Down Syndrome Research Program
Email: researchdownsyndrome@mgh.harvard.edu
Call: 617-726-7927
Overview
We are a research team composed of enthusiastic healthcare providers committed to innovation in Down syndrome research. Our team is motivated to offer research opportunities that can help maximize the life potential for all people with Down syndrome. Working collaboratively with researchers around the globe, we are dedicated to advancing our shared understanding of biological processes associated with Down syndrome. To this extent, we are proud to offer families a portfolio of research opportunities.
Mission Statement
We are a collaborative, multidisciplinary team, serving people with Down syndrome of all ages and their families. We provide evidence-based clinical care, education, and cutting-edge research so that individuals with Down syndrome can reach their full potential.
Vision Statement
Our passion is to provide healthcare, research, and education that contribute to a world in which all people with Down syndrome are accepted, celebrated and have the opportunity to fully realize their potential.
Research Projects
Current Research Projects
Brain Health and Down Syndrome: Nearly all adults with Down syndrome develop Alzheimer’s-related dementia starting in their late 30s. There are currently no pharmaceutical options that have been proven to prevent, treat, or slow the progression of dementia in this population.
This phase 1 clinical trial will evaluate the safety and tolerability of a study drug, nicotinamide mononucleotide (NMN), given at different doses in adults with Down syndrome. Some participants will receive the study drug and others will receive the placebo (a pill that looks the same but does not contain the drug).
Who can join?
- Adults 18+ with Down syndrome
- Have a caregiver with 10+ hours of weekly contact
- Able to give consent (or have a legal representative)
What does participation involve?
- NMN or placebo tablets daily for 28 days
- About 12 weeks total (screening, study period, follow-up)
- Health checks, blood and urine tests
- A specialized brain MRI
- Simple physical function tests
Compensation & location
Participants can receive up to $1,100 for participating in the study, plus parking and meal vouchers. Recruitment is through the Down Syndrome Program at Massachusetts General Hospital, with visits at Brigham and Women’s Hospital.
Learn more at: researchdownsyndrome@MGH.HARVARD.EDU
Down Syndrome Patient Database: All current patients in the Down Syndrome Program at Massachusetts General Hospital are invited to participate in a research project to build an international national registry to track the health and medical history of people with Down syndrome across their lives. Health information will be collected from existing and future medical records, so there are no extra study visits or procedures. This Down Syndrome Patient Registry is taking place at Massachusetts General Hospital, as well as other centers around the United States and the world that specialize in Down syndrome clinical care and research. Here are research publications that have resulted from this project: https://www.ncbni.nlm.nih.gov/sites/myncbi/amy.torres.1/collections/66903370/public/
Completed Research Projects
Developing a Down Syndrome Health Instrument: Primary caregivers are asked to participate in a survey about the health of individuals with Down syndrome.
Longitudinal Investigation for the Enrichment of Down Syndrome Research (LIFE-DSR): The LIFE-DSR study was a multi-year natural history study conducted in collaboration with LuMind IDSC (now NDSS) to better understand the progression of Alzheimer’s disease in individuals with Down syndrome. Through repeated assessments of behavioral, cognitive, and health changes over 2–3 years, as well as blood sample collection, the study aimed to generate foundational data to support the development of reliable clinical and biological tools for detecting and measuring Alzheimer’s-related changes in people with Down syndrome.
Social Networks of People with Down syndrome: This study examined the social networks of adults with Down syndrome aged 25 and older by collecting information directly from participants and their caregivers through structured interviews and questionnaires. By assessing relationships with family and friends at baseline and again one year later, the project aimed to better understand patterns of social connection and engagement over time, providing insight into social participation and support systems for adults with Down syndrome.
Engaging underserved families in the United States with Down Syndrome Clinic to You (DSC2U): This project sought to identify barriers to care and develop sustainable, culturally appropriate strategies for engaging Spanish-speaking and African American families in Down syndrome health and wellness initiatives. Using focus groups, primary care provider interviews, and an online survey, the study aimed to better understand community needs and perspectives in order to help bridge gaps in access to specialty care and health information for underserved Down syndrome populations.
Phase 1 and Phase 1b/2 Trials: These randomized, placebo-controlled, double-blinded clinical trials evaluated the safety, feasibility, and efficacy of an investigational vaccine targeting Alzheimer's-related brain changes in individuals with Down syndrome. The recruitment for this study has closed.
Physical Activity Assessment in Adults with Down Syndrome: This study used accelerometers to objectively measure physical activity levels in adults with Down syndrome, addressing limitations of self- or caregiver-reported activity data. The findings helped clinicians provide individualized counseling on healthy lifestyles and weight management while also contributing to a broader understanding of physical activity patterns in a high-risk population with elevated rates of overweight and obesity.
Predicting Obstructive Sleep Apnea in People with Down Syndrome: This research project aimed to improve screening methods for obstructive sleep apnea (OSA) in individuals with Down syndrome, a condition associated with significant cognitive, cardiac, and pulmonary complications. By exploring alternatives to traditional overnight sleep studies, which can be burdensome and costly, the study sought to support earlier identification and management of OSA in this medically vulnerable population.
Nutrition and Weight Management in People with Down Syndrome: Using data from patients seen in the Massachusetts General Hospital Down Syndrome Program, this project examined patterns of nutrition, overweight, and obesity across children and adults with Down syndrome. The study analyzed BMI trends over time and incorporated patient-reported surveys on nutrition challenges and mobile technology use, contributing quantitative data to inform future interventions focused on healthy weight management.
ELND005 Drug Trial for People with Down Syndrome Is a Success: Massachusetts General Hospital was one of three U.S. sites participating in a successful Phase 2 clinical trial of ELND005, a drug studied in adults with Down syndrome. Although results supported the promise of the treatment, the sponsoring company ultimately chose not to pursue a Phase 3 trial discontinuing further development.
Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down Syndrome: We are studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent obstructive sleep apnea despite prior tonsillectomy. We will be researching how placement of an investigational surgically implanted nerve stimulator for the purpose of treating severe obstructive sleep apnea (OSA) improves the neurocognition and expressive language skills in children with Down syndrome, ages 10-21. Recruitment for this study has closed.