Inherited Diseases, Caregiving, and Social Networks
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ClinicalTrials.gov Identifier: NCT01498263 |
Recruitment Status :
Recruiting
First Posted : December 23, 2011
Last Update Posted : January 29, 2021
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Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregivers worry for themselves and relatives acquiring the disease or guilt related to the genetic etiology of their child s illness, as possible stressors; the current project fills this literature gap.
Caregiving processes may vary across type of illness and the life course. In illnesses that impact children, parents and grandparents may take on caregiving roles whereas in conditions that impact adults, spouses and adult children may provide care. Caregivers must adapt to the strain of caring for their affected relatives and this adaptation may differ depending on caregiver roles. The caregiver s support network may influence adaptation, impacting the health and well-being of patients, their caregivers, and other relatives.
This project, comprised of 5 substudies, will examine social contexts surrounding families involved in caring for individuals with chronic inherited conditions from a relational perspective. Surveys and interviews will assess participants cognitions and emotions about the disease, caregiving burden and caregiving/support network systems. In addition, biomarkers will be considered in 2 substudies to examine how caregiving roles and expectations impact health among caregivers. As part of our current inquiry, we have
developed an assessment tool aimed at understanding caregiver experiences related to dietary practices in the context of metabolic conditions. To evaluate the psychometric properties of this scale, we propose a fifth substudy under the current protocol.
We aim to recruit at least 5550 participants through residential/daycare centers, advocacy groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological and non-biological adult relatives of affected individuals and typically developing controls to construct and evaluate caregiving/support network systems. This project will use a social network framework to develop and adapt common measures of caregiving roles to evaluate burden, perceptual bias, and unmet expectations in caregiving. The psychometric properties of these new measures, characteristics of family caregiving and support networks, and how these network characteristics are associated with caregiving strain and well-being, including biomarkers of physical health, will be investigated. The moderating role of family members cognitions and emotions and disease context will be considered. Findings will guide future research to develop network-based interventions promoting positive adaptation to the presence of inherited conditions in families through improved social environments and coping skills.
Condition or disease |
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Alzheimer Disease and Related Dementias Healthy Volunteer (Adult With Typically Developing Child) Inherited Neurodegenerative Disorders Inherited Metabolic Disorders (Inborn Errors of Metabolism) Undiagnosed Diseases |
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregivers worry for themselves and relatives acquiring the disease or guilt related to the genetic etiology of their child s illness, as possible stressors; the current project fills this literature gap.
Caregiving processes may vary across type of illness and the life course. In illnesses that impact children, parents and grandparents may take on caregiving roles whereas in conditions that impact adults, spouses and adult children may provide care. Caregivers must adapt to the strain of caring for their affected relatives and this adaptation may differ depending on caregiver roles. The caregiver s support network may influence adaptation, impacting the health and well-being of patients, their caregivers, and other relatives.
This project, comprised of 5 substudies, will examine social contexts surrounding families involved in caring for individuals with chronic inherited conditions from a relational perspective. Surveys and interviews will assess participants cognitions and emotions about the disease, caregiving burden and caregiving/support network systems. In addition, biomarkers will be considered in 2 substudies to examine how caregiving roles and expectations impact health among caregivers. As part of our current inquiry, we have
developed an assessment tool aimed at understanding caregiver experiences related to dietary practices in the context of metabolic conditions. To evaluate the psychometric properties of this scale, we propose a fifth substudy under the current protocol.
We aim to recruit at least 5550 participants through residential/daycare centers, advocacy groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological and non-biological adult relatives of affected individuals and typically developing controls to construct and evaluate caregiving/support network systems. This project will use a social network framework to develop and adapt common measures of caregiving roles to evaluate burden, perceptual bias, and unmet expectations in caregiving. The psychometric properties of these new measures, characteristics of family caregiving and support networks, and how these network characteristics are associated with caregiving strain and well-being, including biomarkers of physical health, will be investigated. The moderating role of family members cognitions and emotions and disease context will be considered. Findings will guide future research to develop network-based interventions promoting positive adaptation to the presence of inherited conditions in families through improved social environments and coping skills.
Study Type : | Observational |
Estimated Enrollment : | 5550 participants |
Observational Model: | Family-Based |
Time Perspective: | Cross-Sectional |
Official Title: | Inherited Diseases, Caregiving, and Social Networks |
Actual Study Start Date : | January 9, 2012 |

