News

The U.S. Food And Drug Administration (FDA) has granted orphan drug status to Avrobio’s investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. AVR-RD-01 is being tested in two separate clinical trials that are still recruiting patients: AVRO-RD-01-201 Phase 2 trial (NCT03454893) and an investigator-sponsored Phase…

Protalix BioTherapeutics announced it has completed enrollment of its Phase 3 trial evaluating PRX-102 in Fabry disease patients previously treated with Shire’s Replagal (agalsidase alfa). The BRIDGE trial (NCT03018730) is an open-label switch-over study that will assess the safety and efficacy of PRX-102 in 22 patients with Fabry disease treated with Replagal for…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Globotriaosylsphingosine (LysoGb3) blood levels can be a useful and accurate biomarker to diagnose and monitor Fabry disease, rather than only using GLA mutational status, researchers suggest. The study, “Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?,” was published in the International Journal…

Fabry Stabilization index (FASTEX) is a valid, specific, and sensible instrument to accurately assess disease stability/progression in people with classic or non-classic Fabry disease, a large study showed. The results highlighted the value of using this tool in the clinical setting to monitor Fabry patients in a standardized way.

Use of Replagal — an enzyme replacement therapy (ERT) — during pregnancy and breastfeeding by women with Fabry disease appears to be safe for them and their children, according to a case series study. The study, “Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case…

To help reduce out-of-pocket medical expenses associated with managing and treating Fabry disease, an independent charitable patient assistance foundation has now added the disorder to its programs. Called The Assistance Fund (TAF), the organization assists eligible patients with insurance co-payments, coinsurance, deductibles, and other health-related expenses. Fabry disease…

Adjusting the dose of enzyme replacement therapy (ERT) for each patient may be essential to achieve complete neutralization of antibodies against the treatment, and reach better results to halt the progression of Fabry disease, according to a recent study. The study, “Dose-Dependent Effect of Enzyme Replacement…

Fabry disease patients who share the same genetic mutation in the GLA gene may experience different symptoms, a case report study has found. The study, “Clinical Diversity in Patients with Anderson-Fabry Disease with the R301Q Mutation,” was published in Internal Medicine. Fabry disease is a rare…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…