The MDSC is dedicated to ensuring that all members have information about and access to the latest research opportunities.

In addition to our own Medical & Scientific Advisory Council, MDSC collaborates with a number of organizations that focus heavily on research, including LuMind IDSC, MassGeneral Hospital Down Syndrome Program, Children’s Hospital Down Syndrome Program and the Down Syndrome Center at UMass Memorial Children's Medical Center. 

Current Opportunities for Participation in Research Studies

Infant Screening Project

Caregiver Survey on Sleep Apnea in Down Syndrome

Help LuMind IDSC Foundation gain a better understanding of the impact sleep apnea has on people with Down syndrome and their caregivers!

They are seeking at least 500 parents and caregivers of people with Down syndrome and sleep apnea for 15 minutes to complete this survey on their knowledge of sleep apnea - diagnosis, treatment options, and compliance - to evaluate the impact care management has on families.

All personal identifiable information (PII) in this survey will be de-identified from the survey results. The survey results will be shared broadly at Down syndrome conferences, with key Down syndrome research organizations, online communities, and published in a peer-reviewed journal.

By participating in this survey and providing your email address, you will be entered to win one of three $50 Amazon gift certificates.

https://www.surveymonkey.com/r/SleepApneainDS (English)
https://es.surveymonkey.com/r/LuMindesp (Spanish)

If you have any questions or concerns about this survey please feel free to email the staff at LuMind IDSC at LuMindIDSC@lumindidsc.org or Cincinnati Children's Hospital ORCRA@cchmc.org

Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR)

Do you have a loved one with Down syndrome who is over the age of 25? Or are you a person with Down syndrome over the age of 25? Recruitment is now open at Massachusetts General Hospital in Boston, MA for the Longitudinal Investigation For the Enhancement of Down Syndrome Research (LIFE-DSR) study – the first study run in the Down Syndrome Clinical Trial Network (DS-CTN). The study is expected to complete in 2021.

The LIFE-DSR study is an observational investigation with the goal to better understand the cognitive and behavioral changes along with the health issues found in adults with Down syndrome as they progress toward Alzheimer’s disease.

The study is recruiting adults 25 years of age or older and each participant will undergo a baseline evaluation followed by a 1-year then a 2-year follow-up visit. Each participant will undergo a routine health exam including blood collection and will take cognitive and behavioral evaluations at each visit.

To learn more, visit http://www.ds-ctn.org/LiFE-DSR.html

Developing a Peer Mentoring Intervention for Young Adults with Intellectual/Developmental Disabilities and Co-Occurring Mental Health Conditions

Are you a young adult ages 16-23 with a developmental or intellectual disability? Do you have a mental health condition?

Join a peer mentoring program to learn how to deal with mental health challenges. Sometimes people have a hard time with their mental health. They might feel sad, anxious, or angry. A peer mentor can help you!

What is peer mentoring?
A peer mentor is someone who also has a disability and a mental health condition.
A peer mentor helps you learn new things.
Peer mentors do activities with you to help your mental health.
Peer mentors can be fun and easy to talk to.

What will happen?
You will meet with your peer mentor every week for 8-12 weeks.
You will receive a $100 “thank you” gift card for doing all of the peer mentoring activities.

Who can be in the peer mentoring study?
Young adults ages 16-23 who have an intellectual/developmental disability and co-occurring mental health condition. This includes people receive treatment for mental health-related symptoms (e.g., anxiety, feelings of sadness)
Live within the MBTA service area, including buses and trains.

Ariel Schwartz at Boston University is in charge of this study. For more information or to sign up for a peer mentor in Fall 2019, contact her at: aeschwar@bu.edu or 617-353-7492.

JASPER-DS Behavioral Intervention Research Study for Children with Down Syndrome

Can behavioral therapy help children with Down syndrome learn? Help researchers at Boston Children's Hospital Down Syndrome Program find out!

WHAT: They are looking at the effectiveness of a behavioral therapy called JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation) in children with Down syndrome.

WHO IS ELIGIBLE: This opportunity is for children with Down syndrome (Trisomy 21) who are 3 years old.

JASPER will consist of 12 weekly visits for behavioral therapy sessions and weekly video or phone calls. EEG measurements, behavioral testing, and parent surveys will also be done at baseline, 3 months, and a 6 months follow-up.

For more information, email or call the Down Syndrome Program research coordinators at 617-919-6435 or downsyndrome.research@childrens.harvard.edu

To learn more about JASPER: http://www.kasarilab.org/treatments/jasper/

Parent Attitudes Toward Enhancing Cognition and Clinical Research Trials in Down Syndrome

Membersof the Down syndrome community have a wide range of opinions about scientific efforts to enhance cognition and clinical drug trials for individuals with Down syndrome.