Group/Cohort |
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Alzheimers related dementias (family)
Enrollment was open to family members of persons diagnosed with Alzheimers (/relateddementia) in specific communities around Memphis, TN.
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Inherited inflammatory conditions (family)
Enrollment open to family members of persons diagnosed with inherited inflammatory conditions. Participation at NIH or remote (internet/phone); request referral of family for remote participation.
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Inherited metabolic conditions (family)
Enrolls family members of persons diagnosed with inborn errors of metabolism / mitochondrial disorders. Study at NIH or remote (internet/phone); request familyreferralsfor remote participation.
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Inherited neurodegenerative disorders (family)
Open to family members of persons diagnosed with genetically-defined neurodegenerativeconditions. Study at NIH or (internet/phone); request referral of family members for remoteparticipation.
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Typically developing (family) = Healthy Volunteers
Open to parents of typically-developing child/ren <18yrs (*when age-matched child is fulltime resident of parent's home). Study at NIH; request family-referrals for remoteparticipation.
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Undiagnosed conditions (family)
Enrollment open to family members referred in from the Undiagnosed Disease Network.Participation at NIH or remote (internet /phone); request referral of family members for remote participation
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- Measures of caregiving processes [ Time Frame: Interim, completion ]Develop measures of caregiving processes within family social network systems
- Family network characteristics [ Time Frame: Interim, completion ]Identify family network characteristics associated with positive adaptation

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
- Adult family members of the individuals affected by an inherited disease (e.g. Alzheimer s disease, inborn errors of metabolism and mitochondrial disease, lysosomal storage disorder, genetic neurodegenerative disorder, undiagnosed diseases, and inherited
inflammatory conditions) OR
- Informal caregivers of the affected individual OR
- Caregivers family members OR
- Formal caregivers who are identified as part of patients caregiving networks will be eligible for recruitment in the study OR
- For the control group in Substudy 2, adult family members of normally developing children, informal caregivers, caregivers family members and formal caregivers who are identified as part of the child s caregiving network will be eligible for recruitment in the study.
(For better matching across groups: in the Healthy Volunteer controls, the normally developing focus child must live in the parent/caregiver household on a full-time basis.)
- Participants are eligible for biospecimen collection in Substudies 3 only if two parents/caregivers are present in the household, eligible, and willing to provide biospecimens.
- Fluency in English
EXCLUSION CRITERIA:
- Those who are unable to complete the survey and interviews
- Affected individuals/Patients with condition being studied
- Individuals under the age of 18
- Those who have fever or signs of acute infection on the collection day, have been hospitalized in the past 3 months, and women who are currently pregnant or nursing will not be eligible for the biospecimen collection portion of Substudies 2 and 3 but will be eligible for the survey/interview portion of the substudies.
- Control group individuals will be excluded if they serve as a caregiver for anyone in their family affected by any major medical condition.
- Staff of NHGRI (National Human Genome Research Institute)

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): NCT01498263
Contact: Patricia M Cooper | (301) 451-0911 | CaregivingStudy@mail.nih.gov | |
Contact: Laura M. Koehly, Ph.D. | (301) 451-3999 | koehlyl@mail.nih.gov |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Principal Investigator: | Laura M. Koehly, Ph.D. | National Human Genome Research Institute (NHGRI) |
Responsible Party: | National Human Genome Research Institute (NHGRI) |
ClinicalTrials.gov Identifier: | NCT01498263 |
Other Study ID Numbers: |
120022 12-HG-0022 |
First Posted: | December 23, 2011 Key Record Dates |
Last Update Posted: | January 29, 2021 |
Last Verified: | January 26, 2021 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Genetic Condition Family Network Social Support |
Alzheimer Disease Neurodegenerative Diseases Metabolism, Inborn Errors Metabolic Diseases Disease Pathologic Processes Dementia |
Brain Diseases Central Nervous System Diseases Nervous System Diseases Tauopathies Neurocognitive Disorders Mental Disorders Genetic Diseases, Inborn |