Prevail Therapeutics and Lonza Pharma & Biotech will collaborate in the development and production of Prevail’s PR001 gene therapy for children with type 2 Gaucher disease and for select patients with Parkinson’s disease, the companies announced. Prevail is looking to start recruiting patients with type 2, or pediatric…
Infants who are born encased in a tight and shiny membrane made of skin cells that resembles plastic wrap, and commonly called “collodion babies,” may have severe perinatal (fetal) Gaucher disease, a case report suggests. While the relationship between the two is fully established, this report highlights the importance…
Gaucher disease is not common in people with a group of disorders called plasma cell dyscrasias (PCDs), which include multiple myeloma. But screening for these disorders among Gaucher patients could be helpful, according to new research. The study, “Screening for Gaucher disease among patients with plasma cell…
Treatment with Cerezyme (imiglucerase), Sanofi Genzyme‘s enzyme replacement therapy, can effectively reverse severe pulmonary and liver complications triggered by Gaucher disease, a case report suggests. The study “Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy” was published in…
Patients with Gaucher disease type 1 may experience a complication involving the lower portion of the spinal cord, known as cauda equina syndrome, which causes long-term spine instability and neurodeficits if not treated early and with caution. Turkish researchers reported a rare case of such a complication in the study, “…
Elelyso (taliglucerase alfa) is safe for use by breastfeeding women with Gaucher disease, not representing a risk to the child, a case report shows. Researchers recommend this treatment can be given to women who are breastfeeding an infant, along with calcium supplements. Their letter detailing the case report, “…
Early and accurate diagnosis of Gaucher disease can prevent poor outcome in children and adolescents affected by the rare illness, a new case report from China suggests. The case was described in the study, “Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease:…
A newly identified mutation in the GBA gene causes errors in gene processing that trigger the development of Gaucher disease type 3 with progressive myoclonus epilepsy, a case report describes. The study, “Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss…
AVROBIO is advancing its gene therapy for Gaucher disease, AVR-RD-02, into a Phase 1/2 clinical trial after Health Canada raised no objections to its clinical trial application, the company announced. The trial is expected in 2019. “We are excited to have achieved this regulatory milestone as a step forward in our…
A new mutation on the DNA coding sequence of the beta-glucocerebrosidase enzyme was identified and linked to Gaucher disease (GD) type 1 in a Japanese patient, according to a case report. For patients with this mutation, positron emission tomography/computed tomography (PET/CT) imaging scans may provide a clue to Gaucher…