Haploinsufficiency

Pharming Group reports first quarter 2024 financial results and provides business update

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Mercoledì, Maggio 8, 2024
VWAP, VUS, FDA, Phase, Haploinsufficiency, IRP, Iberian languages, Laboratory, Safety, Euronext Amsterdam, Pharmacokinetics, PTEN, Epidemiology, CTLA4, Marketing, World Games, APDS, Health care, MAA, CHMP, Trial of the century, Genetic testing, Disease, Patient, Physician, EMA, Primary immunodeficiency, Ministry, Variant, Committee, MHRA, Diagnosis, Pids, PID, Lymphocyte, Clinical trial, Government, Microsoft Access, Prevalence, Ageing, Pharmaceutical industry

“Pharming delivered a strong first quarter, increasing quarterly revenues by 31% year-over-year to US$55.6 million and keeping the Company on track for our 2024 total revenue guidance of US$280 - US$295 million.

Key Points: 
  • “Pharming delivered a strong first quarter, increasing quarterly revenues by 31% year-over-year to US$55.6 million and keeping the Company on track for our 2024 total revenue guidance of US$280 - US$295 million.
  • Pharming made continued progress in the first quarter of 2024 on leniolisib regulatory filings for APDS patients 12 years of age and older in key global markets.
  • Pharming filed regulatory submissions in Canada and Australia in the third quarter of 2023, and Israel in the second quarter.
  • Pharming announced completion of enrollment in the clinical trial for children ages 4 to 11 years old on April 8, 2024.

Jaya Biosciences Presents Updated Preclinical Data in Alzheimer’s Disease at the 45th SIMD Annual Meeting

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Martedì, Aprile 16, 2024
GUSB, Society, PPT1, IDUA, Haploinsufficiency, Gene dosage, Central Waqf Council, Animal, GALC, Research, AAV, IND, CNS, Disease, Science, NAGLU, Patient, DSM-IV codes, SIMD, Toxicology, Annual general meeting, Plaque, SAN, Gene, APP, Antibiotics

During a podium presentation, Jaya Biosciences’ scientific founder and science advisory board chair, Professor Mark Sands, reported on recently updated human genetic analyses suggesting that heterozygous loss-of-function mutations in lysosomal enzyme genes are enriched in Alzheimer’s disease (AD) patients.

Key Points: 
  • During a podium presentation, Jaya Biosciences’ scientific founder and science advisory board chair, Professor Mark Sands, reported on recently updated human genetic analyses suggesting that heterozygous loss-of-function mutations in lysosomal enzyme genes are enriched in Alzheimer’s disease (AD) patients.
  • This new analysis generated from a much larger whole genome sequence database confirmed their previous human genetic findings from a smaller whole exome database.
  • “The updated human genetic data confirmed that heterozygous deleterious mutations in a subset of lysosomal genes are enriched in patients with Alzheimer’s disease,” said Prof. Mark Sands.
  • For more information about the 45th SIMD Annual Meeting, please go to SIMD2024 Meeting .

Jaya Biosciences Presents New Paradigm for the Treatment of Alzheimer’s Disease at the 23ʳᵈ Annual Needham Virtual Healthcare Conference

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Martedì, Aprile 9, 2024
SAN, PPT1, Conference, Haploinsufficiency, Pharmaceutical industry

SOUTH SAN FRANCISCO, Calif., April 09, 2024 (GLOBE NEWSWIRE) -- Jaya Biosciences, Inc. (“JayaBio” or “the Company”), a privately held early-stage life-sciences company developing gene therapies to address unmet needs in genetically defined neurodegeneration, presented promising non-clinical data for a novel treatment approach in Alzheimer’s disease at the 23rd Annual Needham Virtual Healthcare Conference.

