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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.
Catalent will provide process development and CGMP manufacturing of AavantiBio’s adeno-associated viral (AAV) vector-based therapeutic candidate for use in clinicaltrials 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.
CF is a progressive geneticdisease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. In clinicaltrials, Alyftrek demonstrated non-inferiority to Trikafta, showing similar improvements in lung function and a reduction in sweat chloride levels.
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. Giving participants something in return.
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).
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 clinicaltrial of Jotrol in Parkinson’s disease.
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.
Elevidys is the first FDA-approved gene therapy for DMD a rare genetic disorder characterized by progressive muscle degeneration. To date, over 800 patients have received the therapy in clinicaltrials and real-world settings. DMD is a rare, progressive and fatal disease.
The Japanese pharma contends that an analysis of the four deaths in its AT132 gene therapy clinicaltrial shows it is still viable as a potential treatment for a fatal, rare geneticdisease.
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 clinicaltrial portfolio. In the US, more than 30 million people live with a rare disease.
The technology of gene therapy is possible due to extensive DNA research and our resulting understanding of many diseases on the genetic level, and it encompasses several mechanisms such as introducing new genes (gene addition) and inactivating or replacing mutated genes (gene editing). Formulation Considerations.
CAMP4’s CSO David Bumcrot PhD tells Pharmaceutical Technology that the company plans to see clinicaltrials 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 clinicaltrials.
Hemophilia A and B are rare genetic bleeding disorders caused by a deficiency or dysfunction of clotting factors VIII (FVIII) and IX (FIX), respectively. ClinicalTrials Backing Qfitlias Approval Two Phase III studies involving adult and pediatric male patients with hemophilia A or B supported Qfitlias FDA approval.
Clinicaltrials design and patient input The definition of patient centricity, in fact, and its benefits are now – finally – being defined by patients themselves. “We We talk a lot in clinicaltrials and drug development about benefit,” Dr Mullen said. But who is benefitting?
The data came from a second cohort of just four patients in the phase 2 clinicaltrial SUNRISE-PD, although the improvement in symptoms was dramatic. Parkinson’s is not a true geneticdisease, although certain genes have been linked to an increased likelihood of onset.
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 diseaseclinicaltrials and orphan drugs. How is a Rare Disease Defined? Are Most Rare DiseasesGenetic?
A tiny child with a devastating geneticdisease who wasn’t supposed to blow out the candles on his first birthday cake. All clinicaltrials rely on a well-oiled machine of motivated professionals, but nowhere is this more true than in advanced-therapy studies in rare diseases where knowledge is sparse.
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.
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.
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.
The data from the pivotal Phase III OASIS and OASISplus studies and three-year data from a Phase II open-label extension study show significant and clinically meaningful improvements in quality-of-life measures.
MLD is a rare geneticdisease affecting the brain and nervous system caused by a deficiency of the enzyme arylsulfatase A (ARSA), which results in the accumulation of sulfatides (fatty substances) in cells. The transaction has proven fruitful with the milestone US approval of the gene therapy just a few months later.
Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare geneticdiseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.
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. Cell and gene therapies are not your typical clinical supply chain.
The UK’s National Health Service (NHS) has recommended the use of Libmeldy for the treatment of the rare geneticdisease metachromatic leukodystrophy (MLD). He added that, “A deep body of evidence now points to the potential for durable effects in HSC gene therapy for certain severe geneticdiseases including MLD.
It is difficult to control where the viral vectors insert genes in the genome, and it is difficult to manufacture large quantities of clinical-grade viral vectors. In their experiments, half of the T-cells gained the gene that converted them to CAR-T cells due to specific targeting of the TRAC site in the cells’ genome.
Armed with a $100 million second-round financing, CAMP4 Therapeutics is preparing to start the first clinicaltrial 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. .
By definition, however, trial master files represent a much richer and more detailed source of data on a drug and how it performs. For instance, provided a drug has not failed a trial on safety, the side effects it caused in one population could constitute on-target effects in another.
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.
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 clinicaltrials and quality of life measurements. and Leila Zegna, director of the Kabuki Syndrome Foundation.
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.
PKU is a rare geneticdisease that manifests at birth and is marked by an inability to break down phenylalanine, an amino acid that is commonly found in many foods. The post FDA slaps clinical hold on BioMarin’s PKU gene therapy appeared first on.
Food and Drug Administration (FDA) has determined that OAV-101 intrathecal (IT) clinicaltrials for spinal muscular atrophy (SMA) patients may proceed, thereby lifting the partial clinicaltrial hold initiated in October 2019. Novartis today announced that the U.S. SVP, Chief Medical Officer, Novartis Gene Therapies. “We
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.
Clinicaltrial 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.
million people in the US, yet there is no treatment for the most common form of the disease: heart failure with preserved ejection fraction (HFpEF). A lack of efficacy is the greatest reason for clinicaltrial failures, especially in Phase II and Phase III,” says Dr. Tyl. Heart failure affects about 6.2
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. In clinicaltrials, it showed up to an 86 percent reduction in triglyceride levels. However, Tryngolza is not the only potential solution in the pipeline.
Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. The disease is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment associated with the disease.
Sarepta reported updated clinicaltrial 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.
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.
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