Rare Diseases
Guidelines
New MIS-C guidance addresses diagnostic challenges, cardiac care
New updates in this third version of the American College of Rheumatology’s guidance include a recommendation for dual therapy with IVIg and...
Feature
Giant cell arteritis fast-track clinics pave way for greater ultrasound use in U.S.
Fast-track clinics are using vascular ultrasound to streamline diagnosis of giant cell arteritis, but the United States has a way to go to catch...
Latest News
Expected spike in acute flaccid myelitis did not occur in 2020
COVID-19 interventions may have reduced transmission of the associated enteroviruses.
Conference Coverage
Which agent is best for neuromyelitis optica?
Researchers conducted an indirect treatment comparison on the efficacy of the three FDA-approved treatment options for adults with AQP4+ NMOSD.
Feature
WHO unveils global roadmap to defeat meningitis by 2030
Conference Coverage
Synthetic triglyceride shows potential in Huntington’s disease
An extension study found that the synthetic medium-chain triglyceride triheptanoin improved brain energy and caudate atrophy in Huntington’s...
Conference Coverage
Friedreich’s ataxia treatment shows extended benefit
An extension study of the Nrf2 activator omaveloxolone in people with Friedreich’s ataxia showed benefit out to more than 2 years.
Literature Review
Lipid levels tied to ALS risk
The findings point to potential future biomarkers in screening for ALS.
FDA/CDC
FDA approves new enzyme replacement therapy for Pompe disease
The intravenous infusion supplements GAA and helps reduce glycogen accumulation.
Conference Coverage
Genetic testing for neurofibromatosis 1: An imperfect science
“If you fulfill diagnostic criteria for NF1, the main reasons for doing genetic testing are, one, if the family wants to know that information,...
From the Journals
Novel gene therapy ‘reprograms’ cells to reverse neurologic deficits in children with rare disease
Months after surgery to deliver a gene therapy, children saw complete resolution of oculogyric crises, a hallmark of their disease, and were able...