Key Points: 
  • SOUTH SAN FRANCISCO, Calif., April 09, 2024 (GLOBE NEWSWIRE) -- Jaya Biosciences, Inc. (“JayaBio” or “the Company”), a privately held early-stage life-sciences company developing gene therapies to address unmet needs in genetically defined neurodegeneration, presented promising non-clinical data for a novel treatment approach in Alzheimer’s disease at the 23rd Annual Needham Virtual Healthcare Conference.
  • JayaBio’s President and CEO, Pawel Krysiak, reviewed the rationale for targeting the autophagy-lysosomal pathway and discussed the Company’s lead program, JB111, including its strong animal proof-of-concept data and near-term development milestones.
  • “We are grateful for the opportunity to share a new paradigm for the treatment of genetically defined neurodegeneration with the investor community at the 23rd Annual Needham Virtual Healthcare Conference,” said Pawel Krysiak, President and CEO of JayaBio.
  • Given the size of the unmet need and the strong potential of our platform, we hope to attract experienced investors to support JayaBio’s progress and help us develop life-changing therapies for genetically defined neurodegeneration, including Alzheimer’s disease.”
    The following talk was presented at the 23rd Annual Needham Virtual Healthcare Conference:

Pharming Group reports fourth quarter and full year 2023 financial results

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Giovedì, Marzo 14, 2024
Patient, Health care, Epidemiology, Executive Committee, Laboratory, Microsoft Access, Lymphocyte, Clinical trial, European Commission, APDS, MHLW, AEG, Welfare, Ageing, Committee, EMA, Trial of the century, PID, CTLA4, Safety, Pharmacokinetics, Ministry, CHMP, ODD, U.S. FDA, Prevalence, PTEN, Disease, HAE, Immunodeficiency, VUS, Literature, PIK3R1, PMDA, FDA, DSM-IV codes, Diagnosis, Civil service commission, IRP, Haploinsufficiency, Genetic testing, MAA, Autoimmunity, World Games, Iberian languages, Marketing, MHRA, Euronext Amsterdam, PIK3CD, Physician, Pharmaceutical industry

The U.S. market contributed 97% of 2023 revenues, while the EU and Rest of World contributed 3%.

Key Points: 
  • The U.S. market contributed 97% of 2023 revenues, while the EU and Rest of World contributed 3%.
  • Revenues increased to US$7.9 million in the fourth quarter of 2023, driven by the continued increase in patients on paid therapy, and revenues were US$18.2 million for 2023.
  • Pharming made continued progress in the fourth quarter of 2023 on leniolisib regulatory filings for APDS patients 12 years of age and older in key global markets.
  • Pharming filed regulatory submissions in Canada and Australia in the third quarter of 2023, and Israel in the second quarter.

BioInnovation Institute welcomes innovative smartRNA project to Bio Studio program

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Giovedì, Marzo 14, 2024
Lykke, Epilepsy, EUR, KU Leuven, European Molecular Biology Laboratory, Haploinsufficiency, Genetics, Patient, Research, RNA, University of Washington, University, Messenger, Cancer, Laboratory, BII, Imperial College London, Student, EMBL, Monogenic, Aarhus University, University of Copenhagen, Intellectual property, Therapy, Molecular biology, DSM-IV codes, Disorder, Vaccine

Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.

Key Points: 
  • Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.
  • During the 3-year BII Bio Studio program, the objective of smartRNA is to deliver an in vitro proof-of-concept, a pseudo in vivo proof-of-principle, and in vitro benchmarking against established technologies.
  • Anja Mølhart Høg, Entrepreneur-in-Residence heading up the smartRNA project, added: "We are excited to welcome the smartRNA project to BII's Bio Studio program.
  • The Bio Studio program is a recently established BII program with the ambition to build and run a leading life science company creation facility in Europe.

BioInnovation Institute welcomes innovative smartRNA project to Bio Studio program

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Giovedì, Marzo 14, 2024
Lykke, Epilepsy, EUR, KU Leuven, European Molecular Biology Laboratory, Haploinsufficiency, Genetics, Patient, Research, RNA, University of Washington, University, Messenger, Cancer, Laboratory, BII, Imperial College London, Student, EMBL, Monogenic, Aarhus University, University of Copenhagen, Intellectual property, Therapy, Molecular biology, DSM-IV codes, Disorder, Vaccine

Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.

