Rare Disease Report

Neurology

The angle of the superior cerebellar artery outlet can be useful for monitoring the progression of basilar artery dolichoectasia in patients with Pompe, according to results in the Orphanet Journal of Rare Diseases.
Pat Quinn, ALS Ice Bucket Challenge co-founder, rediscovers his voice. 
This morning, it was announced that everolimus (Afinitor DISPERZ) has become the first therapy to be specifically approved by the U.S. FDA to treat patients aged 2 years and older with tuberous sclerosis complex (TSC)-associated partial-onset seizures.
A new provisional patent was filed by Nutra Pharma Corporation to protect the intellectual property surrounding their development of a drug intended to treat amyotrophic lateral sclerosis.
 
QurAlis Corporation joins forces with investors MP Healthcare Venture Management (MPH), Amgen Ventures, and Alexandria Venture Investments to find a cure for ALS.
 
Researchers Clive Svendsen, PhD and Samuel Sances of the Cedars-Sinai Board of Governors Regenerative Medicine Institute in Los Angeles note that spinal neuron development can be initiated by the human brain’s tiniest blood vessels.
PTC Therapeutics, Inc. and the CDHI Foundation Inc. are partnering for a research collaboration that will hopefully advance the former’s Huntington’s disease program.
Using MRIs and computer models, researchers from the University of North Carolina School of Medicine were able to prove that babies who develop the fragile X syndrome have less white matter circuitry than infants who did not.
"A perspective on ‘cure’ for Rett syndrome” concluded that therapies should focus on improving patients’ quality of life, and expectations for a radical, rational treatment should not be “inflated beyond cautious optimism.
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