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DS-Connect {TM}: The Down Syndrome Registry

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ClinicalTrials.gov Identifier: NCT01950624
Recruitment Status : Recruiting
First Posted : September 25, 2013
Last Update Posted : August 9, 2019
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) )

Brief Summary:

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 or disease
Down Syndrome

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.

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Study Type : Observational
Estimated Enrollment : 100000 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: DS-Connect [TM]: The Down Syndrome Registry
Actual Study Start Date : September 6, 2013
Estimated Primary Completion Date : May 26, 2024
Estimated Study Completion Date : May 26, 2024

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome

Group/Cohort
Down syndrome cohort
Individuals who have a diagnosis of complete trisomy 21, translocation down syndrome and Mosaic Down syndrome



Primary Outcome Measures :
  1. To determine the prevalence and various phenotypic manifestations of DS. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about theirdiagnosis and health history.@... [ Time Frame: On going ]
    The purposes of DS-Connect 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 theirdiagnosis and health history.


Secondary Outcome Measures :
  1. 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 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with DS (including those with mosaic DS and partial trisomy 21)
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 (LAR) may give permission on behalf of the individual to participate. Adults with DS who cannot consent for themselves but can provide assent would need to provide assent to their LAR.
  • 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; if the child is over 7 years of age and able to provide assent, they must do so. (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 or with the consent of his/her LAR if unable to re-enroll themselves.)
  • Children with DS (between the ages of 7 and 18 years) will be asked to provide their assent to register.

No individuals with DS will be excluded from taking part in DS-Connect based on age, race, ethnicity, or gender.

EXCLUSION CRITERIA:

  • A person who does not have a diagnosis of DS (or mosaic DS or partial trisomy 21)
  • Adults with DS who are not capable of providing informed consent or assent to participate and do not have a Legally Authorized Representative who can do so. In the case where an adults with DS is able to provide assent but does not do so, that adult will be excluded.
  • A participant, parent, and/or LAR who cannot provide consent or does not read or understand a language that is available for the registry, either English or Spanish.
  • A child with DS (between the ages of 7 and 18 years) who is capable of providing assent but does not do so.
  • A child under the age of 18 years whose parents share joint custody and one parent indicates that they do not consent to the child s participation.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01950624


Contacts
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Contact: Melissa A Parisi, M.D. (301) 827-1448 parisima@mail.nih.gov

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

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Responsible Party: 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
First Posted: September 25, 2013    Key Record Dates
Last Update Posted: August 9, 2019
Last Verified: August 6, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Patient Registry
Down Syndrome
Additional relevant MeSH terms:
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Down Syndrome
Syndrome
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn