pharmaphorum

AUGUST 10, 2021

Europe market has proved so hostile to gene therapies when it comes to pricing and reimbursement for gene therapies that bluebird bio has decided to quit the market altogether, according to Andrew Obenshain, president of its severe genetic diseases unit. That process is also due to complete before year-end, said Leschly.

Gene Therapy 135

Gene Therapy Gene Marketing Genetic Disease 135

pharmaphorum

NOVEMBER 27, 2020

The regulator has given a green light to use of Symkevi (tezacaftor/ivacaftor) with Vertex’ Kalydeco (ivacaftor) in patients ages six years and older who have two copies of the F508del mutation in the CFTR gene, or one F508del copy and one of 14 other so-called “minimal function” mutations in CFTR.

Gene 134

Gene Genetic Disease FDA Approval Genetics 134

XTalks

OCTOBER 7, 2020

A tiny child with a devastating genetic disease who wasn’t supposed to blow out the candles on his first birthday cake. Not only did this baby survive to do all these things, but he became a poster child for gene therapy with the regulators at the U.S. One chapter discusses how to form early partnerships with regulators.

Development 98

Development Gene Therapy Clinical Trials Clinical Trials 98

BioPharma Reporter

JULY 21, 2022

US biotech, CAMP4 Therapeutics, has secured US$100m in a Series B financing round that it says will be used to accelerate expansion of its regulatory RNA (regRNA) platform.

Genetic Disease 52

Genetic Disease RNA Genetics Regulation 52

pharmaphorum

AUGUST 12, 2020

The FDA has started its review of Israeli biotech Protalix BioTherapeutics and partner Chiesi’s Fabry disease therapy pegunigalsidase alfa, setting up a possible approval by 27 January.

Drugs 98

Drugs Genetic Disease Gene Therapy Trials 98

pharmaphorum

SEPTEMBER 6, 2021

The biotech said that the US regulator ordered the pause on the study after liver tumours were seen in mice given the therapy in preclinical testing. PKU is a rare genetic disease that manifests at birth and is marked by an inability to break down phenylalanine, an amino acid that is commonly found in many foods.

Gene Therapy 94

Gene Therapy Gene Genetic Disease DNA 94

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 95

Gene Therapy Gene Trials Clinical Trials 95

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 52

FDA Approval Genetic Disease Genetics Clinical Trials 52

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.

DNA 98

DNA Gene Gene Silencing Genomics 98

pharmaphorum

DECEMBER 9, 2021

An FDA advisory committee has delivered a blow to Reata Pharma, after voting unanimously that the drugmaker’s data on bardoxolone – a drug for kidney disease – did not show it is effective. ” Trading in Reata’s shares was halted ahead of the meeting, but the stock was down 38% pre-market this morning.

Drugs 52

Drugs Clinical Trials Clinical Trials Genetic Disease 52

XTalks

SEPTEMBER 12, 2022

Related: FDA’s CDER Introduces New ARC Program to Accelerate Rare Disease Cures. Sanofi picked up its first Xenpozyme approval for the treatment of Niemann-Pick from Japanese regulators in March followed by an approval from European officials in May.

FDA Approval 98

FDA Approval Genetics Trials Gene 98

pharmaphorum

DECEMBER 6, 2020

The trials are the first to test a CRISPR/Cas9 gene editing therapy in humans for a genetic disease, according to the partners. Similarly, three SCD patients suffered none of the characteristic painful attacks – known as vaso-occlusive crises (VOCs) – in the three to 15-month follow-up period after the treatment.

Gene Editing 52

Gene Editing Gene In-Vivo Genetics 52

XTalks

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. Defects in hamartin or tuberin lead to a loss of regulation of mTOR, resulting in aberrant differentiation and development, which causes the generation of enlarged cells, as seen in TSC brain lesions.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

XTalks

MAY 12, 2023

The MeCP2 protein plays a crucial role in regulating the activity of genes involved in brain development. What’s been shown in mouse models of Rett syndrome which also have the genetic disease, is that trofinetide helps strengthen those connections between the neurons. Daybue, also called trofinetide, is a tripeptide.

FDA Approval 97

FDA Approval Genetics Trials Drugs 97

Delveinsight

FEBRUARY 11, 2021

Avrobio designed the Plato platform to optimize vector copy numbers, personalize the conditioning regimen, aid automated manufacturing and otherwise promote and industrialize its lentiviral vector-based approach to treating genetic diseases.

Gene Therapy 52

Gene Therapy Gene Immune Response In-Vivo 52

The Pharma Data

NOVEMBER 19, 2020

He has pioneered the establishment of diagnostic evaluation algorithms for children with sensorineural hearing loss and developed a next generation sequencing platform to determine the genetic causes of hearing loss in children. He has 92 peer review articles published with the majority related to hearing loss. Source link.

