SpliceBio’s Post

Having rare disease is not so rare.. The above striking quote was presented in the FDA’s REdi Annual Conference 2024-CBER track. This is especially true because over 10,000 rare diseases are affecting a total of 25-30 million amercians and globally. Many disorders are serious and life threatening affecting children as well leading to early death. Hence, it is high time to focus on cell and gene therapies as 60-70% are single gene diseases that have the potential to be treated. #fda #celltherapy #genetherapy #cber #rediconference

Gaucher disease is a rare inherited (genetic) enzyme deficiency disorder. One of the ways forward in the treatment of Gaucher disease is gene therapy. For Type 1 Gaucher disease, there are a number of gene therapy clinical trials currently looking for participants to enrol. The IGA has compiled information about these trials on a dedicated web page with the aim of making it easy for the community to understand the similarities and differences between them. Visit tiny.cc/gttrials to learn more. #tuesdaytakeover #RareDisease #RareDiseaseCharity #PatientAdvocacy #PatientVoice #PatientEngagement #Gaucher #GaucherDisease #EnzymeDecifiencyDisorder #GeneTherapy #RareDiseaseDay2024 #RareDiseaseDay #RDD2024 #RDD

If you’ve spent any time reading up on or living life with a rare condition, chances are you’ve come across the terms “genetic disorder,” and “gene therapy.”     But what exactly do they mean?     And what differentiates them from other diseases and treatments?    Genetic diseases that are the result of a single, nonworking or missing gene make an easier target for gene therapies. These therapies can replace the single nonworking gene, so that it can now provide its necessary function.    Learn more 'Gene Transfer Therapy for Childhood Diseases: Everything You Need to Know' on The Know Rare Blog: https://lnkd.in/g-fTAUaD    -    #genetransfertherapy #medicalresearch #genetictesting #geneticdisease #clinicalresearch #clinicaltrials #raredisease #rarediseaseresearch #rarediseaseadvocacy #KnowRare 

📢 Breaking: Safer and Cheaper Alternative to Viral Vectors 📰 "Overcoming Viral Vector Risks" discusses the limitations and risks associated with the use of viral vectors in cell and gene therapy CGT manufacturing. The FDA has issued new warnings regarding the oncogenic potential of viral vectors. Electroporation, a non-viral method for delivering genetic material into cells, offers a safer and more cost-effective alternative. Electroporation allows for the efficient delivery of large payloads and eliminates concerns about immunogenicity and insertional mutagenesis. It also simplifies manufacturing and reduces costs. #BioprocessUpdates #ViralVectorRisks #CellAndGeneTherapy #FDAWarnings #OncogenicPotential #Electroporation #GeneticMaterial #Immunogenicity #InsertionalMutagenesis #ManufacturingSafety #CostEffectiveAlternative #LargePayloads #ReducedCosts #RiskMitigation #CGTManufacturing #ViralVectors ▷ Read the full article here: 📎 https://lnkd.in/dNUm3aev

RAPTAR AUTOMATED SAFETY CASE PROCESSING - ADVANCED THERAPIES Is your Pharmacovigilance as advanced as your therapies? In order to help with Pharmacovigilance safety case processing PharSafer has invented RAPTAR - An automated safety case processing system with configurable follow up to monitor safety in all types of products - drugs, devices, vaccines, biologics, advanced therapies and cosmetics. As new and necessary treatments are devised and approved RAPTAR can ensure Regulatory compliance for safety reporting allowing for the accurate collection of safety data globally in a cost effective way. PharSafer remains at the cutting edge of global drug safety to ensure Companies can easily comply with multi-national safety requirements in a compliant manner. 😀 Follow us on: #RAPTAR ⬇ https://lnkd.in/exZFGiw #PharSafer ⬇ https://lnkd.in/eimySG2 #drugdevelopment #drugsafety #pharmacovigilance #medicaldevices #cosmeticsindustry #cosmetics #compliance #regulatoryaffairs #regulatorycompliance #regulatoryintelligence #PBRER #periodic reports #vaccinedevelopment #materiovigilance #inspections #gcp #auditing #audits #auditservices #IND #PSMF #PRAC #validation #artificialintelligence #GAMP #21CFRPart11 #clinicaltrials #clinicaloperations #ICH #trainingdevelopment #training #QRcode #ITautomation #FDA #EMA #PRAC #Brexit #DSUR #MHRA #ICSR #SUSAR #caseprocessing #automation #signaldetection #medicalinformation #medicalaffairs #productinformation #productcomplaints #training #SDEA #medicaldevice #device #regulation #pregnancy #advancedtherapies

