Enrollment has been completed for a Phase 3 clinical trial comparing PRX-102 (pegunigalsidase alfa) with Fabrazyme (agalsidase beta) for the treatment of Fabry disease. The BALANCE trial (NCT02795676) estimated enrolling 78 Fabry disease patients with impaired renal function who had been previously treated with Sanofi Genzyme’s…
Fabry disease is a rare genetic disorder that impairs the body’s ability to break down a type of fat called globotriaosylceramide (Gb3 or GL-3), due to the deficiency of an enzyme called alpha-galactosidase A. Accumulation of Gb3 inside cells causes a wide range of symptoms, some of which…
Nearly half of Fabry patients have amenable or responsive mutations to Galafold (migalastat) but show different responses to the therapy, according to a Swiss population study. The study found that patients with higher residual activity of the alpha-galactosidase A (GLA) enzyme — which is deficient in Fabry patients —…
A person with a rare genetic disease, such as Fabry disease, often needs extra help from a caregiver to cope with the challenges of the disease. If you are a caregiver, you are often under stress to meet the needs of the patient or family member that needs your…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
Heart cells derived from patients’ stem cells and grown in a lab dish can reveal important clues about the development of heart ailments associated with Fabry disease. The study, “A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology,” was published in…
I was amazed by all of the support available to us at the beginning of our treatment journey. We received phone calls to make sure we were managing our appointments and insurance paperwork. We got reminder emails and envelopes full of information in the mail. Our doctor and nurse…
The first patient in a Phase 1/2 clinical trial of Fabry disease gene therapy candidate FLT190 has been dosed. Enrollment is ongoing at the Royal Free Hospital, in London, U.K. More information and contacts are available here. Fabry disease is caused by a faulty GLA gene, which provides…
Fabry disease is a rare genetic disorder, which can make doctor visits much more complicated. Here are some tips to ensure that your doctor’s appointment is as fruitful as possible. Ensure you meet the right doctor Given the rarity of Fabry disease, it is very possible that your regular…
Like all genetic diseases, Fabry disease often poses a major concern for parents and caregivers of an affected child. Understanding the genetics of the disease can help in further family planning and in devising new therapies. What causes Fabry disease? Fabry disease is caused by mutations in the…
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