Mucopolysaccharidosis

Natalia Gomez-Ospina, MD, PhD is the Recipient of the 2024 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine

Retrieved on: 
Wednesday, March 13, 2024
Research, Partner, Brain, B cell, FACMG, Gaucher's disease, Assistant, Pediatric Research, American Journal, Patient, Medical genetics, DSM-IV codes, Glycogen storage disease, System, Young Scientist Award, Gene therapy, Doctor of Philosophy, Stanford University, Protein, Genome, American College, Mucopolysaccharidosis, Genomics, Society, Hospital, Genetic, Cell, Young, Genetic distance, Hurler syndrome, Lucile Packard Children's Hospital

BETHESDA, Md., March 13, 2024 /PRNewswire/ -- Natalia Gomez-Ospina, MD, PhD is the recipient of the ACMG Foundation for Genetic and Genomic Medicine's 2024 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award—the "Watson Award"—named for the American College of Medical Genetics and Genomics first and longstanding executive director, Michael S. Watson, MS, PhD, FACMG.

Key Points: 
  • BETHESDA, Md., March 13, 2024 /PRNewswire/ -- Natalia Gomez-Ospina, MD, PhD is the recipient of the ACMG Foundation for Genetic and Genomic Medicine's 2024 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award—the "Watson Award"—named for the American College of Medical Genetics and Genomics first and longstanding executive director, Michael S. Watson, MS, PhD, FACMG.
  • "I am honored to receive this award in recognition of my dedication to advancing genetic and genomic medicine and my commitment to making a positive difference in the lives of patients with genetic diseases.
  • This award affirms the need for innovative approaches to treat such diseases and the immense potential that genome editing has in this regard.
  • "Dr. Gomez-Espina is a promising physician-scientist whose work is befitting the Dr. Michael Watson Genetic and Genomic Medicine Innovation Award, an award that honors an individual whose work has had a significant impact on genetic and genomic medicine.

Denali Therapeutics Announces New Data and Expansion of Its Blood-Brain Barrier (BBB)-Crossing Enzyme Replacement Therapy Programs at WORLDSymposium™

Retrieved on: 
Wednesday, February 7, 2024
Traffic barrier, Sanfilippo, Genomics, Hearing, Growth, BBB, AFL, Metabolism, Feinberg School of Medicine, Spleen, Dermatan sulfate, Patient, Cerebrospinal fluid, University of North Carolina, FDA, Cognition, COMPASS, Mouse, CSF, Physician, Hunter syndrome, MPS II, Brain, Behavior, MPS, Mucopolysaccharidosis, Hunting, University, SGSH, ETV, Liver, Alfa, Glycogen storage disease, Pharmaceutical industry

Denali’s BBB-crossing enzyme replacement approach has the potential to prevent cognitive and behavioral manifestations in MPS IIIA.

Key Points: 
  • Denali’s BBB-crossing enzyme replacement approach has the potential to prevent cognitive and behavioral manifestations in MPS IIIA.
  • New two-year peripheral biomarker data demonstrate high magnitude and sustained reduction of urine heparan sulfate and dermatan sulfate, including in participants who switched from standard-of-care enzyme replacement therapy to tividenofusp alfa, suggesting enhanced peripheral activity.
  • Denali also announced that dosing has begun in the Phase 1/2 study of DNL126 for the potential treatment of MPS IIIA.
  • “Our goal is to bring effective new medicines to MPS families as soon as possible,” said Carole Ho, M.D., Chief Medical Officer of Denali.