Share how YOU feel about these topics by participating in a study conducted by researchers at Boston Children’s Hospital!

Participation includes:
- Completing an online survey (10-15 minutes)
- The option to participate in a one-time parent focus group that elaborates on topics from the online survey
(Note: Alternatively, parents can sign up for a phone interview if they are unable to attend a focus group)
Interested? To take the survey, please click on the link below or copy and paste the link into your browser: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=YNEREPPTNX
Questions? Contact Maggie at DownSyndromeResearch@childrens.harvard.edu



Prenatal Experiences During Pregnancy

Researchers from Hunter College & University of North Carolina, Charlotte are looking to understand families’ experiences during pregnancy when they have a diagnosis that made them eligible for early intervention for infants and toddlers with or at risk for developmental delays or disabilities. They want to understand how early intervention programs might help families during pregnancy.

What Will They Do?
You will be asked a series of questions during a 45-60 minute interview. They will ask you about:
• What helped you during your pregnancy
• What else you might have wanted
• How you think early intervention could help

Who Can Participate?
Families who:
1. Are 18 years of age or older
2. Have a child 8 years old or younger
3. Were eligible for the Early Intervention program based on that child’s diagnosis
4. Knew that diagnosis during pregnancy

How Can I Participate?
Contact one of the following researchers leading the project:

Dr. Bonnie Keilty, Hunter College
Email: bkeilty@hunter.cuny.edu
Phone: 212-772-4709

Dr. JaneDiane Smith, University of North Carolina, Charlotte
Email: jdianesm@uncc.edu
Phone: 704-687-8850



Accounting for the Experiences of People with Down Syndrome in Clinical Settings

Anne Kohler, a graduate student at the University of Connecticut, is doing research on healthcare and Down syndrome. She is looking for research participants who are willing to share their experiences with health, healthcare, and life with Down syndrome. If you are open to taking part in this research, you will be asked to do some or all of the following:

1. Allow Anne to observe an upcoming medical appointment that you have
2. Take part in follow-up interviews in your home or place of your choice to share you experiences of Down syndrome and healthcare
3. Allow Anne to observe your time at MDSC workshops or other MDSC events

You might also be asked to participate in a third stage of the project, which involves the individual with Down syndrome taking photos of their daily lives. Like all other stages, this is optional.

This research is voluntary and uncompensated.

If you would be willing to take part in this research on these topics, or are curious to learn more about this process and goals of the research, you can contact her at anne.kohler@uconn.edu.



Knowledge Translation Intervention Study

Are you a parent of a student with an intellectual and/or developmental disabilities between the ages of 14-24?
Are you having a difficult time imagining your child’s future? Do you have trouble understanding disability service agencies and how they work?

Please join the Institute for Community Inclusion for a research study on how to family knowledge, attitudes, and expectations around employment.
The purpose of this study is to test the impact of an individualized motivational communication strategy on planning for employment in the community, using Facebook messenger.

They are also exploring how individuals with I/DD and family members use information and supports to develop an employment vision, and move from that vision to an employment outcome.

You will also be able to join a Facebook community of parents to engage with about creating a future plan for your child, and be able to discuss navigating the disability service system with others.

All participants will be entered into a drawing to win a $100 Amazon gift card in appreciation of their time and effort in participating in this study.

To register, please fill out this form here: http://www.surveygizmo.com/s3/3255235/c8563ba0d6d0

To get more information, please contact John at john.shepard@umb.edu or 617- 777-0622.

National Child Feeding Study with the School of Food Science at Washington State University
What is involved in this study?
We are conducting a feeding study on children 1-4 years old including children with a diagnosis of Down syndrome or an Autism Spectrum Disorder. Participation in the study will involve recording video of your child eating different food products at home.

How long will this study last?
This study will be conducted over the course of several months during 2017. Individual participation will take 1 week to complete and will involve video recording child-feeding sessions at home for 6 days in-a-row.

What will I get for participating in this study?
For filling out our questionnaire regarding the eating habits of your child, you will be entered in a drawing for the chance to win a $500 gift card. If you and your child are selected to participate in the study, and complete all child-feeding sessions, you will receive a $125 gift card.

Please contact Ben Bernhard at charles.bernhard@wsu.edu if you're interested!


Music Research with Harvard University
You're invited to participate in music research for people with Down syndrome at Harvard University!

We’re studying how people with genetic conditions respond to and participate in musical activities, and how parents interact musically with their children. In the study, we’ll play your child a series of recorded songs and poems while recording his/her physiological activity. We’ll also ask you to complete surveys to tell us about your experiences as a parent and about your child’s interests in music and other arts activities.

