A specific set of small RNA molecules in the blood can help diagnose Fabry disease and monitor response to therapy, according to recent findings. The study, “A pilot study of circulating microRNAs as potential biomarkers of Fabry disease” was published in the journal Oncotarget. Fabry…
Reduced sweating observed in Fabry patients may be a consequence of nerve cell loss in sweat glands, particularly in women, a study has found. The study, “Quantification of sweat gland innervation in patients with Fabry disease: A case-control study,” was published in the Journal of the…
Early therapeutic intervention with enzyme replacement therapies (ERTs), along with a multidisciplinary follow-up, should be initiated at a young age in Fabry patients to promote the best outcomes and prevent disease progression in both adult and pediatric patients. These are the conclusions of the review, “Therapeutic goals…
Idorsia has enrolled the first patient in its MODIFY clinical trial, which will evaluate the potential of investigative oral monotherapy lucerastat as a treatment for adult patients with genetically confirmed Fabry disease. The Phase 3 trial (NCT03425539) will assess the safety and effectiveness of lucerastat in Fabry…
Early treatment with enzyme replacement therapies targeting the underlying cause of Fabry disease may help delay cardiac manifestations and heart disease progression in Fabry patients, according to Japanese researchers. Their study, “The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients,”…
Increased levels of fat molecules characteristic of Fabry disease are linked to lung function decline over time. Progressive airflow limitation in Fabry patients can be prevented by starting treatment early with replacement enzymes, according to a recent report. The study, “Pulmonary involvement in Fabry disease: effect…
Approximately one-third of Fabry disease patients have cognitive impairments, a feature more common in those who have a deficient blood supply to the brain (called cerebrovascular disease), according to researchers in Denmark. Their study, “Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study…
A specific genetic mutation of the GLA gene results in the development of atypical late-onset Fabry disease, a study found. The study, “Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation,” was published in Plos One. Fabry disease is caused by genetic…
Timely diagnosis of Fabry disease can prevent irreversible structural changes in the heart, a study reports. In their research, “Echocardiographic Assessment of Patients with Fabry Disease,” a Canadian team reviewed the characteristics of heart abnormalities associated with Fabry disease. Their article appeared in the Journal of…
A small fat molecule that accumulates in the tissues of Fabry disease patients may be used as a biomarker for early diagnosis in the absence of recognizable clinical symptoms, according to a case report. Globotriaosylsphingosine, or lyso-Gb3, is a fat molecule that is broke down by an enzyme called…
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