” said Hylton V. Molybdopterins are a class of cofactors found in most molybdenum-containing and all tungsten-containing enzymes.

FDA Approval

FDA Approval Genotype Clinical Trials Clinical Trials

Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP

XTalks

NOVEMBER 10, 2023

Treatments for cTTP includes prophylactic plasma-based therapy for individuals with chronic disease to reduce the risk of clotting/bleeding by restoring the low amounts or absence of the ADAMTS13 enzyme. For prophylactic ERT, Adyznma is given to help reduce the risk of disease symptoms.

FDA Approval

FDA Approval Gene Therapy Gene Clinical Trials

Patient centricity and the changing pharmaceutical vista

pharmaphorum

JANUARY 27, 2023

Developing medicines – for people living with disease Dr Mullen’s current role involves providing medical monitoring support, as well as safety, pharmacovigilance, scientific, and medical advice across a range of client projects, including advanced therapies and orphan drugs.

Clinical Trials

Clinical Trials Clinical Trials Trials Development

Food and Drug Administration Accepts BioMarin’s New Drug Application for Vosoritide to Treat Children with Achondroplasia

The Pharma Data

NOVEMBER 2, 2020

President Worldwide Research and Development at BioMarin. “We advocate for rigorous scientific and medical research to improve the quality of medical care for little people.” ” Growing Stronger’s mission is to improve the quality of medical care for people through supporting research. and Europe.

Drugs

Drugs Containment Trials Marketing

Searching for answers in rare epilepsy

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. It’s essential to have hope in the future and in the promise that genomic medicine can bring.”.

Genome

Genome Genomics Genetics Genome Project

Inozyme Pharma Reports Third Quarter 2020 Financial Results and Provides Business Highlights

The Pharma Data

NOVEMBER 11, 2020

. Submitted Clinical Trial Application (CTA) for INZ-701 for the treatment of ENPP1 deficiency – Inozyme recently submitted its first CTA to initiate a Phase 1/2 clinical trial of INZ-701 for the treatment of ENPP1 deficiency to the United Kingdom’s Medicines and Healthcare products Regulatory Agency (MHRA).

Clinical Trials

Clinical Trials Clinical Trials Trials Development

Searching for answers in rare epilepsy

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. It’s essential to have hope in the future and in the promise that genomic medicine can bring.”.

Genome

Genome Genomics Genetics Genome Project

Hypoxia-Inducible Factor-2 Alpha (HIF-2?) Inhibitor WELIREG™ (belzutifan) for the Treatment of Patients With Certain Types of Von Hippel-Lindau (VHL) Disease-Associated Tumors

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

Hormones Clinical Trials Clinical Trials Trials

Top 10 Fastest Growing Biotech Companies in 2023

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

Genetics Vaccination Vaccine DNA

Stoke Therapeutics Announces Presentations Related to the Company’s Work to Advance STK-001, the First Potential New Medicine to Target the Underlying Cause of Dravet Syndrome at the American Epilepsy Society (AES) 2020 Annual Meeting

The Pharma Data

DECEMBER 3, 2020

Initial results from the study show significantly diminished neurocognitive abilities in children with Dravet syndrome such that 10 year-olds are functioning below the level of a healthy 1 year-old even while they are being treated with available anti-epileptic medicines. Translational Research / 2B. Devices, Technologies, Stem Cells.

Medicine

Medicine Genetics Clinical Trials Clinical Trials

Roche to present new data at the ISTH 2021 Congress highlighting long-standing commitment to advancing haemophilia A standard of care

The Pharma Data

JULY 6, 2021

The STASEY study is one of the largest open-label studies primarily assessing the safety and tolerability of a medicine for adults and adolescents with haemophilia A with factor VIII inhibitors. The Food and Drug Administration (FDA) granted orphan-disease designation and breakthrough therapy designation in the U.S.,

Gene Therapy

Gene Therapy Gene Clinical Trials Clinical Trials

Novartis announces lift of partial clinical trial hold and plans to initiate a new, pivotal Phase 3 study of intrathecal OAV-101 in older patients with SMA

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

Clinical Trials Clinical Trials Gene Therapy Trials

BridgeBio Pharma, Inc. Prices Upsized Offering of $650 Million Convertible Senior Notes

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. This press release contains forward-looking statements. Forward-Looking Statements.

Sales

Sales Marketing Development Containment

BioMarin Announces Positive Phase 3 Gene Therapy Trial Results in Adults with Severe Hemophilia A; Study Met All Primary and Secondary Efficacy Endpoints in One-Year Data Set

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

Gene Therapy Gene Trials Clinical Trials

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

The Pharma Data

SEPTEMBER 22, 2020

About Novartis Gene Therapies Novartis Gene Therapies (formerly AveXis) is reimagining medicine to transform the lives of people living with rare genetic diseases. Disclaimer This press release contains forward-looking statements within the meaning of the United States Private Securities Litigation Reform Act of 1995.

Clinical Development

Clinical Development Gene Therapy Development Gene

Abacus Medicine Pharma Services and Laboratoires CTRS extend partnership to improve access to Orphacol® in Spain

Pharmaceutical Technology

APRIL 4, 2023

Abacus Medicine Pharma Services (AMPS) and Laboratoires CTRS, marketing authorization holder of Orphacol®, are proud to announce a strategic partnership that ensures continuous stock of Orphacol® in Spain. Orphacol® is a pharmaceutical product containing cholic acid, a substance found in the bile, which is used to digest fats.

Medicine

Medicine Marketing Production Genetics

Clinical Research Informer

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

New research begins to write the rules on CRISPR activation

Trending Sources

FDA approval to Keytruda and Lenvima; FibroGen’s Roxadustat; Pfizer’s TICOVAC; Ipsen’s Palovarotene; Jazz Pharma’s Xywav; Seagen-RemeGen’s Cancer Medicine

Trends in Human Health Management: A Journey through Time

FDA Approves Imcivree (setmelanotide) for Chronic Weight Management in Patients with Obesity Due to POMC, PCSK1 or LEPR Deficiency

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

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

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

Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP

Patient centricity and the changing pharmaceutical vista

Food and Drug Administration Accepts BioMarin’s New Drug Application for Vosoritide to Treat Children with Achondroplasia

Searching for answers in rare epilepsy

Inozyme Pharma Reports Third Quarter 2020 Financial Results and Provides Business Highlights

Searching for answers in rare epilepsy

Hypoxia-Inducible Factor-2 Alpha (HIF-2?) Inhibitor WELIREG™ (belzutifan) for the Treatment of Patients With Certain Types of Von Hippel-Lindau (VHL) Disease-Associated Tumors

Top 10 Fastest Growing Biotech Companies in 2023

Stoke Therapeutics Announces Presentations Related to the Company’s Work to Advance STK-001, the First Potential New Medicine to Target the Underlying Cause of Dravet Syndrome at the American Epilepsy Society (AES) 2020 Annual Meeting

Roche to present new data at the ISTH 2021 Congress highlighting long-standing commitment to advancing haemophilia A standard of care

Novartis announces lift of partial clinical trial hold and plans to initiate a new, pivotal Phase 3 study of intrathecal OAV-101 in older patients with SMA

BridgeBio Pharma, Inc. Prices Upsized Offering of $650 Million Convertible Senior Notes

BioMarin Announces Positive Phase 3 Gene Therapy Trial Results in Adults with Severe Hemophilia A; Study Met All Primary and Secondary Efficacy Endpoints in One-Year Data Set

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

Abacus Medicine Pharma Services and Laboratoires CTRS extend partnership to improve access to Orphacol® in Spain

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