GM2 gangliosidoses

Azafaros’ Phase 2 RAINBOW study, evaluating nizubaglustat in GM2 and NPC patients, is now fully enrolled

Retrieved on: 
Monday, December 11, 2023
Patient, NPC, GM1, GM2, Lead, MD, Glycogen storage disease, Clinical trial, Pharmacokinetics, DSM-IV codes, GM2 gangliosidoses, Niemann–Pick disease, Safety, RAINBOW, Pharmaceutical industry

The success in enrollment is a major milestone for Azafaros’ lead asset, nizubaglustat, which is being developed to treat patients with GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NPC).

Key Points: 
  • The success in enrollment is a major milestone for Azafaros’ lead asset, nizubaglustat, which is being developed to treat patients with GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NPC).
  • The 12-weeks study is a randomised, double-blind, placebo-controlled, multi-center trial which evaluates the safety, tolerability, pharmacokinetics, and pharmacodynamics across two doses of nizubaglustat in patients with GM2 gangliosidosis and NPC.
  • The trial is being conducted at sites across Brazil, with safety, pharmacokinetic and pharmacodynamic data from ongoing patient follow-ups expected in mid-2024.
  • We would like to thank all patients, their families, patient organisations and clinicians for their participation and support in this important research.”

Sandhoff Disease Drug Research Report 2022: Comprehensive Insights About 5+ Companies and 5+ Pipeline Drugs Featuring IntraBio, Sanofi, Polaryx Therapeutics, & Azafaros - ResearchAndMarkets.com

Retrieved on: 
Monday, October 24, 2022
Health, Pharmaceutical, News, GM2 gangliosidoses, Therapy, Glucose, GSL, Clinical trial, NDA, HIV disease progression rates, Sanofi, II, Technology, III, Discovery, Tay–Sachs disease, Cell death, Acquisition, Safety, Brain, Cerebellum, Pharmaceutical industry, Sandhoff disease

The "Sandhoff disease - Pipeline Insight, 2022," report provides comprehensive insights about 5+ companies and 5+ pipeline drugs in Sandhoff disease pipeline landscape.

Key Points: 
  • The "Sandhoff disease - Pipeline Insight, 2022," report provides comprehensive insights about 5+ companies and 5+ pipeline drugs in Sandhoff disease pipeline landscape.
  • The assessment part of the report embraces, in depth Sandhoff disease commercial assessment and clinical assessment of the pipeline products under development.
  • The companies and academics are working to assess challenges and seek opportunities that could influence Sandhoff disease R&D.
  • The companies which have their Sandhoff disease drug candidates in the most advanced stage, i.e.

Azafaros Announces FDA Grant of Orphan Drug Designation for AZ-3102 in the Treatment of Niemann-Pick Disease

Retrieved on: 
Thursday, March 24, 2022
FDA, Health, Research, Pharmaceutical, Science, Biotechnology, Disease, Cell, Cholesterol, NPC1, Niemann–Pick disease, Therapy, Metabolic disorder, Cytoplasm, GCS, Trial of the century, Clinical trial, Tay–Sachs disease, ODD, Liver, Lists of diseases, Spleen, GM2 gangliosidoses, GBA2, Food, Glycogen storage disease, Glycosphingolipid, NPC, NP-C, Tremor, NPC2, US Food Sovereignty Alliance, Brain, Leiden University, NP, GM2, Courage, Enzyme, FDA, Protein, Patient, GM1, Pharmaceutical industry

Azafaros B.V. today announced that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for AZ-3102, a novel small molecule with a unique dual mode of action, in Niemann-Pick disease type C (NP-C).

Key Points: 
  • Azafaros B.V. today announced that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for AZ-3102, a novel small molecule with a unique dual mode of action, in Niemann-Pick disease type C (NP-C).
  • The compound already received ODD from the FDA for GM2 Gangliosidosis including both Sandhoff and Tay-Sachs diseases.
  • Azafaros completed a first-in-human clinical trial with AZ-3102 in healthy volunteers in 2021 and received Orphan Drug Designation in GM2 Gangliosidosis from the FDA in February 2022.
  • Azafaros is supported by a syndicate of leading Dutch and Swiss investors including Forbion, BioGeneration Ventures, BioMedPartners and Schroder Adveq.

