BioSpace

JUNE 17, 2021

The FDA said that the drug, which has been studied and submitted for NPC indication, needs further data to support its use in this rare, progressive genetic disorder.

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Genetic Disease Genetics Drugs 52

Worldwide Clinical Trials

JANUARY 24, 2024

Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare Disease Clinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. Newborn Sequencing is a research initiative that allows for a baby’s full genome to be sequenced at birth, diagnosing their genetic diseases.

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Medical Xpress

MARCH 6, 2023

The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University of Leipzig Medical Center.

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BioSpace

OCTOBER 22, 2023

The label for the achondroplasia drug, which promotes endochondral bone growth, now covers children under five years of age with the rare genetic disease causing the most common form of dwarfism.

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Drug Discovery World

JUNE 22, 2023

This is the latest episode of the free DDW narrated podcast, “Challenges and tactics for transformative drug development” It covers two articles written for Volume 23, Issue 2 – Spring 2022 of DDW. They are called “ Balancing speed and quality in CLD for faster drug development ”, and “ Sitting down with BridgeBio Pharma ”.

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Development Genetic Disease Drugs Genetics 52

Drug Discovery World

JUNE 22, 2023

This is the latest episode of the free DDW narrated podcast, “Challenges and tactics for transformative drug development” It covers two articles written for Volume 23, Issue 2 – Spring 2022 of DDW. They are called “ Balancing speed and quality in CLD for faster drug development ”, and “ Sitting down with BridgeBio Pharma ”.

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Development Drugs Genetic Disease Genetics 52

Scienmag

DECEMBER 17, 2020

Researchers at the University of Illinois Chicago have published a study showing a promising approach to using drug repurposing to treat genetic diseases. A team from the […].

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Genetic Disease Gene Genetics Drugs 52

Pharmaceutical Technology

SEPTEMBER 30, 2022

Skysona is indicated as a one-time gene therapy to slow the progression of cerebral adrenoleukodystrophy (CALD), a rare paediatric neurodegenerative disease in boys aged 4–17 years diagnosed with early-stage CALD. These approvals represent crucial milestones for bluebird bio, the gene therapy field, and patients with rare genetic diseases.

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STAT News

MARCH 11, 2023

The Food and Drug Administration on Friday approved the first treatment for Rett syndrome, a genetic disease mostly affecting girls that causes severe neurologic impairments, robbing them of the ability to communicate or control muscle movement. The new drug, called Daybue, is made by Acadia Pharmaceuticals.

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Pharmaceutical Technology

MAY 4, 2023

Vertex Pharmaceuticals has received approval from the US Food and Drug Administration (FDA) for KALYDECO (ivacaftor) to treat children with cystic fibrosis (CF) aged between one and four months. CF is a rare, life-shortening genetic disease that is estimated to impact over 88,000 people across the globe.

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STAT News

FEBRUARY 3, 2023

The Boston drugmaker’s medicines for the genetic disease — which damages the lungs and other organs — have transformed the lives of patients, helping them abandon other time-consuming treatments, shrug off what would have been dangerous respiratory infections, and just live breathing easier.

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pharmaphorum

JULY 20, 2022

Armed with a $100 million second-round financing, CAMP4 Therapeutics is preparing to start the first clinical trial of a drug targeting regulatory RNA (regRNA) molecules that can be used to fine-tune the expression of genes. ” The post CAMP4 raises $100m to take lead RNA drugs into clinic appeared first on. .

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Medical Xpress

MARCH 27, 2023

Food and Drug Administration (FDA) applications for Orphan Drug Designation (ODD) and Rare Pediatric Disease Designation (RPDD), a new article can help developers of gene therapies for rare genetic diseases. Providing an overview of the submissions process and examples of U.S.

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Medical Xpress

JANUARY 20, 2023

The results are published in The Lancet Neurology.

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Drug Discovery World

DECEMBER 5, 2022

A new partnership between industry and three rare disease foundations has formed with the goal of accelerating the development of precision drugs to treat rare neurodevelopmental disorders. . The post Partnership takes on mission to advance precision drug development appeared first on Drug Discovery World (DDW).

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Pharmaceutical Technology

APRIL 6, 2023

GRIA disorder is a family of rare genetic diseases. He will further employ this diagnostic to select drugs for restoring patients’ normal functioning. Evidence suggests that the majority of these disease-associated variants produce underactive AMPARs.

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Pharmaceutical Technology

OCTOBER 25, 2022

Astellas chief strategy officer Naoki Okamura said: “Gene therapy is the cornerstone of Astellas’ Primary Focus, Genetic Regulation; our goal is to bring new transformative treatment options to patients living with serious genetic diseases and limited treatment options.

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Pharmaceutical Technology

MAY 22, 2023

The US Food and Drug Administration (FDA) has granted approval for Krystal Biotech’s Vyjuvek (beremagene geperpavec-svdt) to treat dystrophic epidermolysis bullosa (DEB) in patients aged six months and above. Vyjuvek is a non-invasive, topical, re-dosable gene therapy that delivers functional human COL7A1 gene copies to offer wound healing.

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Drug Discovery World

DECEMBER 19, 2023

Developer Immusoft has received FDA Orphan Drug Designation and Rare Pediatric Disease Designation for the therapy, designated ISP-001, in this indication. MPS I is a rare, genetic disease that affects the body’s ability to produce the enzyme alpha-L-iduronidase (IDUA).

