An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. Doctor should assess the activity of the beta-glucocerebrosidase enzyme — the protein defective in Gaucher disease — in dried…
Updated, six-month data from a Phase 1/2 trial show a continued drop in the levels of two disease biomarkers in the first patient given a single infusion of AVR-RD-02, Avrobio’s experimental gene therapy for Gaucher disease type 1, the company announced. Results obtained by…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
A young man with Gaucher disease type 3 (GD3) developed fat deposits in the eye, called floaters, that impaired his vision despite long-term treatment with enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), a case study reports. A surgery called vitrectomy — in which the…
A newly identified mutation in a region of the GBA gene that lacks  information necessary to make the resulting beta-glucocerebrosidase (GCase) protein was found in a woman with Gaucher disease (GD) type 1. That condition is described in the case report, “A novel mutation deep within intron 7 of…
Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher disease — in a mouse model of the disorder, preventing neurodegeneration and prolonging survival, a recent study shows. The study, “Systemic AAV9 gene therapy using the synapsin I promoter…
Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low platelet counts among the risk factors for developing such complications, an Egyptian study reports. To enable early detection, the researchers recommend careful monitoring — even in the absence of clinical…
White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in people with Gaucher disease type 3, according to a small study that recommends comprehensive eye examinations for these patients. The study, “White vitreous opacities in five…
A patient with type 2 Gaucher disease received treatment with Prevail Therapeutics‘ investigational gene therapy PR001 under a compassionate use program, the company said. The treatment was administered following approval by an international regulatory authority. PR001 uses a modified, harmless version of an …
A single injection of a liver-targeted gene therapy in mice leads to sustained production of a working version of glucocerebrosidase, the altered enzyme in people with Gaucher disease, research shows. Carlos J. Miranda, PhD, from Freeline, will share these results in a talk titled “Liver-Directed AAV…