Azafaros Presents Positive Clinical and Preclinical Data Supporting Development of Lead Compound AZ-3102 in Lysosomal Storage Disorders at the 18th Annual WORLDSymposium™ Conference

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Monday, February 14, 2022
Health, Genetics, Clinical Trials, Research, Science, Pharmaceutical, Biotechnology, LSD, Diarrhea, Patient, GCS, Tremor, Glycosphingolipid, Brain, Animal, Enzyme, CA, Lists of diseases, GM2 gangliosidoses, Neuropathology, Safety, Posture, Infant, Therapy, Pharmacology, Cerebrospinal fluid, NPC, GM1, Gait, Scale, Courage, Survival, Purkinje cell, Disease, CSF, Blood, Assessment, Metabolism, Niemann–Pick disease, Pharmacokinetics, GBA2, SARA, Pharmaceutical industry, Purkinje, Ataxia, Sandhoff disease

Azafaros B.V. announced positive clinical data from its first-in-human Phase 1 study with AZ-3102, the companys lead program in development as a potential treatment for pediatric neurogenetic lysosomal storage disorders (LSDs).

Key Points: 
  • Azafaros B.V. announced positive clinical data from its first-in-human Phase 1 study with AZ-3102, the companys lead program in development as a potential treatment for pediatric neurogenetic lysosomal storage disorders (LSDs).
  • All four presentations were made at the 18th Annual WORLDSymposium, held February 7 11, 2022, in San Diego, CA.
  • AZ-3102 is designed to selectively inhibit two enzymes involved in glycosphingolipid metabolism, called glucosylceramide synthase (GCS) and non-lysosomal glucosylceramidase (GbA2).
  • Stefano Portolano, Chief Executive Officer of Azafaros, stated, The presentations at this years WORLDSymposium conference demonstrate the exciting potential of AZ-3102 in rare metabolic diseases.

Azafaros Receives FDA Orphan Drug Designation for AZ-3102 in GM2 Gangliosidosis

Retrieved on: 
Tuesday, February 1, 2022
FDA, Pharmaceutical, Health, Clinical Trials, GCS, GM1, Patient, Food, Seizure, Lists of diseases, Clinical trial, ODD, Brain, Speech, Leiden University, Death, US Food Sovereignty Alliance, GM2, Disease, Frasier, AB, Dysphagia, Enzyme, Tay–Sachs disease, Courage, GBA2, Gangliosidosis, Survival, GM2 gangliosidoses, FDA, Therapy, Lipid, Neurogenetics, Ganglioside, CA, Pharmaceutical industry, Sandhoff disease, AZ-3102, Azafaros, AZ-3102, AZAFAROS

Azafaros B.V. today announced that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for AZ-3102, a novel oral small molecule, in GM2 gangliosidosis including both Sandhoff and Tay-Sachs diseases.

Key Points: 
  • Azafaros B.V. today announced that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for AZ-3102, a novel oral small molecule, in GM2 gangliosidosis including both Sandhoff and Tay-Sachs diseases.
  • The ODD for GM2 gangliosidosis has been granted based on efficacy demonstrated in a Sandhoff mouse model, including a clear effect on animal survival.
  • Orphan Drug Designation by the US FDA provides drug developers with special status and incentives to facilitate the development of therapeutics for rare diseases affecting fewer than 200,000 people in the US.
  • Azafaros completed a first-in-human clinical trial with AZ-3102 in healthy volunteers in 2021 and received Orphan Drug Designation in GM2 Gangliosidosis from the FDA in February 2022.