Genetics 52

Genetics Containment Genetic Disease Gene 52

XTalks

JANUARY 3, 2025

Tryngolza works by targeting a protein in the liver, apoC-III, which regulates triglyceride metabolism. People with FCS often have triglyceride levels higher than 880 mg/dL, compared to a healthy target level of below 150 mg/dL. FCS also severely impacts quality of life, causing chronic fatigue and recurrent stomach pain.

FDA Approval 59

FDA Approval Drugs Clinical Trials Clinical Trials 59

The Pharma Data

MARCH 16, 2021

If not properly regulated, the accumulation of HIF-2? About Von Hippel-Lindau Disease and Renal Cell Carcinoma. Von Hippel-Lindau disease is a rare genetic disease that affects one in 36,000 people (200,000 cases worldwide and 10,000 cases in the U.S. Proteins known as hypoxia-inducible factors, including HIF-2?,

Drugs 52

Drugs Trials Genetics Protein 52

The Pharma Data

OCTOBER 18, 2020

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, as well as from lifestyle factors such as smoking, poor diet, and chronic stress. Shortening of telomeres is associated with the symptoms of aging, heart disease, DNA damage and uncontrolled cell replication, which can lead to cancer.

DNA 52

DNA Scientist Genetic Disease Research 52

XTalks

DECEMBER 29, 2022

In 2022 alone, the US regulator approved four new gene therapies, showing the high interest in getting these therapies to market. It has also been granted Regenerative Medicine Advanced Therapy (RMAT), Fast Track, Orphan Drug, and Rare Pediatric Disease designations from the US regulator for both SCD and TDT.

Life Science 52

Life Science Gene Therapy Gene Manufacturing 52

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. These modifications regulate gene expression without altering the sequence or structure of DNA.

DNA 52

DNA Gene Gene Silencing Genomics 52

XTalks

SEPTEMBER 16, 2024

HAE is caused by a deficiency or dysfunction of the C1-inhibitor, a protein involved in regulating inflammation. HAE affects approximately one in 50,000 people globally, and there is currently no cure for the disease. These attacks can be unpredictable, often leading to life-threatening situations when they affect the throat or lungs.

Protein 52

Protein Genetics Trials Allergies 52

XTalks

NOVEMBER 10, 2023

cTTP is a very rare, inherited and life-threatening blood clotting disorder caused by a disease-causing mutation in the ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13) gene, which encodes the ADAMTS13 enzyme that regulates blood clotting by cleaving the von Willebrand factor (VWF) protease.

FDA Approval 59

FDA Approval Gene Therapy Gene Clinical Trials 59

XTalks

SEPTEMBER 17, 2020

In rare disease trials, it’s not always feasible to choose clinically-relevant endpoints to measure the efficacy of a new therapeutic. Patients with this disease have a very high level of LDL-C, which increases their risk of coronary artery disease, including heart attack, stroke and atherosclerosis.

Trials 98

Trials Gene Hormones Clinical Trials 98

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. More than 30% of patients with SMA Type 2 will die by age 25.

Clinical Development 52

Clinical Development Gene Therapy Development Gene 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.

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Gene 52

The Pharma Data

NOVEMBER 2, 2020

This condition is caused by a mutation in the fibroblast growth factor receptor 3 gene ( FGFR3 ), a negative regulator of bone growth. BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases. In the U.S.,

Drugs 40

Drugs Containment Trials Marketing 40

The Pharma Data

OCTOBER 28, 2020

Silencing of the paternal UBE3A allele is regulated by the UBE3A antisense transcript (UBE3A-AS), the intended target of GTX-102. Ultragenyx is a biopharmaceutical company committed to bringing novel products to patients for the treatment of serious rare and ultra-rare genetic diseases. About Ultragenyx.

Protein 40

Protein Production Development Drugs 40

XTalks

OCTOBER 1, 2020

Sooter has also found success in industry, leading and bringing together the work of different teams of researchers at NeuBase to help drive the company’s goal of developing cures and treatments for genetic diseases, including Huntington’s Disease. She says, “It’s been a lot of fun; it’s a decision I’m glad I made.”.

Scientist 52

Scientist In-Vitro Research Life Science 52

Pharmaceutical Technology

APRIL 24, 2023

Nanoparticles can be tailored to target specific cells or tissues, release gene therapies in a regulated manner, reduce toxicity, and increase stability,” he added. Conde says the use of nanoparticle delivery for gene therapies has become more common over recent years. These could feature in the next four to five years.

Drug Delivery 147

Drug Delivery Vaccination Vaccine Research 147

XTalks

NOVEMBER 29, 2024

The lack of existing treatments amplifies the unmet need for a viable therapy. Govorestat is the first therapy evaluated specifically for this ultra-rare condition.

Drugs 98

Drugs Compliance Clinical Trials Clinical Trials 98

XTalks

FEBRUARY 13, 2025

Kallikrein is a serine protease enzyme that plays a key role in the kallikrein-kinin system by activating kinins, such as bradykinin, which regulate blood vessel dilation and permeability. It is currently under FDA review and, if approved, would be the first oral, on-demand HAE treatment.

Trials 82

Trials Genetics Allergies Drugs 82