Korean investigators have discovered a new mutation in the GLA gene — located on the X chromosome — that is likely associated both with Fabry disease and heart disease, according to a case report study. Titled “Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough…
Scientists have found evidence that a GLA gene variant of unknown pathogenicity — meaning its ability to cause disease was still unknown — can trigger kidney disorders associated with Fabry disease. Their findings were described in the study, “Renal globotriaosylceramide deposits for Fabry…
Heart cells derived from patients’ stem cells and grown in a lab dish can reveal important clues about the development of heart ailments associated with Fabry disease. The study, “A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology,” was published in…
A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to low alpha-galactosidase A (alpha-GAL A) activity and correlates with kidney symptoms linked to the disorder. The case report, “Functional evaluation of a novel GLA causative mutation…
Sperm abnormalities in men with Fabry disease do not compromise their fertility or overall reproductive function, a study finds. The findings of the study, “Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study,” were published in Basic and Clinical Andrology.
AMT-190, uniQure‘s investigational gene therapy for the treatment of Fabry disease, shows promise as a one-time therapy option that may someday replace enzyme replacement therapy (ERT) in this patient population. The findings were discussed in an oral presentation titled, “Development of an AAV5-Based…
Amicus Therapeutics‘ Galafold (migalastat) provides clinical benefit to patients carrying amenable Fabry disease mutations, regardless of disease severity, a Phase 3 trial shows. The findings of the study, “Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry…
Galafold (migalastat) increases the activity of alpha-galactosidase A, stabilizes serum biomarkers, and improves heart function in patients with amenable Fabry disease mutations, according to clinical results. The study, “Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year,” was…
Scientists discovered a new mutation in the GLA gene that leads to the production of a shorter protein in a Chinese patient with Fabry disease, correlating with kidney symptoms associated with the disease, a study reports. The study, “A novel α-galactosidase A splicing mutation predisposes to Fabry disease,”…
Enzyme replacement therapy (ERT) partially restores the function of lysosomes and mitochondria in patients with Gaucher and Fabry diseases, a study finds. The study, “Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases,” was published in PLOS One. Fabry and Gaucher…
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