Rare Diseases

Newborn screening: How much function can presymptomatic treatment truly preserve?

Presymptomatic treatment after newborn screening aims to mitigate disease progression, but the extent of preserved function varies significantly across conditions.

Fabry Disease: Why Women Were Left Behind in Diagnosis and Treatment

Women with Fabry disease have historically faced significant diagnostic delays and undertreatment, stemming from outdated genetic assumptions and a lack of recognition of their diverse clinical presentations.

Fabry Disease: Why Early Recognition in Cardiology and Nephrology Clinics Remains Elusive

Fabry disease often presents with non-specific cardiac and renal symptoms, leading to significant diagnostic delays. Increased awareness and targeted screening in high-risk populations are essential for timely intervention.

Migalastat vs. ERT: How Fabry Chaperone Therapy Stacks Up

Migalastat, an oral chaperone, demonstrated non-inferiority to enzyme replacement therapy (ERT) in Fabry disease patients with amenable GLA mutations, offering a potential oral alternative.

Givinostat: Targeting the Downstream Disease in Duchenne Muscular Dystrophy

Givinostat, a histone deacetylase inhibitor, offers a non-genetic approach to Duchenne muscular dystrophy by addressing downstream disease mechanisms.

Duchenne Muscular Dystrophy: The Cardiac and Respiratory Surveillance That Changes Survival

Regular, proactive cardiac and respiratory monitoring is critical for Duchenne muscular dystrophy patients, directly impacting survival and quality of life.

Delandistrogene Moxeparvovec: Are Functional Endpoints Meeting Duchenne Expectations?

Delandistrogene moxeparvovec, an AAV micro-dystrophin gene therapy, has US FDA approval for Duchenne muscular dystrophy, but clinical benefit remains a point of contention.

Fabry Disease: When Enzyme Replacement Isn't Enough for Glycosphingolipid Buildup

Fabry disease treatment decisions now extend beyond enzyme replacement, incorporating chaperone therapy, substrate reduction, and gene therapy for optimal patient outcomes.

Newborn screening for lysosomal storage disorders: what earlier detection changes

Earlier detection of lysosomal storage disorders like Hunter syndrome and metachromatic leukodystrophy through newborn screening offers a critical window for intervention.