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We are witnessing a revolution in healthcare, driven by advances in genetics, Omics, RNA and CRISPR gene-editing technology, to deliver precision and personalised medicine, said Kiran Mazumdar-Shaw, executive chairperson, Biocon and Biocon Biologics. This holds the potential to cure geneticdiseases that have plagued families for generations.
Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment.
Safety monitors cleared the company to test a higher dose after reviewing data from 10 patients, providing some hopeful news after recent setbacks for experimental drugs targeting the geneticdisease.
Catalent will provide process development and CGMP manufacturing of AavantiBio’s adeno-associated viral (AAV) vector-based therapeutic candidate for use in clinical trials in the U.S. and Europe. Catalent will further support process optimization and look to reduce material.
CAH is a group of rare genetic disorders affecting the adrenal glands, which produce essential hormones like cortisol, aldosterone and androgens. In the first trial, 122 adults received Crenessity twice daily and 60 received placebo twice daily for 24 weeks. Crenessity marks the third approved drug for Neurocrine.
CF is a progressive geneticdisease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. In clinical trials, Alyftrek demonstrated non-inferiority to Trikafta, showing similar improvements in lung function and a reduction in sweat chloride levels.
There are options in the future to possibly apply the worldwide research and development (R&D), manufacturing and marketing expertise of Astellas in gene therapy to AAV gene therapy development programmes of Taysha for genetic ailments of the central nervous system (CNS).
Prime Medicine has been given the go-ahead by the FDA for the first human trial of its prime editing technology, which promises to deliver one-shot therapies for a range of severe geneticdiseases.
In addition, preclinical studies of Jotrol in a Parkinson’s disease mouse model at the University of Miami have shown promise, addressing hallmark symptoms like nigral cell loss and dopamine deficits. Proceeds from the IPO will propel key initiatives, including the Phase II clinical trial of Jotrol in Parkinson’s disease.
It is based on data from a cohort in a Phase III, 24-week, open-label trial assessing the safety, pharmacokinetics and pharmacodynamics of ivacaftor in CF patients with an ivacaftor-responsive CFTR mutation who are under 24 months old. This cohort showed a safety profile identical to that found in older children and adults.
The Food and Drug Administration on Friday approved the first treatment for Rett syndrome, a geneticdisease 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.
CAMP4’s CSO David Bumcrot PhD tells Pharmaceutical Technology that the company plans to see clinical trials go forward for their urea cycle disorder programs late next year. However, in patients with urea cycle disorders, genetic defects result in inadequate amounts of the enzymes needed to convert nitrogen into urea.
It is claimed to be both the first re-dosable gene therapy and the first and only FDA-approved treatment for both recessive and dominant types of DEB, a rare and serious geneticdisease affecting the skin and mucosal tissues. The regulatory approval was supported by data from the GEM-1/2 and GEM-3 clinical trials.
The Foundation for the National Institutes of Health (FNIH) announced this week that the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC) has selected eight rare diseases for its clinical trial portfolio. In the US, more than 30 million people live with a rare disease.
A gene therapy being developed by Lexeo Therapeutics to treat cardiomyopathy caused by Friedreich ataxia, a rare neurodegenerative geneticdisease, has achieved good interim results in a phase 1/2 trial.
In rare diseasetrials, it’s not always feasible to choose clinically-relevant endpoints to measure the efficacy of a new therapeutic. Verifying the biomarker’s clinical validity for use as a surrogate endpoint in rare disease research is another hurdle which is generally a longer-term goal.
Vyjuvek is also the first drug approved to treat the disease and is Krystal’s first approved product. DEB is a genetic disorder characterized by very fragile skin that rips and blisters easily even from minor friction (like rubbing or scratching) or injury, resulting in open wounds that are prone to skin infections and fibrosis.
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
CTX is a rare, progressive genetic disorder caused by mutations in the CYP27A1 gene, which disrupts the livers ability to produce chenodeoxycholic acid, a bile acid. The FDAs approval was supported by data from the Phase III RESTORE study a 24week, doubleblind, placebocontrolled, randomized crossover withdrawal trial.
Related: UK’s NHS Backs World’s Costliest Drug Libmeldy for the Treatment of Rare Disease MLD. Below are some facts and information about rare diseases, including rare disease clinical trials and orphan drugs. How is a Rare Disease Defined? Are Most Rare DiseasesGenetic?
This is Pfizer’s second FDA-approved treatment for a rare genetic blood disorder this year. Related: World Thrombosis Day 2024: Move Against Thrombosis This approval stems from the results of the Phase III BASIS trial, which evaluated the efficacy and safety of Hympavzi in patients with hemophilia A or B.