Key Points: 
  • Thus, the aim of the smartRNA project in BII's Bio Studio program is to leverage this proprietary technology to develop treatments for currently untreatable disorders caused by haploinsufficiency or other monogenic diseases caused by reduced protein activity.
  • During the 3-year BII Bio Studio program, the objective of smartRNA is to deliver an in vitro proof-of-concept, a pseudo in vivo proof-of-principle, and in vitro benchmarking against established technologies.
  • Anja Mølhart Høg, Entrepreneur-in-Residence heading up the smartRNA project, added: "We are excited to welcome the smartRNA project to BII's Bio Studio program.
  • The Bio Studio program is a recently established BII program with the ambition to build and run a leading life science company creation facility in Europe.

Jaya Biosciences Presents Promising Preclinical Data in Alzheimer’s Disease at the 20th Annual WORLDSymposium™ 2024

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Lunedì, Febbraio 12, 2024
SAN, Toxicology, Research, APP, Plaque, PPT1, Life, Haploinsufficiency, Science Advisory Board, CNS, GUSB, Patient, GALC, Gene, IDUA, Q&A, NAGLU, IND, AAV

SOUTH SAN FRANCISCO, Calif., Feb. 12, 2024 (GLOBE NEWSWIRE) -- Jaya Biosciences, Inc. (“JayaBio” or “the Company”), a privately held early-stage life-sciences company developing CNS-directed gene therapies to address unmet needs in genetically defined neurodegeneration, reported non-clinical data at the 20th Annual WORLDSymposium™, a leading research conference on lysosomal diseases. During a late-breaking news platform presentation, Jaya Biosciences’ scientific founder, Prof. Mark Sands, reported preliminary human genetic analysis suggesting that heterozygous loss-of-function mutations in lysosomal enzyme genes are enriched in Alzheimer’s patients, as well as preclinical efficacy results in the animal model of Alzheimer’s disease (AD) for JB111, the Company’s lead therapy.

Key Points: 
  • “We are thrilled to showcase a new paradigm for the treatment of genetically defined neurodegeneration at the 20th WORLDSymposium™,” said Pawel Krysiak, President and CEO of JayaBio.
  • “The preclinical data we presented demonstrate a tremendous promise of targeting PPT1 haploinsufficiency in Alzheimer’s disease.
  • Heterozygosity of five different lysosomal enzyme genes (PPT1, NAGLU, GALC, IDUA, GUSB) significantly affects amyloid precursor protein (APP) processing and favors pro-amyloidogenic pathway.
  • CNS-directed, AAV-mediated gene therapy significantly increases the life span and improves cognitive function of 5xFAD/PPT1+/- mice.

Jaguar Gene Therapy Announces FDA Clearance of IND to Study JAG201 in a Genetic Form of Autism Spectrum Disorder and Phelan-McDermid Syndrome

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Mercoledì, Gennaio 31, 2024
FDA, Other Health, Pharmaceutical, Managed Care, General Health, Biometrics, Mental Health, Infectious Diseases, Neurology, Genetics, Clinical Trials, Biotechnology, Science, Other Science, Research, Health, Parent, Synapse, Neuroscience, NHP, Mutation, Spectrum, Genetic disorder, Quality of life, Learning, PMSF, Memory, ASD, PMS, ICV, Investigational New Drug, Cognitive science, Broad, Prevalence, IND, Jaguar, Genetic testing, Frasier, SHANK3, ID, Spinal cord, Haploinsufficiency, DSM-IV codes, Gene therapy, Patient, Central nervous system, Harvard University, Speech, Food, Neuron, Disease, Communication, Risk, Sibling, Disorder, Psychiatry, 22q13 deletion syndrome, Intellectual disability, Broad Institute, MIT, Pediatrics, Pharmaceutical industry

Jaguar Gene Therapy, a biotechnology company accelerating breakthroughs in gene therapy for patients suffering from severe genetic diseases, including those that affect sizeable patient populations, today announced the U.S. Food and Drug Administration (FDA) has cleared the company’s Investigational New Drug (IND) Application for JAG201, a gene therapy for a genetic form of autism spectrum disorder (ASD) and Phelan-McDermid syndrome (PMS).

