Sickle CellNCT01633021
Developing the Family Map: Looking at Communal Coping
An observational study of Sickle Cell and Diabetes, run by National Human Genome Research Institute (NHGRI) at 3 sites in United States.
Trial summary
Background: Knowing one s family medical history is a part of staying healthy. Some health risks run in families, and knowing these risks can promote more healthy behavior. Different social and cultural factors may affect how family members share this information. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Sickle Cell, Diabetes, Cancer
- How many people
- 1,061 participants
- Where
- 3 sitesUnited States
- Study dates
- 5 Jul 2012to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Recruitment is appropriate to the disease/screening-specific context, and may work with advocacy groups. Prospective participants who have / are at risk for chronic genetic disease (or are related to someone affected by condition) may be eligible to participate.@@@
Who may be able to join
- Aged 18 years or older
- Ability to complete in-person, web-based or telephone survey/interview(s)
- Ability to read English or Spanish (in some cases)
- Affected by or have at least one first- or second-degree relative affected by or have a spouse/partner affected by the disease(s) of interest OR Biological or non-biological (e.g. adopted, step, spouse, family through marriage) relative of the primary participant.
Who cannot join
- Individuals with cognitive difficulties will be excluded from the study, as participants will be required to comprehend and legally consent to participation in this study and complete the survey/interview(s).
Trial locations and contacts
3 sites in 1 country.
United States3 sites
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229-3039
Geisinger Autism & Developmental Medicine Institute
Lewisburg, Pennsylvania, 17837
About this study
Official title: Development of the Family Map: Examination of Communal Coping Across Disease Context
Background:
- Knowing one s family medical history is a part of staying healthy. Some health risks run in families, and knowing these risks can promote more healthy behavior. Different social and cultural factors may affect how family members share this information. Genetic risk information that is shared in one family may not be shared in the same way in another. This information may also be shared differently between spouses, siblings, or parents and children. It may even be shared with more distant relatives. Knowing the information that family members share and how they share it may help researchers improve genetic disease treatment and support plans. Family surveys of people who have genetic health risks may help provide this information.
Read more
Objectives:
- To study how family members affected by genetic-related diseases share health information with each other.
Eligibility:
- Individuals at least 18 years of age who can read English or Spanish.
- Participants affected by a genetic disease or be related or married to someone who has the disease.
Design:
- Participants will be screened with an initial questionnaire. They will identify their genetic disease and provide a basic health history.
- Participants who have the disease will complete an online survey or participate in a personal interview. The questions will take about 45 minutes to 1 hour to answer. The survey will ask about family health history and family support. Participants will also provide referrals to a spouse or relatives who will participate in the study.
- The spouse or relative will answer a similar survey. The survey will ask about health history and support for the spouse/relative with the disease.
- A gift card will be given as thanks for participating in the study.
Read the detailed description
Facilitating the dissemination of disease risk information and promoting engagement in healthful behaviors within families may be enhanced by using network-based interventions. Network-based interventions are innovative in that they are tailored to the structure of the social system within which individuals are embedded. Understanding the social and relational factors associated with processes of family risk dissemination, family encouragement, and support is essential to developing network-based intervention tools targeting the family. The first objective of the current project is to ascertain those key social pathways that can be used in a family-centered network-based intervention that promotes disease prevention and health promotion in at-risk families. To this end, efforts will be focused on assessing whether there is a consistent, small set of relational characteristics associated with the dissemination of family risk information and processes of both behavioral and emotional adaptation to disease risk across various disease and cultural contexts. The second objective is to examine the feasibility of using cognitive network approaches to assess social interactions among family members as a means to enhance the implementation of a network-based intervention. A cognitive network is an individual's perception of the relationships among their family (or network) members. Thus, cognitive network approaches can potentially be used to capture an accurate representation of family social structure based on the information provided by a small subset of optimally situated family members. Those key social pathways identified within the first objective of this research will be used to address the second objective. Families affected by diseases and disorders that span the spectrum of genetic penetrance, ranging from highly penetrant, monogenetic disease to less penetrant, common complex conditions, will be recruited for the study. Further, the current effort will seek to engage samples from diverse cultural backgrounds to address our limited knowledge regarding risk communication and adaptation in such families and to facilitate generalization of results. Study participants will be recruited from established cohorts, outreach events, or ongoing studies, both at the NIH and at extramural institutions. Family members will be recruited using a snowball sampling approach and will be asked to complete an in-person, web-based and/or telephone survey/interview. Interviews will have a semi-structured format to allow for slight deviations in prompts and probes to address participant questions. The research addressed in this protocol will lead to the development of an innovative methodology with the potential to improve the design and implementation of family-based interventions that promote disease prevention.
