KIT inhibitors such as midostaurin may offer meaningful clinical benefit in patients with aggressive systemic mastocytosis.

Patisiran was associated with a moderate improvement in cardiac symptoms in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), a study found.

The US Food and Drug Administration (FDA) notified Sarepta Therapeutics that it may now lift the ban on the shipment of its Duchenne muscular dystrophy (DMD) drug, delandistrogene moxeparvovec ...

Using the new method, the researchers were able to successfully identify 15 cases of transthyretin mediated amyloid cardiomyopathy (ATTR-CM).

Tafamidis is linked to reduced all-cause mortality and a lower incidence of congestive heart failure exacerbations in ATTR-CM, a study found.

A multimodal approach combining vosoritide and limb lengthening led to gains in stature, gait, and emotional well-being in achondroplasia.

Neonatal anthropometric measurements may serve as indicators for the early detection of skeletal dysplasias, including achondroplasia.

Gaucher disease is caused by a mutation in the GBA1 gene, which encodes the enzyme lysosomal acid glucosylceramidase. This enzyme breaks down glucocerebroside to form glucose and ceramide within ...

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.

A patient with upper eyelid and submandibular swelling was eventually diagnosed and treated for IgG4-related disease.

A significant proportion of patients with B-cell ALL require third-line treatment, despite limited effective options.

Researchers developed a new clinical score to estimate the probability of NMOSD in patients presenting with optic neuritis.