We are conveniently located on the main Harvard campus. The study lasts about an hour, and as a thank-you for your participation, we’ll provide your child with a cool toy and we’ll give you $45 in gift cards. We also provide free parking for the duration of the study.

If you and your child would like to participate, please send an email to musicstudy@g.harvard.edu with the subject line “I want to participate in the Down syndrome study!” We’ll then be in touch to help find a convenient time for you to visit the lab. We hope to hear from you soon.


Children's Mealtime Study Looking for Children Ages 3 - 8

The Children’s Mealtime Study, located at the E.K. Shriver Center/UMass Medical School, is looking for children with Down syndrome, Fragile X, and/or other intellectual disabilities ages 3-8 to participate in a research study on children’s eating patterns, mealtime behaviors, and parent feeding practices.

Study visits can be scheduled during the day or early evening on weekdays, weekends, and on some holidays. There are many convenient locations, including your home, where study visits can take place. You will be compensated for your time.

For more information visit http://shriver.umassmed.edu/research/health-promotion/childrens-mealtime-study?, or contact Rosalie: Phone: 774-455-6521 or Email:Mealtimes@umassmed.edu.

How Children with Down Syndrome Use Communication Technology

Kelsey Prena, a graduate student at Indiana University, is researching how children with Down syndrome use communication technology, with hopes that better educational software will be available for your children. Children with Down syndrome love playing video games on iPhones, iPads, computers, etc., and their passion might present an opportunity to improve education for children with Down syndrome. As a member of Massachusetts Down Syndrome Congress, you may partake in a 30 minute survey about your child’s video game use. You may participate even if your child does not play video games because the answers will be informative and contribute to a better understanding of video game play. Take the survey here. 

Health U - Weight Loss Study for Teens with Intellectual Disability

Health U. is a weight loss study for overweight teens and young adults ages 14-22 who have an intellectual disability. Eligible participants will take part in a program that includes weekly to biweekly group and individual sessions focusing on losing weight through healthy eating and increasing physical activity in ways that are fun and achievable. Parents receive training on supportive behavioral techniques to encourage their son/daughter to meet nutrition and physical activity goals.

Sessions are 90 minutes, highly interactive, and led by nutritionists and lifestyle coaches.

CLASSES WILL BE HELD ON TUESDAYS IN DANVERS FROM 7:00-8:30pm.

Health U. is a free and voluntary research study funded by the National Institute of Health (NIH) through the Shriver Center in Boston and at UMass Medical School. Qualified participants may be eligible for compensation.

For more information, please call 774-455-6540 or email healthu@umassmed.edu. To learn more, Click here for a brochure.

Project Play

Project Play seeks to evaluate all children’s play as a developmental process across the age span of
8 months to turning 5 years old.  They are especially interested in evaluating the play of children with identified delays.

Karin Lifter, Ph.D. and her research team from the Department of Applied Psychology at Northeastern University are currently looking for families who live in the Boston metropolitan area and who have a child who is developing with a delay. Their goal is to develop a user-friendly instrument that teachers and providers can use to evaluate a child’s progress in play, and particularly for children with delays and disabilities. The ultimate goal of their instrument is to be able to evaluate children’s play for the purposes of designing interventions for them.

Click here for a flyer with more information. You can contact the Project Play team by calling (617) 373-3297 or emailing projectplay@neu.edu, or visit the Project Play website.

Clinical Study of Tongue Pace Maker System (The Hypoglossal Nerve Stimulator) in children ages 12 to 21 with Down Syndrome and Severe Obstructive Sleep Apnea

This research is being conducted at Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary by Drs. Hartnick, Diercks, Keamy, Kinane, Schwartz, and Skotko. These healthcare providers are interested in providing not only the best care for patients with Down syndrome but also in promoting research to understand and find better ways to treat their medical conditions.

The team is studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent sleep disordered breathing despite prior tonsillectomy. They will be investigating whether placement of a surgically implanted nerve stimulator, similar to a pacemaker, is safe and effective in relieving airway obstruction during sleep. This therapy has already been tested and approved for use in adults meeting specific criteria. The purpose of this notice is to inform you about the study. Participation is voluntary. Whether or not you decide to participate will have no effect on your relationship with Massachusetts Eye and Ear Infirmary and/or Massachusetts General Hospital as a patient. If you are interested in learning more about this study, and whether or not you/your child would be an appropriate candidate, please contact the research team by calling Dr. Hartnick at (617) 573-4206 or by email at Christopher_Hartnick@meei.harvard.edu.

Project TEAM Study Looking for Teens and Young Adults Ages 14 - 21 with Developmental Disabilities

Project Team (Teens making Environment and Activity Modifications) is looking for teens and young adults ages 14- 21 with developmental or intellectual disabilities.

