Rare Diseases
Literature Review
First-ever Huntington staging system may jump-start drug development for early-stage disease
Researchers liken the Huntington’s disease Integrated Staging System (HD-ISS) to the system currently used to stage cancer.
FDA/CDC
FDA unveils 5-year plan for ALS and other neurodegenerative diseases
“We recognize the urgent need for new treatments that can both improve and extend the lives of people diagnosed with these diseases.”
Conference Coverage
Tofersen linked to slow, positive effects in ALS
One-year clinical trial results show a deceleration in functional decline that is similar, but “more pronounced” than the previously reported 6-...
Conference Coverage
Inebilizumab beneficial across genotypes in NMOSD
"These data illustrate how mechanistic precision in treatment design can help patients gain benefit from their regimen regardless of the genetic...
FDA/CDC
FDA expands indication for spinal muscular atrophy drug
After 12 months of risdiplam treatment, the majority of presymptomatic infants with SMA reached key motor milestones.
Supplement
Spotlight on SMA, Part 2: The Spinal Muscular Atrophy Treatment Landscape
FDA/CDC
FDA approves oral form of ALS drug edaravone
Compared with the IV formation of the drug, the oral form has been shown to generate comparable levels of active drug in the bloodstream.
Guidelines
Myositis guidelines aim to standardize adult and pediatric care
These are the first guidelines on how to manage adult and pediatric patients with idiopathic inflammatory myopathies (IIM).
Latest News
New data confirm risk of Guillain-Barré with J&J COVID shot
Nearly all individuals who developed GBS after the Janssen vaccine had facial weakness or paralysis, in addition to weakness and decreased...
Latest News
A gruesome murder changes two docs’ lives, and one was the killer
“Four years later, his patients were still shocked about what happened and couldn’t reconcile the person they knew with the event that happened...
Conference Coverage
Steroids counter ataxia telangiectasia
Red blood cells infused with dexamethasone sodium phosphate delayed symptom progression and improved survival.
From the Journals
Restless legs syndrome occurs often in X-linked adrenoleukodystrophy
Patients with restless legs syndrome showed less brain demyelination than those without RLS.