Inventiva announces positive topline results from the investigator-initiated Phase II clinical trial evaluating lanifibranor in patients with T2D and NAFLD

Retrieved on: 
Tuesday, June 13, 2023
Tissue, Steatosis, Mucopolysaccharidosis, Insulin, Obesity, CAP, University, Table, NASH, Metabolism, University of Florida, Clinical trial, Diabetes, Department of Medicine – University of Pamplona, T2DM, MPS, Trial of the century, Plasma, Fibrosis, Euronext Paris, Prediabetes, Publication, Publishing, Patient, Data, Division, Microwave spectroscopy, Fatty liver disease, Liver, NAFLD, Principal, Phase, T2D, Fasting, Safety, Pharmaceutical industry, Medical imaging, Medical device, Medicine, F.A.C.E, Endocrinology

A significantly higher proportion of patients achieved a greater than 30% liver triglyceride reduction as well as NAFLD resolution with lanifibranor compared to placebo.

Key Points: 
  • A significantly higher proportion of patients achieved a greater than 30% liver triglyceride reduction as well as NAFLD resolution with lanifibranor compared to placebo.
  • fasting plasma insulin, fasting hepatic glucose production, hepatic insulin resistance index, insulin-stimulated muscle glucose disposal), which translated into better glycemic control (i.e.
  • The study met multiple secondary metabolic endpoints confirming the cardiometabolic benefit of lanifibranor in patients with NAFLD, and ability to improve adipose tissue function (i.e.
  • The Phase II clinical trial randomized 38 patients into two arms, with patients receiving placebo or treatment with lanifibranor at 800mg/day for 24 weeks.

Global Lysosomal Disease Treatment Market Report 2022 to 2028: Featuring Pfizer, Takeda Pharmaceutical, Sanofi and Novartis Among Others - ResearchAndMarkets.com

Retrieved on: 
Tuesday, January 10, 2023
Biotechnology, Pharmaceutical, Genetics, Health, Megasphaera, Cell, Lipid, Tissue, National Center for Biotechnology Information, Enzyme replacement therapy, Fabry disease, Government, Type, LSD, Gene, Glycoprotein, Drug development, Diagnosis, Acceleration, National Center for Regenerative Medicine, Prevalence, Radiation, Bone marrow, Disease, Glycogen, Research, Male, Enzyme, Incidence, Glycogen storage disease, Gaucher's disease, Forest Law Enforcement and Governance Program, Pharmaceutical industry, Fabry, Mucopolysaccharidosis

The Global Lysosomal Disease Treatment Market size is expected to reach $11 billion by 2028, rising at a market growth of 6.3% CAGR during the forecast period.

Key Points: 
  • The Global Lysosomal Disease Treatment Market size is expected to reach $11 billion by 2028, rising at a market growth of 6.3% CAGR during the forecast period.
  • Lysosomal diseases (LSDs) are a complex group of metabolic disorders that are often inherited in an autosomal recessive manner.
  • The primary driving forces in the enzyme replacement therapy market are the expanding research and development for lysosomal disease diagnosis and drug development for treatment.
  • The increasing incidence of lysosomal disease will be a key factor contributing to the acceleration of the market's growth rate.

Inventiva announces changes to the clinical development of lanifibranor, including plans for a new Phase III trial in patients with NASH and compensated cirrhosis

Retrieved on: 
Wednesday, January 4, 2023
Fibrosis, Virginia Commonwealth University, Part, Cirrhosis, Fatty liver disease, Food, Part Two, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, F3, Euronext Paris, Histology, NASH, NDA, Risk, Thought, F2, Disease, Patient, Mortality, Liver disease, FDA, Mucopolysaccharidosis, Enrollment, Phase, Scan (company), Fast Track, Part 1, Caregiver, Pharmaceutical industry, EU

Inventiva’s request for a consultation with the FDA followed a public communication by the FDA1 suggesting that an alternative approach to seek full approval in patients with NASH could be considered upon submission of positive results of a Phase III trial using a histology surrogate endpoint in patients with NASH and a Phase III clinical outcome trial in patients with NASH and compensated cirrhosis.