Young people and their parents will complete questionnaires and assessments about the physical and social environment, the activities they do, and how they feel about themselves.

Questionnaires will be completed three times over four months. After the first meeting, each participant will receive a $50 gift certificate to try a new activity, like going to the movies or a restaurant. Participants will also receive gift certificates when they and their parents complete the questionnaires: $25 after the second session and $30 after the third session.

Jessica Kramer is in charge of the study at Boston University and can be contacted at kramerbulab@gmail.com, 617- 353-7522, or 617-353- 2702.

Click here for a flyer with more information.

MRI with Children and Adolescents diagnosed with Fragile X or Down Syndrome

The Child and Adolescent Neurodevelopment Initiative (CANDI) at the University of Massachusetts Medical School is conducting a research study focused on Magnetic Resonance Imaging (MRI) with children diagnosed with Fragile X or Down Syndrome.

This study is sponsored by the University of Massachusetts Center for Clinical and Translational Science. The purpose of the study is to determine if there are ways to help children undergo MRI without needing to be sedated, and to learn more about the features of the brains of children and adolescents aged 7-17 with Fragile X or Down syndrome.

Participants in this study must be between 7 and 17 years of age, have a diagnosis of Fragile X syndrome or Down syndrome, and have a parent willing to assist with desensitization activities at home.

For more information, click here or contact ChildResearch@umassmed.edu.

Evaluating the “Family-Centered” Approach of Pediatric Multidisciplinary Down Syndrome Clinics: A Parent’s Perspective

Devon Haynes, a graduate student in the genetic counseling program at the University of South Carolina School of Medicine, is conducting a research study to ascertain the level of psychosocial support offered to families of pediatric patients with Down syndrome by their health care providers.  This research study looks at parent’s perspectives on the support given to their family through their child’s pediatric health care.  The study involves taking a survey that is online and is meant to be filled out individually by either parent.

The survey contains a series of questions about your child with Down syndrome (under age 21) and the types of medical providers he/she sees on a regular basis.  The survey also asks about opinions and perspectives on the level of psychosocial/emotional support that is offered by your child’s pediatric health care providers.

All responses from the surveys will be kept anonymous and confidential.  The goal of the study is to collect information which will allow health care providers to provide more "family-centered" and psychosocial care to families affected by Down syndrome and other genetic conditions.

Click here for more information, or contact Devon directly at devon.haynes@uscmed.sc.edu.

To take the survey, go to https://www.surveymonkey.com/s/psdsparentperspective.

Prenatal MRI Study of Fetuses with Down Syndrome

The Mother Infant Research Institute at Tufts Medical Center is conducting a fetal brain imaging study to help understand more about brain development in fetuses with Down syndrome in ongoing pregnancies.

This study uses a safe, non-invasive MRI scan to look at the fetal brain. MRI studies make high-resolution pictures of the fetal brain.

To be eligible to participate in the study, you must have received a prenatal diagnosis of Down syndrome or have had a fetal DNA test result that is strongly suspiciaous of Down syndrome.  Click here for a flier or contact Dr. Tomo Tarui at babybrain@tuftsmedicalcenter.org or 617-636-5729 for more information.

Clinical Trial to Evaluate the Safety of a Study Drug and the Way It Works in the Body with the Possibility of Improved Cognitive Capacities in People with Down Syndrome

Dr. Brian Skotko and his research team from the MassGeneral Hospital Down Syndrome Program are starting another study drug trial.  In this clinical trial, an investigational medicine, not yet approved for sale by the FDA, will be studied in people with Down syndrome who meet eligibility criteria.  This study drug is hoped to improve the cognitive capacities in some people with Down syndrome.

Up until now, opportunities for people with Down syndrome to participate in research have been scant, for a variety of reasons.  For the first time, study drug trials are now available to people with Down syndrome.  Enhancing the well-being of all people with Down syndrome remains the greatest aim of all of the research opportunities that we offer through the Mass General Hospital Down Syndrome Program.

There are a limited number of spots for this clinical trial, and eligible patients are screened in the order in which they contact us. 

This study is being funded by Elan, the developer of the drug in the upcoming study. The upcoming clinical trial will evaluate the safety of the study drug and how it works in the body.  The study will take place over 10 weeks and will include 5 clinic visits.

To see if your family member is eligible to take part in the study, please review the questions here: www.massgeneral.org/downsyndromeresearch. 

If you would like your family member to participate in this study, or if you have further questions, please contact Mary Ellen McDonough, RN, Senior Clinical research Coordinator in the MassGeneral Hospital Down Syndrome program at, 617-643-5571 or mmcdonough13@partners.org.