Patisiran was associated with a moderate improvement in cardiac symptoms in patients with transthyretin amyloid cardiomyopathy (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.

Conducting a RCT of the Accessercise app among adults with physical disabilities, including achondroplasia, is feasible and acceptable.

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.

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

The change in extracellular volume is the only predictor of adverse outcome in patients with ATTR-CM treated with tafamidis, a study found.

The presence of intracutaneous amyloid deposition in asymptomatic TTR mutation carriers could be a predictive of ATTR-CM progression.

In patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), high levels of baseline blood urea nitrogen (BUN) are a risk factor for end-stage kidney disease (ESKD) and/or ...

Results of the ApproaCH trial showed that navepegritide improved AGV over placebo in pediatric patients with achondroplasia.

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench ...

From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of ...