Taysha Gene Therapies Announces Positive Initial Biomarker Data For TSHA-101, the First Bicistronic Gene Therapy in Clinical Development, Demonstrating Normalization of β-Hexosaminidase A Enzyme Activity in Patients With GM2 Gangliosidosis

Retrieved on: 
Thursday, January 27, 2022
Biotechnology, Health, Genetics, Pharmaceutical, Clinical Trials, GM2 gangliosidoses, CEO, Respiratory tract, Month, Nasdaq, Program, Adult, Forward-looking statement, Gene, Pneumonia, European Commission, COVID-19, MRCP, HEXB, Central nervous system, SEC, Royal commission, U.S. Securities and Exchange Commission, Private Securities Litigation Reform Act, AAV, GM2, DSMB, ET, Tay–Sachs disease, FFPM, Disease, Annual report, ID, MRSA, Drug development, Patient, Infant, HEXA, Quality of life, Death, Pleural effusion, Sandhoff disease, CNS, MRCPCH, CHB HEX N-terminal domain, Human, FDA, Webcast, Hex, Pharmaceutical industry, Vaccine, Research, MBBS

TSHA-101 demonstrated expression of both HEXA and HEXB genes in the endogenous ratio, providing the ability to restore and normalize enzyme activity in GM2 gangliosidosis.

Key Points: 
  • TSHA-101 demonstrated expression of both HEXA and HEXB genes in the endogenous ratio, providing the ability to restore and normalize enzyme activity in GM2 gangliosidosis.
  • We expect to provide continued updates on the program, with additional clinical data anticipated by the end of 2022.
  • Based on natural history data, patients with asymptomatic GM2 gangliosidosis have Hex A enzyme levels that are at least 5% of normal activity.
  • TSHA-101 is an investigational gene therapy that delivers both the HEXA and HEXB genes that comprise the -hexosaminidase A enzyme.

Taysha Gene Therapies Receives Orphan Drug Designation from the European Commission for TSHA-101 for the Treatment of Infantile GM2 Gangliosidosis

Retrieved on: 
Wednesday, September 29, 2021
Other Health, Research, General Health, Pharmaceutical, Consumer, Genetics, Children, Clinical Trials, Science, Baby, Maternity, Biotechnology, Health, U.S. Securities and Exchange Commission, Sandhoff disease, CNS, Food, Diagnosis, HEXA, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Annual report, Hex, MRCP, Private Securities Litigation Reform Act, FDA, Patient, GM2, Infant, Development, Central nervous system, Adult, Gene, FFPM, Royal commission, Death, Tay–Sachs disease, Life, European Union, Disease, COVID-19, CHB HEX N-terminal domain, Prognosis, Union, Drug development, European Commission, Survival, Forward-looking statement, AAV, Quality of life, HEXB, Nasdaq, MRCPCH, GM2 gangliosidoses, SEC, Pharmaceutical industry

GM2 gangliosidosis is a fatal neurodegenerative disease caused by deficiency in the lysosomal enzyme -hexosaminidase A, also known as Hex A.

Key Points: 
  • GM2 gangliosidosis is a fatal neurodegenerative disease caused by deficiency in the lysosomal enzyme -hexosaminidase A, also known as Hex A.
  • GM2 gangliosidosis is a rare and fatal monogenic lysosomal storage disorder that is part of a family of neurodegenerative genetic diseases that includes Tay-Sachs and Sandhoff diseases.
  • There are no approved therapies for the treatment of the disease, and current treatment is limited to supportive care.
  • Orphan designation in the European Union includes benefits such as protocol assistance, reduced regulatory fees and market exclusivity.