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pharmaphorum

NOVEMBER 19, 2021

Roche’s oral treatment Evrysdi for the rare genetic disease spinal muscular atrophy (SMA) will be made available on the NHS in England, after NICE reached a three-year access agreement with the company. The drug, which is administered as an oral liquid once a day after meals, costs almost $8,000 per bottle.

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pharmaphorum

AUGUST 12, 2020

The enzyme replacement therapy (ERT) – also known as PRX-102 – has been granted a priority review by the US regulator, and is the top prospect in Chiesi’s recently formed rare diseases division. Market research firm Optima Insights has predicted that sales of Fabry disease drugs will more than double from around $1.8

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Pharmaceutical Technology

MAY 24, 2023

The AMP programme is a public-private partnership between a number of biopharmaceutical and life sciences companies, the US Food and Drug Administration (FDA) and the National Institutes of Health (NIH), along with non-profit and other organisations.

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Drug Discovery World

APRIL 17, 2024

What are the challenges of drug discovery in this area? DS: You say on your website that your approach is applicable to any disease where increasing protein expression is beneficial. What diseases are you currently targeting? JMB: Hundreds of genetic diseases involve a missing or deficient protein and/or enzyme.

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Gene Expression Gene Genetic Disease RNA 59

STAT News

SEPTEMBER 16, 2022

Preliminary results from the study — just the second to show that CRISPR-based gene editing can be delivered systemically and performed inside the body — found the treatment, NTLA-2002, reduced levels of the disease-causing protein, kallikrein, by 65% and 92% in the low- and high-dose cohort, respectively.

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Drug Discovery World

DECEMBER 5, 2022

Scientists have unlocked key insights into virus evolution, revealing new information that could help develop treatments for a wide variety of genetic diseases. . Many distinct types of parvoviruses infect mammals – including humans – without causing disease. The study was funded by the Bill and Melinda Gates Foundation. . .

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Scienmag

SEPTEMBER 11, 2020

New haven, CT: Researchers at Yale have identified a possible treatment for Duchenne muscular dystrophy (DMD), a rare genetic disease for which there is currently no cure or treatment, by targeting an enzyme that had been considered “undruggable.” ” The finding appears in the Aug. 25 edition of Science Signaling.

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Drug Discovery World

JANUARY 24, 2023

DMD and FA are rare, degenerative, genetic diseases that affect movement and eventually lead to paralysis. This is particularly important for rare diseases where it can be hard to identify suitable patients. The post AI and wearable tech could speed up drug development appeared first on Drug Discovery World (DDW).

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pharmaphorum

FEBRUARY 17, 2022

Global Blood Therapeutics’ run of positive regulatory news for its oral sickle cell disease treatment Oxbryta has continued with an approval for the drug in Europe for patients aged over 12. The post GBT claims EU approval for sickle cell drug Oxbryta appeared first on.

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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. Advisors also had some concerns about the safety of the drug and the design of the pivotal trial used to support the marketing application.

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World of DTC Marketing

JANUARY 24, 2022

Venture capitalists have poured $42 billion into drug development over the past three years. Most small biotech companies rely on venture capitalist funding to develop new drugs but is that a good way to go? billion, which was much lower than previous studies, which have placed the average cost of drug development as $2.8

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Drug Discovery World

NOVEMBER 17, 2022

Andrew Roddam, CEO of Our Future Health, shares the impact research programmes such as this will have on drug discovery. . Our Future Health aims to tackle this and help people live healthier lives for longer by creating the UK’s largest ever health research programme to prevent, detect and treat diseases.? References.

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Pharmaceutical Technology

JULY 29, 2022

In preparation for this, drug manufacturing will begin later this year and will be outsourced to external contract manufacturing organisations (CMOs). The most common marketed drugs in this space aim to address the hyperammonaemia caused by the defective genes in this disorder. David Bumcrot PhD, CSO, CAMP4 Therapeutics.

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The Pharma Data

OCTOBER 15, 2020

Vertex Pharmaceuticals has decided to give up on its experimental VX-814, a small molecule drug for the rare genetic disease Alpha-1 antitrypsin deficiency (AATD), canning the drug’s development after seeing lackluster results from an early phase 2 trial.

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Drug Discovery World

MAY 3, 2024

Dr Incerti has more than three decades of experience in the biopharmaceutical industry and brings an extensive track record in global drug development, including from his time at Sanofi Genzyme where he played a leading role in pioneering therapies for rare and genetic diseases.

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Development Genetic Disease Genetics Drugs 52

pharmaphorum

SEPTEMBER 17, 2020

AstraZeneca has bought rights to an orally-active drug that inhibits PCSK9, offering a patient-friendly alternative to current cholesterol-lowering therapies that have to be delivered via a needle. The post AZ buys oral PCSK9 cholesterol drug from Dogma Therapeutics appeared first on.

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Drug Discovery World

SEPTEMBER 5, 2023

The UK’s National Institute for Health and Care Excellence (NICE) has recommended Elfabrio (pegunigalsidase alfa) as an option for treating Fabry disease (or alpha-galactosidase deficiency). The drug is recommended for use on the NHS under the terms of a confidential commercial agreement.

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Genetic Disease Genetics Drugs 52

pharmaphorum

DECEMBER 8, 2021

Safety was an issue however, with 17% of patients in the trofinetide group discontinuing therapy due to adverse events, mainly diarrhoea – seen in 80% of patients taking the drug – and vomiting. The post Acadia closer to bringing first Rett syndrome drug to market appeared first on.

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