Rare Disease Advisor

Ravulizumab and Eculizumab Reduce Steroid Use and MG-Related Hospitalizations: Real-World Data

Per US claims data, patients with MG who received ravulizumab or eculizumab saw reductions in steroid use, crises, and ...
Rare Disease Advisor

Nearly 1 in 3 Children With NF1 Have Cardiac Abnormalities

Cardiac abnormalities appear to be common in children with neurofibromatosis type 1 (NF1), suggesting a need for surveillance ...
Rare Disease Advisor

EUSTAR Study Supports Using Stratified Cancer Surveillance in Patients With SSc

New research suggests that the timing of cancer and the site show distinct clinical-serologic associations in SSc, with ...
Rare Disease Advisor

Short Social Media Videos About Myasthenia Gravis Often Lack Reliability

Online videos about myasthenia gravis (MG) on 2 popular Chinese social media platforms are of moderate quality but have limited reliability.
Rare Disease Advisor

Discovery of 2 Distinct Human Brain Progenitors Offers New Avenue for SMA Research

Researchers discovered the hindbrain arises from distinct progenitors and grew functional hindbrain motor neurons for use in ...
Rare Disease Advisor

Combining MRI and Clinical Testing Helps Manage Dysphagia in Wilson Disease

Routine clinical test markers constitute the main early screening signal for swallowing difficulties caused by Wilson disease ...
Rare Disease Advisor

Avapritinib Sustains Responses and Improves Bone Density in Advanced SM

Avapritinib produced durable responses and favorable 4-year survival in first-line advanced systemic mastocytosis (SM).
Rare Disease Advisor

Patients Report High Satisfaction With Subcutaneous ITP Treatment

Patients with ITP treated with a subcutaneous thrombopoietin receptor agonist (TPO-RA) report high treatment satisfaction and strong adherence.
Rare Disease Advisor

Tofacitinib in RA-ILD: Trial Shows High Adverse Event Rates Alongside Biomarker Reductions

Patients with rheumatoid arthritis-associated ILD treated with tofacitinib had reduced disease activity and KL-6 levels, a study shows.
Rare Disease Advisor

Cough in PPF: Frequency, Causes, and Treatment

Cough is one of the most common and burdensome symptoms of PPF, affecting patients’ physical, emotional, and social ...
Rare Disease Advisor

POLG Analysis in Japanese Patients Reveals New Variant, Absence of Common European Variants

The results of a study of POLG variants in a Japanese population may explain why POLG-related disease is less common in Japan ...
Rare Disease Advisor

Plasma Exchange and Exchange Transfusion May Be Effective for FCS-Related Emergencies

Patients with FCS who received emergency treatment with plasma exchange or exchange transfusion showed marked improvement.