For the purpose of registering in DS-Connect®: The Down Syndrome Registry, “the person with DS” will refer to the person who has Down syndrome (DS). “You” will refer to the person entering the information. This may be the person with DS or a family member or guardian of the person with DS (the person legally responsible for the care of the person with DS).
A registry is a place to store detailed information about a person with a specific condition. In this case, DS-Connect® is for people with DS. We hope that DS-Connect® will answer two important needs. First, doctors taking care of people with DS and scientists studying DS need first-hand information to understand how DS affects people. Second, they need to find new educational, behavioral, and drug treatments and study whether they are effective in people with DS. This Registry will help to find those people who might be eligible to take part in these studies. All studies will be reviewed by the DS-Connect® Registry Coordinators before contacting any Registry participants who may qualify. Scientists will not be able to contact families directly.
A research study is a scientific project designed to learn more about a specific topic. Many research studies collect information about health, medical care, or treatments for people. One type of research study is a clinical trial, which tests whether a treatment such as a drug or an educational program improves the participants’ health and is safe. Clinical trials can also look at other aspects of care, such as improving the quality of life for people with certain conditions.
There are several ways DS-Connect® can help people with DS and their families and caregivers. The Registry can connect its members with information about the larger DS community, including DS family organizations. DS-Connect® can provide information about DS to people with DS and their family members. It can also provide yearly updates about the medical care that is recommended at the current age of the person with DS. DS-Connect® can give people with DS and their family members information about new findings and treatments for DS. It can provide a list of doctors and other healthcare providers in their local community. In addition, DS-Connect® can let people with DS (or their family members) know when they may be eligible for new research studies. Any DS-Connect® participant can look at the grouped results to learn how often a response is given by other members of the Registry. Finally, DS-Connect® can be a useful way to store medical information about the person with DS, including growth charts and summary reports that can be shared with doctors.
By collecting information about people with DS, the Registry may be a catalyst for research that benefits people with DS. A registry can:
- Help connect people with DS who may be interested in participating in research to scientists who study DS.
- Speed up research in DS by collecting information that scientists can use.
- Help scientists learn why people with DS have different symptoms.
- Help healthcare providers improve how they treat people with DS.
- Advance our understanding about how and why certain treatments work or don’t work by quickly publicizing the results of studies on DS.
- Help scientists develop and test new treatments for people with DS
- Encourage new scientists to conduct research on DS
The National Institutes of Health (NIH) provided the start-up costs for DS-Connect®, with the input and support of the Down Syndrome Consortium. The NIH supports scientists who study DS to develop new treatments for those with DS. The Down Syndrome Consortium is a partnership of families, advocacy groups who support people with DS, DS researchers and healthcare professionals, self-advocates, and NIH. For a list of Down syndrome Consortium members, see http://downsyndrome.nih.gov/Pages/default.aspx. NIH is currently exploring ways of sustaining DS-Connect® over the long term.
There are two Boards that provide input into the management of DS-Connect®. The DS-Connect® Operations Board works with NIH and the Registry Coordinators on the day-to-day activities of the Registry, develops surveys, and provides input into decisions about access to Registry information. The DS-Connect® Governance Board provides input into decisions about policies and procedures that govern DS-Connect®. The Registry Team manages the content and sends out notices and other information to the participants. The Registry Team also reports back to the Down Syndrome Consortium with updates about the Registry and coordinates outreach with members of the Consortium. For more information about the operation, governance boards and the registry team, go to the “Who We Are” at DS-Connect®.
DS-Connect® is for people living with a diagnosis of DS, including people with mosaic DS and partial trisomy 21. All of the health data collected by DS-Connect® are related to the health issues of people with DS.
There are five easy steps to join DS-Connect®. This whole process should take you less than 20 minutes.
- Go to https://DSConnect.nih.gov
- Click the “Join the registry” link on the homepage.
- Set up an account by entering a user name and a password. This will be used each time you want to log in to your profile.
- Complete the online consent/assent form.
- Fill out the information about the person with DS, including the Initial Health Questionnaire and other surveys.
After setting up the account, be sure to update your answers at least yearly (you will receive a reminder from us).
- For children younger than 18 years old, a parent, family member or caregiver can sign the consent.
- For children 7 years and older, a verbal assent is requested before signing the consent form. (The person with DS is asked if they want to be part of the Registry. If they say yes, the adult signs both the consent and the assent.)
- When the person with DS becomes 18 years old, they will need to provide assent or consent to continue to be in the Registry. Adults with DS 18 years or older who understand the consent form (and do not have a legal guardian) can sign for themselves.
- The legal guardian, parent, or authorized representative of the person with DS must sign the consent form for adults with DS 18 years or older who cannot sign it themselves.
Yes, we hope so! DS-Connect® is most valuable for you and for scientific research when it is kept up-to-date. So we will ask you to update your information at least once a year by sending out annual notices to remind you. You can also update your information whenever there is a change in any condition, change in medication, or any new symptom. We may also ask you to send a copy of your test results (such as genetic or diagnostic test results) or other medical reports, if available.
