Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

DS-Connect {TM}: The Down Syndrome Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
ClinicalTrials.gov Identifier:
NCT01950624
First received: September 21, 2013
Last updated: July 19, 2014
Last verified: July 2014
  Purpose

Objective: The development of a patient registry for Down syndrome (DS) was identified as a priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry to facilitate research participation by individuals with DS. Two advisory boards, composed of advocates, family members, clinicians, researchers, and other relevant parties, have been involved in the development of the registry materials.

Study Population: Individuals with DS (including those with mosaic DS and partial trisomy 21)

Design: DS-Connect (TM) is an online survey tool designed to collect demographic data and health information from individuals with DS.

Outcome measures: The purposes of DS-Connect (TM) are:

  1. To identify the various phenotypic manifestations of DS.
  2. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.

Condition
Down Syndrome

Study Type: Observational
Official Title: DS-Connect [TM]: The Down Syndrome Registry

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history. [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • To determine the prevalence and various phenotypic manifestations of DS. [ Time Frame: 1 year ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Aggregate data from individuals with DS globally. Enable researchers to use de-identified data to analyze the etiology, natural history, and/or treatment effectiveness in DS. Help medical professionals improve treatments for those with DS. [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Study why individuals with DS have different symptoms. Allow individuals with DS and their families to look at their information in DS-Connect and compare it to de-identified information from other participants in the Registry. [ Time Frame: 1 year ] [ Designated as safety issue: No ]

Estimated Enrollment: 100000
Study Start Date: September 2013
Estimated Study Completion Date: August 2018
Estimated Primary Completion Date: August 2018 (Final data collection date for primary outcome measure)
Detailed Description:

Objective: The development of a patient registry for Down syndrome (DS) was identified as a priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry to facilitate research participation by individuals with DS. Two advisory boards, composed of advocates, family members, clinicians, researchers, and other relevant parties, have been involved in the development of the registry materials.

Study Population: Individuals with DS (including those with mosaic DS and partial trisomy 21)

Design: DS-Connect (TM) is an online survey tool designed to collect demographic data and health information from individuals with DS.

Outcome measures: The purposes of DS-Connect (TM) are:

  1. To identify the various phenotypic manifestations of DS.
  2. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA
  • Adults (at least 18 years of age) with a diagnosis of DS (including mosaic DS or partial trisomy 21) who are capable of providing consent to participate, or for whom a legally authorized representative or legal guardian may give permission on behalf of the individual to participate.
  • Children (up to age 18 years of age) with a diagnosis of DS (parents/guardians may enter registry information and give permission to participate on behalf of their child). (Note: Once a child has reached age 18, he or she will be prompted to re-enroll into the registry as an adult, if he/she is able to provide informed consent.)

EXCLUSION CRITERIA

  • A person who does not have a diagnosis of DS (or mosaic DS or partial trisomy 21)
  • Adults who are not capable of providing informed consent to participate and do not have a legally authorized representative or legal guardian.
  • A person with DS who has passed away.
  • No individuals with DS will be excluded from taking part in DS-Connect (TM) based on age, race, ethnicity, or gender.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01950624

Contacts
Contact: Melissa A Parisi, M.D. (301) 496-1383 parisima@mail.nih.gov

Locations
United States, Maryland
National Institute of Child Health and Human Development (NICHD), 9000 Rockville Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Investigators
Principal Investigator: Melissa A Parisi, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

No publications provided

Responsible Party: National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
ClinicalTrials.gov Identifier: NCT01950624     History of Changes
Other Study ID Numbers: 999913201, 13-CH-N201
Study First Received: September 21, 2013
Last Updated: July 19, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Patient Registry
Down Syndrome

Additional relevant MeSH terms:
Down Syndrome
Syndrome
Abnormalities, Multiple
Chromosome Disorders
Congenital Abnormalities
Disease
Genetic Diseases, Inborn
Intellectual Disability
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Pathologic Processes

ClinicalTrials.gov processed this record on November 27, 2014