Eric Wallace, MD, discusses Anderson-Fabry disease and the difficulties associated with screening, testing, and treatment.
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Quick Facts about Fabry Disease
Occurs in ~1 in 10,000 individuals, according to recent newborn screening studies
Caused by a mutation of the α-galactosidase A (GLA) gene
Can affect major organs, such as the kidney, heart, brain, and skin
Average age of diagnosis is 35 years old
Classic type: Symptoms appear at early age; worsens with age progression
Late-onset: Symptoms don't present until age 30 or older
Males are typically more severely affected than females
Main treatment options include enzyme replacement therapy and oral chaperone therapy; no cure exists
Quotes of Interest
It doesn't spare anybody — as far as race.
It's getting to the point where we really are running out of excuses [...] that we should not test.
There are still unmet needs as it relates to cardiac outcomes and CNS outcomes.
One of the great things is that there's a lot of research. One of the problems with a lot of research going on all at once is that there's a limited amount of patients.
If you are already working with patients with Fabry disease, you need to know that the field is changing very very quickly.
“Imagine every cell in your body has this buildup of trash that has been building up since birth,” explained nephrologist Eric Wallace, MD, Director of Telehealth, University of Alabama at Birmingham, in regard to Anderson-Fabry disease.
“Well, now, later on in life, the organs don’t work as well,” he continued.
Resulting from mutations of the α-galactosidase A (GLA) gene, Fabry disease is marked by the impairment of lysosome function. As a result, particular compounds and intracellular structures are unable to be digested or be broken down.
The big-picture result of this disorder is pain as well as potential nephrological, cardiological, neurological, and dermatological complications.
As a multisystemic disorder, Fabry can increase risk for an enlarged heart, kidney disease, Alzheimer’s disease, gastrointestinal involvement, angiokeratomas—to name just a few symptoms.
In this episode of the Rare Disease Report podcast, Wallace discussed the cause of Fabry disease, which populations or types of patients are most likely to be diagnosed with the genetic disorder, current screening methods and gaps, and any ongoing research.
He provided essential perspective as a nephrologist with hands-on experience working with such patients.
Wallace has advocated for a stronger focus on maintaining and treating kidney health, thus calling for ensuring regular monitoring as part of the standard of care among Fabry patients.
HCPLive® and Rare Disease Report® are proud to present the second installment of a new podcast series that will provide a platform for experts and advocates to share their knowledge, tell their story, and augment the discussion surrounding diseases that have—for too long—fallen beneath the radar.
Final TELIGAN data show telitacicept cut confirmed 30% eGFR decline by 89% and reduced proteinuria by 60.7% vs placebo over 2 years in IgA nephropathy.
In TRANSCEND-CKD, retatrutide reduced UACR by 49.2% vs placebo and lowered intraglomerular pressure and kidney fat without changing measured GFR at 24 weeks.
Ravulizumab cut proteinuria 43.4% vs placebo at week 34 in I CAN, making it the first C5 inhibitor approved for IgA nephropathy under accelerated approval.
An NHANES analysis finds 82.3% of 9.1 million US adults eligible for kidney-protective GLP-1 RA therapy are unaware of their CKD, with no improvement over a decade.
Long-term extension data show iptacopan held a −3.49 mL/min/1.73 m² per year eGFR slope over 48 months, with benefit emerging after patients switched from placebo.
Final 96-week phase 1b data show sustained UPCR reduction and stable eGFR about 1.5 years after the last mezagitamab dose, with no serious adverse events.
Final VISIONARY data show sibeprenlimab held eGFR steady over 24 months, with a 4.5 mL/min/1.73 m² per year slope advantage and fewer kidney outcome events vs placebo.