Key Points: 
  • Inventiva’s request for a consultation with the FDA followed a public communication by the FDA1 suggesting that an alternative approach to seek full approval in patients with NASH could be considered upon submission of positive results of a Phase III trial using a histology surrogate endpoint in patients with NASH and a Phase III clinical outcome trial in patients with NASH and compensated cirrhosis.
  • A placebo-controlled exploratory cohort is anticipated to be added in parallel to Part 1 of the NATiV3 trial and will include approximately 200 patients with NASH and fibrosis who are not eligible for Part 1 (screen failures).
  • The Phase III outcome trial is expected to randomize approximately 800 patients with NASH and compensated cirrhosis.
  • Michael Cooreman, M.D., Chief Medical Officer of Inventiva, commented: “This is a promising evolution for our lanifibranor clinical development program.

Paradigm Biopharmaceuticals (PAR): Adapted therapies to meet unmet demand

Retrieved on: 
Sunday, December 18, 2022
VI, Research, Phase, PPS, David Ipp, Partnership, MPS, Biopharmaceutical, Thomas Edison, Mucopolysaccharidosis

Paradigm Biopharmaceuticals is a late-stage Australian drug developer focused on developing injectable pentosan polysulfate sodium (PPS).

Key Points: 
  • Paradigm Biopharmaceuticals is a late-stage Australian drug developer focused on developing injectable pentosan polysulfate sodium (PPS).
  • The company’s most advanced clinical programme is investigating injectable PPS (iPPS, Zilosul) as a potentially disease modifying treatment for knee osteoarthritis (kOA), a globally prevalent condition with unmet medical needs.
  • We believe Paradigm’s comprehensive Phase III programme is designed to maximise the potential of iPPS in kOA.
  • The company is also investigating the use of iPPS in mucopolysaccharidosis (MPS) types I and VI, rare genetic diseases.

Inventiva draws down €25 million tranche under Finance Contract with the European Investment Bank

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Monday, December 12, 2022
Finance, Mucopolysaccharidosis, IVA, Factor X, Pharmacology, Partnership, Food, Sale, Chronic liver disease, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, MPS, NASH, Pharmacokinetics, European Investment Bank, ISIN, Fruit, Exercise, EIB, Commercial code, Fatty liver disease, Research, Computational chemistry, Sino Biopharmaceutical Limited, Biology, ATM, Patient, MPS VI, Pharmaceutical industry, Security (finance), Euronext Paris

Jean Volatier, Chief Financial Officer of Inventiva, stated: “We are pleased to see that our long-term partnership with the EIB is bearing fruit.

Key Points: 
  • Jean Volatier, Chief Financial Officer of Inventiva, stated: “We are pleased to see that our long-term partnership with the EIB is bearing fruit.
  • Any drawings under the terms of the Finance Contract that have not been disbursed within 36 months from the signing of the Finance Contract, (i.e., before May 16, 2025), cannot be completed at a later date.
  • On November 4, 2022, the Company received an upfront payment of $12 million under its collaboration agreement with Sino Biopharm.
  • on December 8, 2026), (ii) a change of control event, (iii) an event of default under the Finance Contract, or (iv) a repayment demand by EIB under the Finance Contract.

Inventiva reports 2022 Third Quarter Financial Information¹

Retrieved on: 
Thursday, November 10, 2022
USD, Adult, Fatty liver disease, DC, Nasdaq, NASH, Research, Biology, EIB, ISIN, Obesity, VI, Drug development, MA, Chronic liver disease, Phase, Mucopolysaccharidosis, Computational chemistry, Pharmacokinetics, Company, Factor X, Pharmacology, Conference, Psoriasis, Patient, Sino Biopharmaceutical Limited, AbbVie, MPS, FDA, Pharmaceutical industry, Medical device, Cryptocurrency, Bank, Euronext Paris

As of September 30, 2022, Inventivas cash position stood at 72.6 million, compared to 87.2 million as

Key Points: 
  • As of September 30, 2022, Inventivas cash position stood at 72.6 million, compared to 87.2 million as
    of June 30, 2022 and 95.4 million as of December 31, 2021.
  • R&D expenses, mainly driven by the development of lanifibranor in NASH, were up 27% compared to the same period in 2021.
  • The Companys development agreement with Sino Biopharm was executed on September 21, 2022 as previously announced and the $12.6 million upfront payment was received on November 4, 2022.
  • Inventiva is also in the process of selecting an oncology development candidate for its Hippo signaling pathway program.

