Rare Diseases
FDA/CDC
FDA OKs new drug for Fabry disease
“The totality of clinical data suggests that Elfabrio has the potential to be a long-lasting therapy.”
Conference Coverage
U.S. incidence, prevalence of myasthenia gravis is rising
These new estimates are “significantly higher” than those from a prior U.S. analysis from 2003.
FDA/CDC
FDA gives fast-track approval to new ALS drug
“The FDA’s approval of Qalsody gives me hope that people living with this rare form of ALS could experience a reduction in decline in strength,...
Latest News
Study compares noninvasive treatments of cutaneous neurofibromas
The epidermis overlying cNF is normal, “so there is no reason to use nonselective or surgical methods and destroy a perfectly good epidermis when...
FDA/CDC
FDA OKs first drug for Rett syndrome
The drug is designed to treat the core symptoms of Rett syndrome by potentially reducing neuroinflammation and supporting synaptic function.
Feature
More data back Guillain-Barré risk with Janssen COVID shot
Observed GBS cases after the Janssen shot were 2 to 3 times greater than expected, based on background rates within 21 and 42 days of vaccination...
Hitting a Nerve
Diagnosing rare disorders
Advances in medical science don’t change the fact that human error never goes away.
Literature Review
High drug costs exclude most neurology patients from cutting-edge treatment
“Our study of people with neurologic conditions found that fewer than 20% were being treated with new medications.”
Guidelines
First recommendations for cancer screening in myositis issued
The guideline, based on data from a systematic review and meta-analysis and on consensus from an international team of experts and patients,...
Conference Coverage
Diazepam nasal spray effective in Lennox-Gastaut syndrome
A post hoc analysis shows that the drug works about as well in Lennox-Gastaut syndrome as in patients with pediatric encephalopathies.
Rare Diseases Report 2022
Rett syndrome: Looking to the future and the promise of gene therapy
Rett syndrome is entering an exciting stage – at which the words “treatment” and “cure” can be spoken with intent and vision, not just wide-eyed...