Inborn errors of metabolism

AVROBIO Appoints Holly May as Chief Commercial Officer

Retrieved on: 
Tuesday, October 22, 2019
Biotechnology, Health, Genetics, Pharmaceutical, Clinical trials, Swedish Orphan Biovitrum, Inborn errors of metabolism, Master of Business Administration, Academic disciplines, Business

(NASDAQ: AVRO) (the Company), a Phase 2 clinical-stage gene therapy company, today announced the appointment of Holly May, MBA, a rare diseases leader with deep experience in commercial strategy and operations, as Chief Commercial Officer.

Key Points: 
  • (NASDAQ: AVRO) (the Company), a Phase 2 clinical-stage gene therapy company, today announced the appointment of Holly May, MBA, a rare diseases leader with deep experience in commercial strategy and operations, as Chief Commercial Officer.
  • Ms. May joins AVROBIO from SOBI, Inc. As SOBIs Vice President and Head of Commercial, Ms. May led all aspects of commercial strategy, operations and performance, working in therapeutic areas including immunology, hematology, inflammatory disease and inborn errors of metabolism.
  • With a wealth of experience in lysosomal storage disorders and commercial strategy, Holly is perfectly suited to spearhead the development of AVROBIOs commercial capabilities, said Geoff MacKay, AVROBIOs President and CEO.
  • AVROBIO explicitly disclaims any obligation to update any forward-looking statements except to the extent required by law.

AVROBIO Announces First Patient Dosed in Phase 1/2 Trial of Gene Therapy for Cystinosis

Retrieved on: 
Tuesday, October 8, 2019
Biotechnology, FDA, Health, Other Science, Research, Genetics, Science, Clinical trials, Inborn errors of metabolism, Branches of biology, Rare diseases, Health, Lysosomal storage diseases, Lipid storage disorders, Lysosomal storage disease, Cystinosis, CTNS, Glycogen storage disease type II, Gene therapy, Gaucher's disease, AVR-RD-04, Cystinosis, AVROBIO, Inc.

(NASDAQ: AVRO) (the Company) today announced that the first patient has been dosed in the Companys AVR-RD-04 investigational gene therapy program for cystinosis, a devastating lysosomal storage disease, in an ongoing Phase 1/2 clinical trial sponsored by academic collaborators at the University of California San Diego.

Key Points: 
  • (NASDAQ: AVRO) (the Company) today announced that the first patient has been dosed in the Companys AVR-RD-04 investigational gene therapy program for cystinosis, a devastating lysosomal storage disease, in an ongoing Phase 1/2 clinical trial sponsored by academic collaborators at the University of California San Diego.
  • The gene therapy is derived from the patients own hematopoietic stem cells, which are genetically modified to produce functional cystinosin, a crucial protein that patients with cystinosis lack.
  • The trial will enroll up to six patients with cystinosis, a rare inherited disease caused by a defect in the gene that encodes for cystinosin.
  • is a leading, Phase 2 gene therapy company focused on the development of its investigational gene therapy, AVR-RD-01, in Fabry disease, as well as additional gene therapy programs in other lysosomal storage disorders including Gaucher disease , cystinosis and Pompe disease.

Synlogic Presents Data from Phase 1/2a Study of SYNB1618 at the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM)

Retrieved on: 
Wednesday, September 4, 2019
Health, Genetics, Clinical trials, Pharmaceutical, Biotechnology, Medicine, Branches of biology, Health, Rare diseases, Intellectual disability, Phenylketonuria, RTT, Metabolism, Medical genetics, Inborn errors of metabolism, Transaminase

Ph.D., Professor of Pediatrics and Chief of Medical Genetics, University of Pittsburgh, on September 4, 2019 at the annual symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM) in Rotterdam.

Key Points: 
  • Ph.D., Professor of Pediatrics and Chief of Medical Genetics, University of Pittsburgh, on September 4, 2019 at the annual symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM) in Rotterdam.
  • Physicians, patients and families welcome the development of novel therapies like SYNB1618 that have the potential to impact the lives of all PKU patients.
  • SYNB1618 is also designed to metabolize Phe to phenylpyruvate (PP) via a second enzyme mechanism, L-amino acid transaminase (LAAD).
  • However, while Synlogic may elect to update these forward-looking statements in the future, Synlogic specifically disclaims any obligation to do so.

Comet Therapeutics Raises $28.5 Million Series A Financing to Support Development of Treatments Built Around Its Novel CoEnzyme A Platform

Retrieved on: 
Wednesday, June 19, 2019
Health, Biotechnology, Pharmaceutical, Other Health, Managed care, Metabolism, Underwater diving physiology, Inborn errors of metabolism

Comets platform has numerous potential applications including metabolic disorders, neuro-metabolic diseases, immuno-metabolic conditions and other life-threatening diseases.

Key Points: 
  • Comets platform has numerous potential applications including metabolic disorders, neuro-metabolic diseases, immuno-metabolic conditions and other life-threatening diseases.
  • Coenzyme A and its metabolites are literally at the heart of basic cellular functions like energy production and cellular regulation.
  • With this funding, we will quickly build out our team and advance the development of the CoMET Platform.
  • Comets platform has tremendous versatility and unique therapeutic potential, said Peter Van Vlasselaer, Ph.D., Chairman and Independent Director of Comet Therapeutics.

Gain Therapeutics SA Announces Closing of EU 2.5 Million Series A Financing to Develop Novel Brain-Penetrant Non-Competitive Pharmacological Chaperones for Rare Lysosomal Storage Diseases and CNS Indications

Retrieved on: 
Tuesday, February 19, 2019
Health, Biotechnology, Infectious diseases, Pharmaceutical, Research, Science, Branches of biology, Medical specialties, Medical genetics, Metabolism, Inborn errors of metabolism, Metabolic disorder, Lysosomal storage disease, Lysosome

Gain Therapeutics has already identified molecules for the treatment of a group of metabolic disorders called lysosomal storage disorders and some chronic degenerative diseases of the nervous system.

Key Points: 
  • Gain Therapeutics has already identified molecules for the treatment of a group of metabolic disorders called lysosomal storage disorders and some chronic degenerative diseases of the nervous system.
  • Riccardo Braglia (Helsinn Group Vice Chairman), commented: Gain Therapeutics, with a flexible and powerful platform technology, offers huge potential to identify orally available therapies for lysosomal storage and CNS disorders.
  • Gain Therapeutics is a preclinical stage biotech company developing a class of next generation brain-penetrant non-competitive pharmacological chaperones for the treatment of devastating diseases using the proprietary SEE-Tx technology.
  • The company has several discovery programs in lysosomal storage diseases and CNS indications at various stages of development, all of which validate the platform and offer significant partnering opportunities.

AVROBIO, Inc. Announces Updated Clinical Data from Ongoing Phase 1 and Phase 2 Studies for AVR-RD-01 Gene Therapy for Fabry Disease

Retrieved on: 
Wednesday, February 6, 2019
Health, Biotechnology, Pharmaceutical, Inborn errors of metabolism, Branches of biology, Rare diseases, Lipid storage disorders, Lysosomal storage diseases, Fabry disease, Gaucher's disease, Glycogen storage disease type II, Therapy, Gene therapy, Fabry

AVROBIO intends to utilize the plato platform in its gene therapy programs, starting in 2019 with the ongoing Phase 2 clinical program for AVR-RD-01 for Fabry disease and its planned AVR-RD-02 clinical program for Gaucher disease.

Key Points: 
  • AVROBIO intends to utilize the plato platform in its gene therapy programs, starting in 2019 with the ongoing Phase 2 clinical program for AVR-RD-01 for Fabry disease and its planned AVR-RD-02 clinical program for Gaucher disease.
  • Dr. Medin is the principal investigator of the FACTs team (Fabry disease Clinical research and Therapeutics) in Canada that is conducting the Phase 1 study.
  • AVROBIO is focused on the development of its gene therapy, AVR-RD-01, in Fabry disease , as well as additional gene therapy programs in other lysosomal storage disorders including Gaucher disease , cystinosis and Pompe disease.
  • 1 The official name of the FAB-201 Study is AVRO-RD-01-201, which is a Phase 2 trial of AVROBIOs investigational gene therapy, AVR-RD-01, in Fabry disease.

Takeda to Highlight Advancements in Rare Lysosomal Storage Disorders at Global Scientific Meeting

Retrieved on: 
Monday, February 4, 2019
Rare diseases, Lipid storage disorders, Medicine, Genetic genealogy, Medical genetics, Lysosomal storage disease, Leukodystrophy, Metachromatic leukodystrophy, Gaucher's disease, Lysosome, Inborn errors of metabolism, Sphingolipidoses

"This year we are pleased to demonstrate that Takeda is committed to supporting the lysosomal storage disorder community and to advancing treatment in areas of high unmet need," said Hartmann Wellhoefer, M.D., Vice President, Medical Affairs, Rare Disease and Internal Medicine, Global R&D, Takeda.

