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September 21, 2018

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products ... Read more

September 17, 2018September 17, 2018

UBE3A Gene Reactivation Restores Neuron Physiology, But Not Behavioral Defects

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Neuron activity is impaired in nerve cells located in a specific brain region of genetically engineered mice that lack the UBE3A gene. This activity can be restored upon UBE3A reactivation in ... Read more

September 10, 2018September 10, 2018

Indotecan Shows Early Promise in Treatment of Angelman Syndrome

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Indotecan (LMP400), a compound already in Phase 1 clinical trials, showed promising results as an Angelman syndrome treatment, a mouse study reported. The study, “Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase ... Read more

September 7, 2018September 9, 2018

Cells Used to Model Angelman Syndrome in Labs May Have Genetic Defect, Study Contends

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Researchers have found a specific type of genetic defect in stem cells derived from a patient with Angelman syndrome that have been used as a laboratory model to study the ... Read more

August 31, 2018September 10, 2018

Dihydropyrimidine Dehydrogenase Deficiency Found in Boy Later Diagnosed with Angelman, Case Study Reports

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Angelman syndrome can occur alongside a condition called dihydropyrimidine dehydrogenase (DPD) deficiency, which has varying degrees of severity and elusive disease mechanisms, a case report suggests. A connection between the ... Read more

August 27, 2018August 27, 2018

Minocycline Fails to Show Clinical Benefits among Angelman Syndrome Patients in Phase 2 Trial

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Minocycline failed to demonstrate any clinical benefits in the treatment of children and young adults with Angelman syndrome, results of a Phase 2 clinical trial show. The study, “A randomized ... Read more

August 24, 2018August 24, 2018

Nonepileptic Myoclonus Doesn’t Affect Cognition, But Affects Quality of Life Significantly, Researchers Say

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Nonepileptic myoclonus is a common feature in Angelman adolescents and young adults, and although it does not affect consciousness or cause cognitive consequences, it can affect quality of life significantly, a ... Read more

August 20, 2018August 20, 2018

Neuralstem’s NSI-189 Named an Orphan Drug by FDA as Possible Angelman Treatment

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The U.S. Food and Drug Administration (FDA) has designated NSI-189 an orphan drug to help advance Neuralstem’s lead compound in development as a potential treatment of Angelman syndrome. Angleman “is a rare disease with significant ... Read more

August 17, 2018August 17, 2018

Tonic Inhibition Deregulation May Be Key to Understanding Angelman Syndrome, Researchers Believe

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Deregulation of the brain’s ability to filter real neural signals without becoming overloaded could be the key to understanding the variety and severity of symptoms experienced by Angelman syndrome patients, according ... Read more

August 10, 2018August 10, 2018

OV101 Safe, Well-tolerated, Shows Potential to Ease Symptoms in Angelman Patients, Phase 2 Results Suggest

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Treatment candidate OV101 showed a favorable safety profile and was well-tolerated in adults and adolescents with Angelman syndrome in a Phase 2 trial, according to a press release from Ovid ... Read more

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