- Conditions
- Sickle Cell, Diabetes, Cancer, Cardiovascular Disease, Genetic Screening
- Keywords
- Support, Cancer, Network, Diabetes, Sickle Cell Trait / Sickle Cell Disease, Natural History
- Medical subject headings
- Diabetes Mellitus, Neoplasms, Cardiovascular Diseases, Sickle Cell Trait, Anemia, Sickle Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Diabetes | Self/Family member affected by type-2 diabetes (plus self-referred family-members) | |
| Heritable Cancer Screen-Positive | Person who has screened-positive for heritable cancers on genetic tests (plus referred family-members) | |
| Sickle Cell (Trait/Disease/Related) | Self/Family member affected by Sickle Cell Trait or Sickle Cell Disease (plus self-referred family-members) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Social & relational factors from family network data
Identify social and relational factors used to characterize family environment re communication of health information, encouragement of health behaviors, provision of support.
Measured: Varies by sub-study
Secondary outcomes (1)
Cognitive network utility evaluation
Evaluate the utility of cognitive network approaches to characterize the family social environment
Measured: Varies by sub-study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jul 2012 (estimated)
- Study start5 Jul 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Sickle CellStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 1,061 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Laura M Koehly, Ph.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01633021
- Sponsor's protocol ID
- 999912149
- Other IDs
- 12-HG-N149
- Status last verified
- 15 Jan 2026
- First submitted
- 29 Jun 2012
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Lewis MA, McBride CM, Pollak KI, Puleo E, Butterfield RM, Emmons KM. Understanding health behavior change among couples: an interdependence and communal coping approach. Soc Sci Med. 2006 Mar;62(6):1369-80. doi: 10.1016/j.socscimed.2005.08.006. Epub 2005 Sep 16.
PubMed 16146666Stokols D. Establishing and maintaining healthy environments. Toward a social ecology of health promotion. Am Psychol. 1992 Jan;47(1):6-22. doi: 10.1037//0003-066x.47.1.6.
PubMed 1539925Ersig AL, Williams JK, Hadley DW, Koehly LM. Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: a pilot study. Genet Med. 2009 Oct;11(10):728-34. doi: 10.1097/GIM.0b013e3181b3f42d.
PubMed 19707152Desine S, Eskin L, Bonham VL, Koehly LM. Social support networks of adults with sickle cell disease. J Genet Couns. 2021 Oct;30(5):1418-1427. doi: 10.1002/jgc4.1410. Epub 2021 Apr 12.
PubMed 33847032
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of the Family Map: Examination of Communal Coping Across Disease Context
- ClinicalTrials.gov ID
- NCT01633021
- Acronym / sponsor ID
- 999912149
- Conditions
- Sickle Cell, Diabetes, Cancer, Cardiovascular Disease, Genetic Screening
- Keywords
- Support, Cancer, Network, Diabetes, Sickle Cell Trait / Sickle Cell Disease, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,061 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 5 Jul 2012 (actual)
- First posted
- 4 Jul 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
- Knowing one s family medical history is a part of staying healthy. Some health risks run in families, and knowing these risks can promote more healthy behavior. Different social and cultural factors may affect how family members share this information. Genetic risk information that is shared in one family may not be shared in the same way in another. This information may also be shared differently between spouses, siblings, or parents and children. It may even be shared with more distant relatives. Knowing the information that family members share and how they share it may help researchers improve genetic disease treatment and support plans. Family surveys of people who have genetic health risks may help provide this information.
Objectives:
- To study how family members affected by genetic-related diseases share health information with each other.
Eligibility:
- Individuals at least 18 years of age who can read English or Spanish.
- Participants affected by a genetic disease or be related or married to someone who has the disease.
Design:
- Participants will be screened with an initial questionnaire. They will identify their genetic disease and provide a basic health history.
- Participants who have the disease will complete an online survey or participate in a personal interview. The questions will take about 45 minutes to 1 hour to answer. The survey will ask about family health history and family support. Participants will also provide referrals to a spouse or relatives who will participate in the study.
- The spouse or relative will answer a similar survey. The survey will ask about health history and support for the spouse/relative with the disease.
- A gift card will be given as thanks for participating in the study.
