Alpha-1 antitrypsin deficiency (AATD) is found to be associated with pregnancy-related complications and adverse birth ...

Fingolimod treatment leads to beneficial effects in Huntington disease (HD), according to a new study in a mouse model of the ...

ATTR-PN diagnosis requires a combination of neurological and non-neurological tests, such as blood pressure monitoring, a study found.

Overall, 80.9% of patients were in complete remission 1 year after diagnosis irrespective of GPA or MPA cases (79.7% vs 83.8%, respectively). The therapeutic armamentarium for individuals with ...

The navenibart phase 3 program will consist of the ALPHA-ORBIT phase 3 trial and the long-term extension trial, which are designed to support registration globally. Global start-up activities ...

Nusinersen, an SMN2-targeted antisense oligonucleotide drug administered by intrathecal injection, was able to improve motor function and survival. Treatment with nusinersen can improve motor function ...

There were fewer multiorgan transplants in patients with hereditary ATTR-CM with increased use of disease-modifying therapies, a study found.

Ocular manifestations of MPA are uncommon, but early recognition may allow for prompt initiation of appropriate treatment to prevent further complications. An elderly man with retinal vasculitis was ...

Magnetic resonance imaging of the brain and spinal cord revealed lesions typical of patients with MS. The report highlighted the challenges in the diagnosis and management of this type of case, given ...

The adolescent HAE population continue to experience unique challenges to their school and social lives that degrade their health-related quality of life. Adolescents with hereditary angioedema (HAE) ...

These markers could serve as indicators of disease severity and progression, offering potential tools for personalized therapeutic intervention. Neurophysiological and ultrasonographic features can ...

Dr. Bichell is part of a panel studying how the US FDA can speed up clinical trials and be more transparent about its decisions. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...