First introduced in 2020, the global Managed Access Programme (gMAP) has provided Zolgensma (onasemnogene abeparvovec) free of charge to nearly 300 children with the genetic disorder across 36 countries where the therapy has not yet received approval or in which no formal access pathway exists.
In the age of artificial intelligence, no trial data should be going to waste. Findacure’s Rick Thompson looks at how these technologies could bring us closer to treatments for underserved rare diseases. The repurposing of drugs is becoming more common, especially in the field of rare diseases.
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.
In this episode, Ayesha discussed the FDA approval of Sanofi’s enzyme replacement therapy Xenpozyme for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD), a rare genetic lysosomal storage disease, in adults and pediatric patients.
Rett syndrome is a rare genetic disorder that predominantly affects girls and leads to severe physical and cognitive impairments. Dr. Bishop: Rett syndrome is a genetic disorder caused by a mutation in the MECP2 gene. Rett syndrome is a neurodevelopmental disorder — not a neurodegenerative disease.
Nasdaq:RYTM), a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare geneticdiseases of obesity, announced today that the U.S. With this approval, Imcivree becomes the first-ever FDA approved therapy for these rare geneticdiseases of obesity. BOSTON, Nov.
BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU) on hold while it investigates a safety signal. The post FDA slaps clinical hold on BioMarin’s PKU gene therapy appeared first on.
Pompe disease, also referred to as acid-maltase disease and glycogen storage disease II, is an uncommon genetic disorder characterized by the gradual weakening of both cardiac and skeletal muscles. Crowley, executive chairman of Amicus Therapeutics, in the company’s press release. How Do Pombiliti and Opfolda Work?
Vertex Pharmaceuticals has decided to give up on its experimental VX-814, a small molecule drug for the rare geneticdisease Alpha-1 antitrypsin deficiency (AATD), canning the drug’s development after seeing lackluster results from an early phase 2 trial.
Sarepta reported updated clinical trial results with the one-shot therapy in July which bolstered the data for SRP-9001 (delandistrogene moxeparvovec) for efficacy and durability, but also raised a concern about its safety after a serious case of myocarditis was seen in one of 38 patients enrolled in its ENDEAVOR study.
Pharmaceutical companies are putting their trust in the immense potential this new generation of medicine has for treating individuals with rare geneticdiseases, which currently affect an estimated 280 million patients worldwide. The majority of these are in Phase I (68%) and Phase II (24%), with just 8% in Phase III.
CRISPR technology has begun to enter clinical trials due to emerging therapeutic applications, but the technology still has limitations, primarily because it is difficult to safely make large quantities of precisely edited cells.
PKU is a rare geneticdisease that manifests at birth and is marked by an inability to break down phenylalanine (phe), an amino acid that is commonly found in many foods. Left untreated, high levels of the amino acid become toxic to the brain and may lead to serious neurological and neuropsychological issues.
Shape’s RNA editing technology could potentially modify the amount of a key regulatory protein in the body or treat geneticdiseases. The company then utilizes the de-identified records to improve the design of clinical trials and quality of life measurements. and Leila Zegna, director of the Kabuki Syndrome Foundation.
FCS is a rare genetic disorder that prevents the body from properly breaking down triglycerides (a type of fat in the blood), leading to dangerously high levels. The approval of Tryngolza was based on positive results from the Phase III Balance trial, which showed reductions in triglyceride levels and acute pancreatitis events.
Clinical trial results reported at this year’s European Haematology Association (EHA) congress showed that a one-time treatment with exa-cel had a significant benefit in both SCD and thalassaemia patients. HbF produces normal, healthy red blood cells, rather than the misshapen cells produced by faulty haemoglobin in the two disorders.
It’s not the first time Vertex and Arbor have worked together – in 2018, they collaborated on a project focused on geneticdiseases, including cystic fibrosis, Vertex’ core therapeutic focus with four approved therapies that treat around 90% of CF patients.
The drug – which costs $125,000 at US list prices – can be used either alone or in combination with hydroxyurea, a well-established therapy for the disease. The confounder for both GBT and Novartis’ hopes for their drug could be genetic therapies for SCD, which offer a one-shot treatment for the disease.
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.
The submission was based on the safety and efficacy data of the pivotal Phase II trials 201 and 12-230. It works by degrading HAO1 mRNA and decreasing the synthesis of glycolate oxidase (GO), an enzyme upstream of the disease-causing defect in PH1. The FDA approved the drug on November 24.
A gene-editing drug developed by CRISPR Therapeutics and Vertex Pharma has achieved “remarkable” improvements in patients with beta thalassaemia and sickle cell disease in an early-stage trial reported at the American Society of Haematology (ASH) annual meeting.
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