The risks of taking part in DS-Connect® are very low. If you are not comfortable answering or do not want to answer a question in the Registry, you do not have to answer. Loss of private or confidential information is also a risk, but that risk is very low. To keep this risk low, we will store your information in a secure computer database. This database uses a security system with many safeguards and protections (see next question). In the unlikely situation where there is a loss of security, we will let you know right away.
NIH is supporting maintenance of the data gathered through DS-Connect® and the security of the environment to protect participants’ personal information. DS-Connect® is a FISMA-compliant system. FISMA is the Federal Information Security Management Act, which sets out a comprehensive set of rules and procedures to follow to protect information and operations from threats. To be “FISMA-compliant,” best practices for strict data security and privacy must be followed, based on the National Institute of Standards and Technology (NIST) security standards. As a FISMA-compliant information system, DS-Connect® collects required security documentation and undergoes a thorough review process which includes yearly testing of many of the security controls. These controls are reviewed independently by an expert third-party assessor. FISMA also requires continuous monitoring of the system to look for any vulnerabilities so that we can quickly identify potential security threats and respond. Procedures also have been established for detecting, reporting, and responding to any incidents. To ensure that all of these protections are kept intact, we feel that it is best for DS-Connect® to continue to be housed centrally by NIH and its contractor, rather than dispersed across local sites.
The aim of DS-Connect® is to share medical and other information with scientists, while still protecting your privacy. We will not share your name, address and other personal, “identifying” information with scientists or anyone else.
Information that has all personal identification removed is called “de-identified” or “de-coded” data. The registry will only share this de-identified data with approved scientists, clinicians, and drug companies. Once people with DS and their families provide their consent and create their Registry account, they can look at their information in DS-Connect® and compare it to de-identified information from other people in the Registry. Some of the de-identified information collected from the Registry may be shared with other registries and databases with your permission. Each DS-Connect® participant will have a “Global Unique Identifier (GUID)” – a number created for each individual that does not have personal information attached to it. This can be used to link to other databases, registries and biobanks with your permission, without revealing personal information. The Registry is a knowledge base about DS and other conditions that we hope will lead to new research studies and new treatments.
DS-Connect® follows all state and Federal rules to protect private information about you and the person with DS. Only the DS-Connect® Registry Coordinators will be able to see your information. A very small number of people serve as the Registry Coordinators. From NIH, Drs. Melissa Parisi and Sujata Bardhan, and Ms. Lisa Kaeser, and from PatientCrossroads (the contractor that created the DS-Connect® website and manages data curation and safety monitoring), Ms. Debbie Jae, Mr. Jud Rhode, and Mr. Albert Carrasco. Both NIH staff and Patient Crossroads staff must complete training courses and receive certification in Human Subjects Protection and Information Privacy. NIH also requires a Reliance Agreement to be in place with Patient Crossroads regarding Institutional Review Board (ethical) approval for the questions asked in DS-Connect®.
De-identified data is very useful for creating composite graphs and charts that anyone with a DS-Connect® account may see. Many of these charts and graphs are already on the DS-Connect® website. We believe that the de-identified data presented in this way belongs to the DS community without creating concerns about individuals’ privacy.
DS-Connect® is a registry where families and individuals control their data. We hope that the person who is the account holder is answering the questions to the best of their ability, because researchers will look at the data to help them design their studies around important health questions for people with DS.
No. Researchers interested in recruiting participants with DS for research studies will only be able to contact the DS-Connect® Registry Coordinators, who will scan DS-Connect® participants and identify who might be eligible for a particular study, and contact those participants or their families. When you answer the DS-Connect® questions, you can decide whether to check the box saying that you are willing to be contacted about possible participation in a research study. You can also change your answer to this question at any time.
No. NIH has set up a special committee called the Research Review Committee to review proposals to use the Registry to recruit for research studies. The Research Review Committee is made up of experts from the DS-Connect® Operations Board, the Down Syndrome Consortium, and family members. It reviews requests from researchers who want to either see more detailed information about the de-identified data than is available on the website, or who want the Registry Coordinators’ help in contacting individuals with DS who may be eligible for their proposed studies. Each study will need prior ethical approval from the Institutional Review Board (IRB) at the researcher’s home academic institution, university, or company. The Research Review Committee will decide whether the researcher can proceed with the request that the Registry Coordinators contact families.
One of the main goals of DS-Connect® is to make it easier for a person with DS to take part in research. If a researcher’s proposed study has been approved by an Institutional Review Board and meets all of the criteria for data access by DS-Connect®’s Research Review Committee, that researcher can contact the Registry Coordinators. Interested and willing participants will be notified about the study and the participant (or their family) can decide whether they would like to contact the researcher or not. If we inform you about a new research study, this does not mean that you have to sign up for it. In order to take part in any research study, you or the person with DS will need to fill out a separate informed consent form. You should read and review any risks or benefits associated with participating in that research study before making a decision.
There is no guarantee that you or the person with DS will qualify for a research study. Even if the person is a good match for a research study based on the information in DS-Connect®, that person will still need to go through another level of screening for that specific research study or clinical trial. It is possible that the person might not meet all the needs for that specific study after all.
Definitely, yes. We hope that you will still be willing to register, even if you don’t want to take part in a study. Your information will still be useful to doctors and researchers who are trying to learn more about people with DS.