Polaryx Therapeutics Announces FDA Grants Orphan Drug Designation for PLX-200 in GM2 Gangliosidoses

Retrieved on: 
Monday, August 30, 2021
Hearing, Ganglioside, Niemann–Pick disease, Glycogen storage disease, Tay–Sachs disease, RXR, Drug development, Therapy, Lists of diseases, GM2, Gene, Lysosome, Trial of the century, Sandhoff disease, HEXB, Seizure, EB, Food, Disease, Neuron, LLM, Inflammation, Lysosomal storage disease, Board, Neurodegeneration, HEXA, Enzyme, Patient, CEO, Hexosaminidase, Apoptosis, TFEB, PPAR, FDA, Gangliosidosis, GM2 gangliosidoses, Nervous system, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Pharmaceutical industry, Vaccine

PARAMUS, N.J., Aug. 30, 2021 /PRNewswire/ --Polaryx Therapeutics, Inc. ("Polaryx"), a biotech company developing small molecule therapeutics for lysosomal storage disorders, announced today that the U.S. Food and Drug Administration ("FDA") has granted Orphan Drug Designation for PLX-200 to treat GM2 gangliosidoses.

Key Points: 
  • PARAMUS, N.J., Aug. 30, 2021 /PRNewswire/ --Polaryx Therapeutics, Inc. ("Polaryx"), a biotech company developing small molecule therapeutics for lysosomal storage disorders, announced today that the U.S. Food and Drug Administration ("FDA") has granted Orphan Drug Designation for PLX-200 to treat GM2 gangliosidoses.
  • "We are very pleased to be granted Orphan Drug Designation for PLX-200 from the FDA for the treatment of GM2 gangliosidoses.
  • Furthermore, this designation validates the rationale for clinical use of PLX-200 in GM2 gangliosidoses patients.
  • Polaryx Therapeutics, Inc. is developing drug candidates for lysosomal storage disorders, for which there are currently no safe and patient-friendly treatment options available.

Azafaros Appoints Stefano Portolano, M.D., as Chief Executive Officer

Retrieved on: 
Wednesday, June 30, 2021
Health, Genetics, Other Science, Research, Science, Pharmaceutical, Biotechnology, Lipid storage disorders, Rare diseases, Glycolipids, Gangliosidosis, GM2 gangliosidoses, Branches of biology, GM2, Lluís Companys, GM1, Health, Spanish politicians, Dr. Stefano Portolano, Azafaros, DR. STEFANO PORTOLANO, AZAFAROS

Azafaros B.V. today announced that Stefano Portolano, M.D., has joined Azafaros as Chief Executive Officer (CEO) and has concurrently been appointed to the Board of Directors of the company.

Key Points: 
  • Azafaros B.V. today announced that Stefano Portolano, M.D., has joined Azafaros as Chief Executive Officer (CEO) and has concurrently been appointed to the Board of Directors of the company.
  • We are very happy to welcome Stefano to Azafaros as the company progresses further into clinical development.
  • "Stefano joins an outstanding team that is rapidly advancing lead candidate AZ-3102, the companys proprietary orally-available azasugar molecule for the treatment of GM1 and GM2 gangliosidoses.
  • Since the companys inception in 2018, Azafaros has made remarkable progress by building a strong and committed organization that has reached the clinic in less than three years, said Stefano Portolano, M.D., Azafaros' Chief Executive Officer.

Sanofi provides update on venglustat clinical program

Retrieved on: 
Tuesday, June 1, 2021
Rare diseases, Medical specialties, Lipid storage disorders, Clinical medicine, Kidney diseases, Health, Autosomal dominant polycystic kidney disease, Channelopathies, Polycystic kidney disease, Gangliosidosis, GM2 gangliosidoses, Sanofi

PARIS JUNE 1, 2021 A pivotal Phase 2/3 study of venglustat in autosomal dominant polycystic kidney disease (ADPKD) did not meet futility criteria, and the company has halted the clinical program in ADPKD.

Key Points: 
  • PARIS JUNE 1, 2021 A pivotal Phase 2/3 study of venglustat in autosomal dominant polycystic kidney disease (ADPKD) did not meet futility criteria, and the company has halted the clinical program in ADPKD.
  • Sanofi has both completed and active studies evaluating venglustat in Gaucher diseasetype 3, Fabry disease and GM2 Gangliosidosis.
  • Venglustat is currently under clinical investigation and its safety and efficacy have not been evaluated by any regulatory authority.
  • With more than 100,000 people in 100 countries, Sanofi is transforming scientific innovation into healthcare solutions around the globe.