Detailed description
Facilitating the dissemination of disease risk information and promoting engagement in healthful behaviors within families may be enhanced by using network-based interventions. Network-based interventions are innovative in that they are tailored to the structure of the social system within which individuals are embedded. Understanding the social and relational factors associated with processes of family risk dissemination, family encouragement, and support is essential to developing network-based intervention tools targeting the family. The first objective of the current project is to ascertain those key social pathways that can be used in a family-centered network-based intervention that promotes disease prevention and health promotion in at-risk families. To this end, efforts will be focused on assessing whether there is a consistent, small set of relational characteristics associated with the dissemination of family risk information and processes of both behavioral and emotional adaptation to disease risk across various disease and cultural contexts. The second objective is to examine the feasibility of using cognitive network approaches to assess social interactions among family members as a means to enhance the implementation of a network-based intervention. A cognitive network is an individual's perception of the relationships among their family (or network) members. Thus, cognitive network approaches can potentially be used to capture an accurate representation of family social structure based on the information provided by a small subset of optimally situated family members. Those key social pathways identified within the first objective of this research will be used to address the second objective. Families affected by diseases and disorders that span the spectrum of genetic penetrance, ranging from highly penetrant, monogenetic disease to less penetrant, common complex conditions, will be recruited for the study. Further, the current effort will seek to engage samples from diverse cultural backgrounds to address our limited knowledge regarding risk communication and adaptation in such families and to facilitate generalization of results. Study participants will be recruited from established cohorts, outreach events, or ongoing studies, both at the NIH and at extramural institutions. Family members will be recruited using a snowball sampling approach and will be asked to complete an in-person, web-based and/or telephone survey/interview. Interviews will have a semi-structured format to allow for slight deviations in prompts and probes to address participant questions. The research addressed in this protocol will lead to the development of an innovative methodology with the potential to improve the design and implementation of family-based interventions that promote disease prevention.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Diabetes | – | –Self/Family member affected by type-2 diabetes (plus self-referred family-members) |
| Heritable Cancer Screen-Positive | – | –Person who has screened-positive for heritable cancers on genetic tests (plus referred family-members) |
| Sickle Cell (Trait/Disease/Related) | – | –Self/Family member affected by Sickle Cell Trait or Sickle Cell Disease (plus self-referred family-members) |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Recruitment is appropriate to the disease/screening-specific context, and may work with advocacy groups. Prospective participants who have / are at risk for chronic genetic disease (or are related to someone affected by condition) may be eligible to participate.@@@
Key inclusion criteria (4 listed)
- Aged 18 years or older
- Ability to complete in-person, web-based or telephone survey/interview(s)
- Ability to read English or Spanish (in some cases)
- Affected by or have at least one first- or second-degree relative affected by or have a spouse/partner affected by the disease(s) of interest OR Biological or non-biological (e.g. adopted, step, spouse, family through marriage) relative of the primary participant.
Key exclusion criteria (1 listed)
- Individuals with cognitive difficulties will be excluded from the study, as participants will be required to comprehend and legally consent to participation in this study and complete the survey/interview(s).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Social & relational factors from family network data
Time frame: Varies by sub-study
Identify social and relational factors used to characterize family environment re communication of health information, encouragement of health behaviors, provision of support.
1 secondary outcome
Cognitive network utility evaluation
Time frame: Varies by sub-study
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Background: PubMed 16146666Lewis MA, McBride CM, Pollak KI, Puleo E, Butterfield RM, Emmons KM. Understanding health behavior change among couples: an interdependence and communal coping approach. Soc Sci Med. 2006 Mar;62(6):1369-80. doi: 10.1016/j.socscimed.2005.08.006. Epub 2005 Sep 16.
- Background: PubMed 1539925Stokols D. Establishing and maintaining healthy environments. Toward a social ecology of health promotion. Am Psychol. 1992 Jan;47(1):6-22. doi: 10.1037//0003-066x.47.1.6.
- Background: PubMed 19707152Ersig AL, Williams JK, Hadley DW, Koehly LM. Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: a pilot study. Genet Med. 2009 Oct;11(10):728-34. doi: 10.1097/GIM.0b013e3181b3f42d.
- Derived from this study: PubMed 33847032Desine S, Eskin L, Bonham VL, Koehly LM. Social support networks of adults with sickle cell disease. J Genet Couns. 2021 Oct;30(5):1418-1427. doi: 10.1002/jgc4.1410. Epub 2021 Apr 12.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laura M Koehly, Ph.D. principal investigator
National Human Genome Research Institute (NHGRI)
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sickle Cell and Diabetes, run by National Human Genome Research Institute (NHGRI) at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Social & relational factors from family network data (time frame: Varies by sub-study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01633021, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.