Human Mutation

Inozyme Pharma Announces Investor and Analyst Event and Highlights 2022 Progress

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Monday, January 9, 2023
Pyrophosphate, Orphanet Journal of Rare Diseases, PXE, Degenerative disease, Caregiver, Master of Science, Mutation, PLOS One, PLOS, Dermatology, Western literature, Safety, Precision medicine, Hospital, ABCC6, Biology, Diagnosis, Therapy, Patient, Prevalence, Human Mutation, Research, Disease, Publication, ENPP1, Natural history study, Whole genome sequencing, Genetic distance, MBA, Infant, NIH, Dietary supplement, Pharmaceutical industry

BOSTON, Jan. 09, 2023 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (Nasdaq: INZY), a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of pathologic mineralization and intimal proliferation, today announced that it will share topline pharmacokinetic, pharmacodynamic (PK/PD) and safety data from the ongoing Phase 1/2 clinical trials of INZ-701 in ENPP1 Deficiency and ABCC6 Deficiency at a virtual Investor and Analyst Event on Thursday, Feb. 16, 2023.

Key Points: 
  • We also saw promising PPi elevation in our ABCC6 Deficiency trial, with a rapid initial increase at the lowest dose of INZ-701.
  • The Company will share topline pharmacokinetic, pharmacodynamic (PK/PD) and safety data from ongoing Phase 1/2 trials of INZ-701 in ENPP1 Deficiency and ABCC6 Deficiency.
  • The event will also feature presentations from members of the Inozyme management team, as well as from key opinion leaders in ENPP1 Deficiency and ABCC6 Deficiency.
  • The webcast will be accessible through the Investor Relations section of Inozyme’s website under events and will be available for a limited time following the event.

Inozyme Pharma Announces Publication of Comprehensive ENPP1 Variant Database

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Monday, October 31, 2022
Database, Generalized arterial calcification of infancy, Decision-making, Genomics, Blood, Diagnosis, Research, Partnership, Human Mutation, Knowledge, Awareness, Patient, Cancer, Genetic testing, Hearing loss, Mortality, Stroke, Skeleton, Disease, Company, Rickets, GLOBE, Population, ENPP1, Myocardial infarction, DNA, Osteomalacia, Review, Therapy, Nasdaq, Mutation, Laboratory, Pharmaceutical industry, Medical device

BOSTON, Oct. 31, 2022 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (Nasdaq: INZY), a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of pathologic mineralization and intimal proliferation, today announced the publication of an article titled, “ENPP1 Deficiency: A clinical update on the relevance of individual variants using a locus-specific database,” in Human Mutation. The Company partnered with leading disease experts and Genomenon, an AI-driven genomics company, to perform a comprehensive review of the current knowledge on clinical and genetic findings of ENPP1 Deficiency (GACI, generalized arterial calcification of infancy or ARHR2, autosomal recessive hypophosphatemic rickets type 2) and produce a comprehensive variant database.

Key Points: 
  • The Company partnered with leading disease experts and Genomenon , an AI-driven genomics company, to perform a comprehensive review of the current knowledge on clinical and genetic findings of ENPP1 Deficiency (GACI, generalized arterial calcification of infancy or ARHR2, autosomal recessive hypophosphatemic rickets type 2) and produce a comprehensive variant database.
  • These data shared by our collaborators suggest a larger population with ENPP1 Deficiency than previously understood.
  • The publication also showed that there was no clear genotype-phenotype correlation and that people with heterozygous mutations may also benefit from a therapeutic option.
  • Genomenon has worked with Inozyme for the past year to produce a comprehensive variant landscape for ENPP1 Deficiency, said Mark Kiel, M.D., Ph.D., chief science officer and co-founder of Genomenon.

New Study Presents Novel Solution to Increasing Diagnostic Yield and Accelerating Diagnosis of Rare Disease

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Monday, October 31, 2022
National Human Genome Research Institute, Database, Generalized arterial calcification of infancy, Genomics, National, Blood, Diagnosis, Research, Partnership, Human Mutation, Knowledge, NIH Intramural Research Program, Patient, Awareness, AI, Intramural sports, Cancer, Mortality, Hearing loss, Stroke, Skeleton, Disease, Rickets, ANN, Human, Population, ENPP1, Myocardial infarction, Paper, Doctor of Philosophy, Osteomalacia, Therapy, Nasdaq, Pharmaceutical industry, Medical device, MD, Mastermind

ANN ARBOR, Mich. , Oct. 31, 2022   /PRNewswire-PRWeb/ -- Genomenon, Inc., an AI-driven genomics company, announced the publication of a paper in Human Mutation summarizing current knowledge of clinical and genetic findings in patients with ENPP1 Deficiency. The study, completed in collaboration with Inozyme Pharma, is the largest ever gathered, and demonstrates the necessity of comprehensive genomic data for accelerating the diagnosis of rare disease.

Key Points: 
  • The study, completed in collaboration with Inozyme Pharma, is the largest ever gathered, and demonstrates the necessity of comprehensive genomic data for accelerating the diagnosis of rare disease.
  • The data has been made available to doctors, researchers, and clinicians through Genomenon's Mastermind Genomic Search Engine with the purpose of increasing awareness and diagnosis of the disease and related clinical trials.
  • Inozyme Pharma, Inc. (Nasdaq: INZY) is a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases impacting the vasculature, soft tissue, and skeleton.
  • INZ-701 is currently in Phase 1/2 clinical trials for the treatment of ENPP1 Deficiency and ABCC6 Deficiency.

GeneDx Announces Discovery of 200 New and Expanded Genetic Conditions

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Wednesday, March 16, 2022
Genomics, Patient, Human Mutation, Health, Mutation, Multimedia, Knowledge, Genetic variation, GeneMatcher, Genetic testing, Data, Database, Diagnosis, National, NASDAQ, Lists of diseases, OPKO Health, Research, Cancer, View, GeneDx, Gene, Pharmaceutical industry

GAITHERSBURG, Md., March 16, 2022 /PRNewswire/ -- GeneDx, Inc., a leader in genomic analysis, today announced newly published research demonstrating the value of data sharing and research participation on a platform that supports clinician connections to rapidly uncover new gene-disease relationships, an approach which has resulted in publication of more than 200 new associations.

Key Points: 
  • Despite the rapid advances of genetic medicine in the last 15 years, expanding knowledge about the connections between genetic variation and human health remains a critical need.
  • Through GeneDx's contributions, at least 200 new associations have been published in the past three years, reporting either new disease-gene relationships or expanded clinical information for known disease-causing genes.
  • Today roughly one-quarter of the clinically actionable findings provided to patients come from discoveries first made at GeneDx.
  • Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders.