Rare Diseases
Conference Coverage
Gene-Replacement Therapy for SMA1 May Necessitate New Rating Measures to Capture Patients’ Motor Function Gains
CHICAGO—The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) was designed to track motor function...
From the Journals
Virus-specific T-cell infusion may resolve progressive multifocal leukoencephalopathy
One patient fully recovered and a second improved but had speech and mobility problems.
FDA/CDC
FDA approves new treatment for hereditary transthyretin-mediated amyloidosis
Inotersen inhibits the production of amyloid in patients with the rare disorder.
Conference Coverage
Identifying and Treating CNS Vasculitis
HILTON HEAD, SC—Vasculitis is a general term for a group of uncommon diseases involving inflammation of blood vessels,...
Conference Coverage
Diagnosis, Pathology, and Treatment of bvFTD Pose Challenges
HILTON HEAD, SC—Behavioral variant frontotemporal dementia (bvFTD), a clinically and pathologically heterogenous...
News
FDA Grants Fund Rare Disease Research
On September 24, 2018, the FDA announced that it awarded 12 new clinical trial research grants totaling more...
Literature Review
New System Classifies Idiopathic Inflammatory Myopathies
A new system that incorporates clinical and serologic data may help classify idiopathic inflammatory myopathies,...
Conference Coverage
Early Treatment Improves Outcomes in Neuromyelitis Optica Spectrum Disorder
HILTON HEAD, SC—Neuromyelitis optica spectrum disorder (NMOSD) can result in severe disability...
Daily News Podcast
Sprain an ankle, get an opioid
And beware a nasty skin souvenir from travel abroad.
From the Journals
Huntington’s progression tracks with levels of mutant huntingtin, neurofilament light
Conference Coverage
Huntington’s Disease Symptoms Vary by Age of Onset
MIAMI—The greater the age of Huntington’s disease onset, the lower the likelihood that the patient’s major symptom type at disease presentation...