Gene therapies are reshaping the treatment landscape for many diseases with unmet medical need. By targeting the root cause of disease within living cells, these innovative therapies promise hope, improved quality of life, and longevity for affected individuals. Their therapeutic success, however, often relies on the intricate process of developing and manufacturing the #viralvectors that carry genetic material into cells. For this reason, much is resting on the efficiency, safety, and scalability of viral vector production, bringing into sharp focus the pivotal role of #CDMOs who provide #viralvectordevelopment services. Our new blog post considers the unique journeys of two #genetherapy companies, NysnoBio and bluebird bio, at different stages of the development and manufacturing cycle and their distinct viral vector development needs. Read the blog: http://spr.ly/6047VWeC7 #ParkinsonsDisease #sicklecelldisease #sicklecell #viralvectormanufacturing

First autologous CD34+ hematopoietic stem/progenitor cells therapy, genetically modified by Lenti-transduced ASMA gene, approved today by FDA to treat Metachromatic Leukodystrophy (MLD). The trial recruitment of MLD is in EU, https://lnkd.in/eZ3PpuHZ The trial sponsor published the Ph1/2 clinical trial result in Lancet in 2022: https://lnkd.in/eRejuC_J This Phase I/II clinical trial consists of the application of lentiviral vector-based gene therapy to patients affected by Metachromatic Leukodystrophy (MLD), a rare inherited Lysosomal Storage Disorder (LSD) resulting from mutations in the gene encoding the Arylsulfatase A (ARSA) enzyme. The medicinal product consists of autologous CD34+ hematopoietic stem/progenitor cells in which a functional ARSA cDNA is introduced by means of 3rd generation VSV-G pseudotyped lentiviral vectors. Treatment with arsa-cel resulted in sustained, clinically relevant benefits in children with early-onset MLD by preserving cognitive function and motor development in most patients, and slowing demyelination and brain atrophy. Congrat toUK based Orchard Therapeutics

The 29th of February was specifically selected to be the #Rare_Disease_Day, albeit occurring every 1461 days is far from being rare, compared to 1:50,000 to 1 in a million. Although research is on fire developing diagnostic and monitoring tools as well as specific therapies, including gene therapy as the perfect answer to many debilitating diseases, one domain is still unaddressed is prevention. Once a family is diagnosed with a rare disease, the question of how to have a healthy child is at the top of a long list, and the answer is not easy. Prenatal and pre-implantation diagnosis are only applicable to few diseases, and due to the numerous genetic variants discovered for each one, rapid and accurate diagnosis is not feasible, requiring relatively long time and highly advanced equipment. The need to develop accurate and more accessible diagnostic tools cannot be overemphasized, whether for identifying carriers or testing in-vitro fertilized ova. #gene_therapy, #sequencing, #FISH_test

#CureSickleCellNow There are many misconceptions about sickle cell disease. First, social determinants of health have a huge impact on disease burden. This was and is a health disparity. Second, many believe that it has now been "cured" by gene therapy and gene editing. The reality is that most patients do not have access to care where they could become eligible these treatments, and only a small percentage meet eligibility requirements. <50% is not a cure. Unfortunately, these misconceptions are also common among expert reviewers for research funding. I quote the words of a reviewer in talks now from a grant application submitted just before the approval of the genetic therapies... We study transfusion related complications in sickle cell disease. Most adults have these complications!