ds-connect®: the down syndrome registry

Conditions: Down Syndrome

Summary: the goal of this study is to develop a registry for down syndrome (ds) to facilitate research participation by individuals with down syndrome. ds-connect® is an online survey tool designed to collect demographic data and health information from individuals with ds. it is open to all people with down syndrome. 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 their diagnosis and health history.

the ds-connect® registry is a unique resource that enables communication and sharing of ideas among the nih, individuals with ds and their families, national and international organizations interested in ds, and a diverse group of professionals involved in scientific research and medical care benefiting the population with ds. by providing information on their demographics, health histories, medications, and other relevant biomedical information, self-advocates and their families provide an unprecedented view of this genetic condition that can inspire new scientific inquiries, clinical research, and clinical trials specifically serving this population. for example, the ds-connect® dataset has led to an increasing appreciation of the prevalence of many co-occurring conditions affecting individuals with ds across the lifespan, thus providing the rationale for the launch of the nih include project (investigation of co-occurring conditions across the lifespan to understand down syndrome). conversely, self-advocates and their families participating in ds-connect® benefit in several ways, including valuable comparison of their health histories with metrics from the entire cohort, access to key resources (e.g., list of active clinical trials), as well as opportunities for participation in human research protocols, including clinical trials testing new interventions to address diverse aspects of this condition. in turn, the ds-connect® dataset informs both nih and the research community on the need to support specific research areas, while also providing an avenue for researchers to promote recruitment into their studies. altogether, ds-connect® provides a multimodal platform for exchange of information and ideas across all key stakeholders, assuring that scientific research in this field is attuned to the needs of the community. a person with ds or a family member or caregiver can register directly through the ds-connect® website at their convenience. they may learn of the registry from many sources including partner advocacy groups, government and healthcare organizations, or other families who are members in the registry. the ds-connect® platform readily captures participant information using condition-specific surveys. all information is provided by the participant or representative for the participant via the web-based registry. there are no in-person visits required for registration.

Eligibility 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.) 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.

Keywords: patient registry down syndrome natural history