Fabry Disease News and Research

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Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms.

Adeno-associated virus: The gene therapy revolution faces manufacturing and safety hurdles

Recombinant adeno-associated virus (rAAV)-based genetic applications to treat human diseases.

5 Apr 2024

Cell therapy using genome-edited iPS cells could be a new treatment for Fabry disease

Induced pluripotent stem (iPS) cells have a great impact on biology and medicine, and they are expected to improve regenerative medicine.

3 Jul 2023

Canadian pilot study uses gene therapy to successfully treat patients with Fabry disease

Results of a world-first Canadian pilot study on patients treated with gene therapy for Fabry disease show that the treatment is working and safe.

25 Feb 2021

A143T variant of the GLA gene likely to cause late-onset Fabry cardiomyopathy

The A143T variant of the GLA gene is associated with an increased risk of Fabry cardiomyopathy, according to a new study.

13 Feb 2020

FDA approves first oral medication for treatment of adults with Fabry disease

The U.S. Food and Drug Administration today approved Galafold (migalastat), the first oral medication for the treatment of adults with Fabry disease.

10 Aug 2018

Canadian researchers use gene therapy to treat patient with Fabry disease

A team of Canadian physicians and researchers is believed to be the first in the world to have used gene therapy to treat a patient with Fabry disease, a rare inherited enzyme deficiency that can damage major organs and shorten lifespan.

16 Feb 2017

Review shows lipid nanoparticles as highly promising delivery systems in gene therapy

Lipid nanoparticles (SLNs and NLCs) are regarded as highly promising systems for delivering nucleic acids in gene therapy.

14 Feb 2017

FDA clears Sangamo BioSciences' SB-318 IND application for treatment of MPS I

Sangamo BioSciences, Inc., the leader in therapeutic genome editing, announced that the U.S. Food and Drug Administration has cleared the Company's Investigational New Drug (IND) application for SB-318, a single treatment strategy intended to provide a life-long therapy for Mucopolysaccharidosis Type I (MPS I).

8 Feb 2016

Neurocutaneous disorders affect skin, nervous system

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.

25 Jan 2016

BfArM approves Greenovation’s moss-aGal phase I clinical trial for Fabry disease

Greenovation Biotech GmbH announced today that it has received approval to begin a phase I clinical trial in Europe for its first drug candidate moss-aGal (agalsidase) from Germany's regulatory authority, the Federal Institute for Drugs and Medical Devices (BfArM).

15 Sep 2015

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare disorders, announced today the submission to the Comisión Federal para la Protección contra Riesgos Sanitarios in Mexico for Kanuma as a treatment for patients with lysosomal acid lipase deficiency (LAL Deficiency), a rare genetic disease with significant morbidity and early mortality.

30 Mar 2015

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Lysosomes are subcellular organelles that are present in most cells, with the major exception of red blood cells.

8 Jul 2014

Study finds link between elevated urinary Gb3 and heart disease

A special newly discovered biomarker, "Gb3," potentially related to the survival of heart disease patients, could change the way the country's No. 1 killer is monitored in the future, according to research published in the Feb. 4 edition of the Journal of the American Heart Association.

11 Mar 2014

Genetic condition that attacks multiple organs can be detected using new MRI technique

A genetic condition that attacks multiple organs and usually results in fatal heart problems can be detected using a new MRI technique that was developed at the University of Alberta. The discovery of this new diagnostic tool has resulted in updated clinical guidelines for the diagnosis and treatment of Fabry disease in Canada.

3 Oct 2013

Biogen Idec, Amicus Launch Parkinson's Collaboration

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10 Sep 2013

Genzyme marks 2013 International Rare Disease Day

Genzyme, a Sanofi company, today announced its support of International Rare Disease Day with a series of initiatives meant to call attention to rare diseases as an important public health issue and to improve rare disease education, research, and treatment.

28 Feb 2013

Sangamo BioSciences fourth quarter revenues increase to $8.9 million

Sangamo BioSciences, Inc. today reported fourth quarter and full year 2012 financial results and accomplishments.

7 Feb 2013

Researchers initiate first gene therapy clinical trial for Fabry disease

Researchers in Calgary have launched the first gene therapy clinical trial in the world for Fabry disease, a rare inherited enzyme deficiency that can shorten the lifespan of people who have it by as much as 40 years.

24 Jan 2013

Researchers identify two new small 'chaperone' molecules that may treat Schindler/Kanzaki disease

University of Massachusetts Amherst researchers, experts in revealing molecular structure by X-ray crystallography, have identified two new small "chaperone" molecules that may be useful in treating the inherited metabolic disorder known as Schindler/Kanzaki disease.

10 Oct 2012

Shipment of Fabrazyme commences from Genzyme's FDA-and-EMA-approved Framingham plant

Genzyme, a Sanofi company, today announced that it has begun shipping Fabrazyme (agalsidase beta) produced at its newly approved plant in Framingham, Massachusetts. As previously communicated, patients in the U.S. are now able to return to full dosing in March. In addition, all new patients in the U.S. are eligible to begin Fabrazyme treatment, at full dosing levels.

2 Mar 2012