Cellectis Presents Data on Two TALEN®-based Gene Therapy Preclinical Programs for Patients with Sickle Cell Disease and Mucopolysaccharidosis type I at ESGCT 2022

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Tuesday, October 11, 2022
LinkedIn, Congress, ESGCT, Sickle cell disease, IDUA, HBB, Euronext Growth, YouTube, Annual report, Glycogen storage disease, Spleen, Patient, NASDAQ, Gene editing, Gene, Cell, Tissue, Nasdaq, CAR, Bone marrow, Technology, Cancer, European Society of Gene and Cell Therapy, Private Securities Litigation Reform Act, Immune system, Company, U.S. Securities and Exchange Commission, Blood, Toxicity, Disease, Securities & Exchange Commission of Pakistan, Stem cell, BST, Social media, GLOBE, Brain, Forward-looking statement, DNA, ISCB Senior Scientist Award, Engineering, Poster, Vaccine, Antibiotics, Medical imaging, HSPC, Mucopolysaccharidosis, Cellectis

Arianna Moiani, Ph.D., Senior Scientist & Team Leader Innovation Gene Therapy, will give an oral presentation on encouraging pre-clinical data that leverages TALEN gene editing technology to develop a hematopoietic stem and progenitor cell (HSPCs)-based gene therapy to treat sickle cell disease.

Key Points: 
  • Arianna Moiani, Ph.D., Senior Scientist & Team Leader Innovation Gene Therapy, will give an oral presentation on encouraging pre-clinical data that leverages TALEN gene editing technology to develop a hematopoietic stem and progenitor cell (HSPCs)-based gene therapy to treat sickle cell disease.
  • The pre-clinical data presented at ESGCT further demonstrate our ability to leverage TALEN gene editing technology to potentially address genetic diseases, namely, sickle cell disease and lysosomal storage diseases.
  • These new milestones bring us one step closer to our goal: providing a cure to patients that have failed to respond to standard therapy.
  • Sickle cell disease stems from a single point mutation in the HBB gene which results in sickle hemoglobin.

Inventiva reports its 2022 first-half financial results and provides a corporate update

Retrieved on: 
Thursday, September 22, 2022
Adult, Chronic liver disease, Liver, Lists of diseases, EIB, Face, Boston, Sino Biopharmaceutical Limited, Patient, Clinical trial, USD, United Kingdom, Pharmacology, Non-alcoholic fatty liver disease, Research, ISIN, COVID-19, Company, European Investment Bank, Dijon, Lyon, External commercial borrowing, VI, Obesity, Computational chemistry, Nasdaq, T2D, AASLD, FDA, NASH, MPS VI, IND, Virtual, Review, Partnership, Mucopolysaccharidosis, Biology, G&A, Conference, MPS, University, Psoriasis, Drug development, Type 2 diabetes, Factor X, Degenerative disease, Pharmacokinetics, AbbVie, DC, Animal, Pharmaceutical industry, Online gambling, Audit, Medical device, Airline, Nightclub, Euronext Paris, Euronext

Other operating income (expenses) amounted to 0.1 million in the first half of 2022 compared to (0.6) million in the first half of 2021.

Key Points: 
  • Other operating income (expenses) amounted to 0.1 million in the first half of 2022 compared to (0.6) million in the first half of 2021.
  • The Companys net loss stood at (29.5) million in the first half of 2022 compared to (23.1) million in the first half of 2021.
  • Net cash used in operating activities amounted to 26.2 million in the first half of 2022 compared to 19.8 million for the same period in 2021.
  • The financial statements of the first half of 2022 were approved by Inventivas Board of Directors on September 21, 2022.