Key Points: 
  • Jaguar Gene Therapy, a biotechnology company accelerating breakthroughs in gene therapy for patients suffering from severe genetic diseases, including those that affect sizeable patient populations, today announced the U.S. Food and Drug Administration (FDA) has cleared the company’s Investigational New Drug (IND) Application for JAG201, a gene therapy for a genetic form of autism spectrum disorder (ASD) and Phelan-McDermid syndrome (PMS).
  • JAG201 aims to deliver functional SHANK3 via the AAV9 vector to treat the root cause of the disease.
  • “We are pleased to receive FDA clearance to bring our investigational SHANK3 gene therapy to the clinic.
  • The pre-clinical data indicate that JAG201 may have the potential to be transformative for those suffering with the disorder,” said Joe Nolan, chief executive officer of Jaguar Gene Therapy.

Stoke Therapeutics Receives Authorization to Initiate a Phase 1/2 Study of STK-002 for Autosomal Dominant Optic Atrophy (ADOA) in the United Kingdom

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Martedì, Aprile 25, 2023
Research, FDA, Genetics, Clinical Trials, Biotechnology, Health, Pharmaceutical, Optical, Science, Central nervous system, Life, Serum, DSM-IV codes, FALCON, Health care, Eye, Quality of life, CTA, TANGO, Trial of the century, IVT, Haploinsufficiency, Patient, ADOA, OPA1, ASO, Diagnosis, Stoke, Paratriathlon, Therapy, Safety, MHRA, Disease, Pharmaceutical industry, Vaccine

ADOA is a rare disease that causes progressive and irreversible vision loss in both eyes starting in the first decade of life.

Key Points: 
  • ADOA is a rare disease that causes progressive and irreversible vision loss in both eyes starting in the first decade of life.
  • STK-002 is a proprietary antisense oligonucleotide (ASO) being developed by Stoke as the first potential disease-modifying therapy to address the genetic cause of ADOA.
  • STK-002 is designed to restore OPA1 protein expression by upregulating protein production from the non-mutant (wild-type) copy of the OPA1 gene.
  • By doing this, the company hopes to slow or even stop vision loss in patients with ADOA.

Stoke Therapeutics Reports Third Quarter Financial Results and Provides Business Updates

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Lunedì, Novembre 14, 2022
Biotechnology, Health, Genetics, Pharmaceutical, Clinical Trials, Even and odd functions, Brain, Epilepsy, Sleep, Autonomic nervous system, Safety, Fenfluramine, Disease, Risk, License, Cognition, Plasma, SCN1A, Targeted molecular therapy for neuroblastoma, Dravet syndrome, OLE, Death, Research, Government budget balance, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Seizure, CSF, Diagnosis, TANGO, EMA, Patient, FDA, Language, United Kingdom, Intellectual disability, Prognosis, Therapy, Caregiver, Quality of life, Pharmacokinetics, Collaboration, ID, Asos, Protein, RNA, Food, American Epilepsy Society, Cerebrospinal fluid, ASO, Medicine, Haploinsufficiency, SUDEP, Movement, Pharmaceutical industry, Medical imaging, Coffee, Reinsurance, Animal, Vaccine, Stoke

MONARCH and ADMIRAL are multi-center, Phase 1/2a studies of children and adolescents who have an established diagnosis of Dravet syndrome.

Key Points: 
  • MONARCH and ADMIRAL are multi-center, Phase 1/2a studies of children and adolescents who have an established diagnosis of Dravet syndrome.
  • Today, the Company provided topline results from the ongoing Phase 1/2a MONARCH and ADMIRAL studies of STK-001.
  • Stoke Therapeutics (Nasdaq: STOK), is a biotechnology company dedicated to addressing the underlying cause of severe diseases by upregulating protein expression with RNA-based medicines.
  • Using Stokes proprietary TANGO (Targeted Augmentation of Nuclear Gene Output) approach, Stoke is developing antisense oligonucleotides (ASOs) to selectively restore protein levels.