Key Points: 
  • "This year we are pleased to demonstrate that Takeda is committed to supporting the lysosomal storage disorder community and to advancing treatment in areas of high unmet need," said Hartmann Wellhoefer, M.D., Vice President, Medical Affairs, Rare Disease and Internal Medicine, Global R&D, Takeda.
  • [6]Hunter syndrome affects 1 in 162,000 total live births, and almost exclusively males.3
    Type 1 Gaucher disease is a rare, inherited metabolic condition, and the most common lysosomal disease.
  • [8]
    Metachromatic Leukodystrophy (MLD) is a rare, inherited disorder that affects the central nervous system (CNS).
  • Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Gastroenterology (GI), Neuroscience, and Rare Diseases.

Takeda to Highlight Advancements in Rare Lysosomal Storage Disorders at Global Scientific Meeting

Retrieved on: 
Monday, February 4, 2019
Branches of biology, Rare diseases, Neurological disorders, Lipid storage disorders, Medical specialties, Lysosomal storage disease, Leukodystrophy, Metachromatic leukodystrophy, Gaucher's disease, Lysosome, MLD, Inborn errors of metabolism

"This year we are pleased to demonstrate that Takeda is committed to supporting the lysosomal storage disorder community and to advancing treatment in areas of high unmet need," said Hartmann Wellhoefer, M.D., Vice President, Medical Affairs, Rare Disease and Internal Medicine, Global R&D, Takeda.

Key Points: 
  • "This year we are pleased to demonstrate that Takeda is committed to supporting the lysosomal storage disorder community and to advancing treatment in areas of high unmet need," said Hartmann Wellhoefer, M.D., Vice President, Medical Affairs, Rare Disease and Internal Medicine, Global R&D, Takeda.
  • [6]Hunter syndrome affects 1 in 162,000 total live births, and almost exclusively males.3
    Type 1 Gaucher disease is a rare, inherited metabolic condition, and the most common lysosomal disease.
  • [8]
    Metachromatic Leukodystrophy (MLD) is a rare, inherited disorder that affects the central nervous system (CNS).
  • Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Gastroenterology (GI), Neuroscience, and Rare Diseases.

Lysosomal Disease Treatments: Technologies and Global Markets

Retrieved on: 
Monday, September 17, 2018
Inborn errors of metabolism, Anatomy, Genetic genealogy, Lysosomal storage diseases, Rare diseases, Lipid storage disorders, Lysosome, Lysosomal lipase, Acid lipase disease

They are rare, inborn defects and have a combined incidence rate of 1 in 1,500 to 7,000 live births.

Key Points: 
  • They are rare, inborn defects and have a combined incidence rate of 1 in 1,500 to 7,000 live births.
  • In lysosomal storage diseases there is deficiency of 1 or more of themany catabolic enzymes that are located within the lysosome.
  • The last decade has witnessed major advances in our understanding of the clinical, biochemical and genetical aspects of lysosomal storage diseases.
  • U.S. is the major market for lysosomal storage disease treatment.

Perlara announces Glycogen Storage Diseases PerlQuest with the University of Notre Dame

Retrieved on: 
Wednesday, August 15, 2018
Hepatology, Inborn errors of carbohydrate metabolism, Rare diseases, Medicine, Health, Biology, Glycogen storage disease, Glycogen, Metabolism, Inborn errors of metabolism, Glycogen storage disease type III

SOUTH SAN FRANCISCO, Calif., Aug. 15, 2018 /PRNewswire/ --Perlara, a rare diseases drug discovery platform company partnering with highly motivated families and organizations, today announced a glycogen storage diseases collaboration with the University of Notre Dame and the Warren Family Research Center for Drug Discovery and Development.

Key Points: 
  • SOUTH SAN FRANCISCO, Calif., Aug. 15, 2018 /PRNewswire/ --Perlara, a rare diseases drug discovery platform company partnering with highly motivated families and organizations, today announced a glycogen storage diseases collaboration with the University of Notre Dame and the Warren Family Research Center for Drug Discovery and Development.
  • Glycogen storage diseases (GSD) are monogenic recessive inborn errors in metabolism involving genes that synthesize or degrade glycogen in cells and tissues of the body.
  • "We are excited to add Perlara to our collaborative project team seeking therapeutic leads for Cori and Pompe disease," says University of Notre Dame Professor and Warren Center Researcher Richard Taylor.
  • The University of Notre Dame is a private research and teaching university inspired by its Catholic mission.