Researchers
Skotko, Brian Gary OTH
Massachusetts General Hospital
INCLUDE Grants
Nicotinamide Adenine Dinucleotide Augmentation to Prevent or Reverse the Progression of Alzheimer’s Disease in People with Down Syndrome
Grant Number
R01AG088141
NIH Institute
NIA
Mechanism
R01
Narrative
A tragically large proportion of people with Down syndrome (DS) will exhibit Alzheimer's Disease
(AD) neuropathology by the time they are in their mid-thirties, and most will eventually develop
clinical signs and symptoms of dementia by age 60. Dementia is one of the most important
contributors to mortality and morbidity in adults with DS, and the prevention and treatment of
dementia is a high priority for people with DS and their families. Based on the recommendations
of the reviewers, we now propose a multiple ascending dose, randomized, placebo-controlled
phase 1 trial to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of
nicotinamide mononucleotide a molecule that has been shown in preclinical models of AD to
ameliorate AD neuropathology by targeting multiple mechanisms and an ability to raise NAD+
levels in the brain and engage the target mechanisms.
Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down Syndrome
Grant Number
U01DC019279
NIH Institute
NIDCD
Mechanism
U01
Down syndrome (DS) is one of the most common genetic conditions in the United States with a prevalence rate estimated at 6.7 people with DS per 10,000 of the population in 2010 and is characterized by global developmental delays, intellectual disability, and obstructive sleep apnea (OSA), which can have negative effects on daily life for children with DS. Hypoglossal nerve stimulation (HGS) is a novel therapy for OSA in adults as well as children with preliminary data suggesting improved cognition and language in this population. Therefore, this proposal is a formal clinical trial to focus upon the effects on neurocognition and expressive language before and after hypoglossal nerve stimulation treatment of OSA.