Weekly Spotlight - 31.10.24

In the News

Chiesi Explores New Dosing Schedule for Fabry Disease Treatment

Chiesi is innovating in the treatment landscape for Fabry disease with findings from the Phase III BRIGHT study. The investigational drug pegunigalsidase alfa is now being evaluated at a new dosage of 2mg/kg every four weeks, compared to the standard 1mg/kg every two weeks. Initial results indicate that patients have tolerated the new dosing schedule well, potentially leading to fewer hospital visits and increased quality of life for patients. While these findings are promising, further exploration is warranted to assess the long-term implications of this new regimen.

X-Linked Adrenoleukodystrophy: Symptoms, Causes, and Treatments

X-linked adrenoleukodystrophy (ALD) is a genetic disorder characterized by mutations in the ABCD1 gene, primarily affecting males. This condition impacts the nervous system and adrenal glands, resulting in a range of neurological symptoms and adrenal insufficiency. ALD disrupts the myelin sheath surrounding nerve fibers, leading to cognitive decline and other complications. However, advancements in treatment, including gene therapy and stem cell transplants, are showing promise in managing disease progression. For individuals affected by ALD, knowledge of the condition and emerging treatment options is crucial for effective management.

Fabry Disease: Kids' Adventures Unhindered by Health Challenges

Fabry disease presents significant challenges, but the VanVickle family's experience demonstrates resilience and determination. Susanna VanVickle's twin sons, Michael and Anthony, both diagnosed with this rare condition, recently pursued a semester abroad in Europe despite the need for enzyme replacement therapy. Their travels included Anthony's studies in Italy and Michael's in Austria, illustrating that the demands of treatment need not hinder their pursuit of life experiences. Michael's recent adventure in Spain, which included a challenging encounter with a bull, exemplifies their fearless approach. This family's story underscores the importance of living fully, even in the face of health challenges.

Community

We want to hear your story!

Fill in the form to share your experiences and any challenges you’ve faced living with your condition, for a chance to be featured in one of our weekly newsletters!