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Protocol Details

Inherited Diseases, Caregiving, and Social Networks

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18 Years
Max Age: N/A

Referral Letter Required


Population Exclusion(s)

Non-English Speaking


Genetic Condition;
Family Network;
Social Support;
Natural History

Recruitment Keyword(s)



Undiagnosed Disease;
Healthy Volunteer (Adult with typically developing child);
Inherited Neurodegenerative Disorders;
Inherited metabolic disorders (Inborn errors of metabolism);
Alzheimer's disease and related dementias

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute

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.

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-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


-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)

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Laura M. Koehly, Ph.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 31
Room B1B54
31 Center Drive
Bethesda, Maryland 20892
(301) 451-3999

Patricia M. Cooper
National Human Genome Research Institute (NHGRI)
BG 31 RM B1B54
(301) 219-3394

Andrea F. Goergen
National Institutes of Health
Building 31
Room B1B37D
31 Center Drive
Bethesda, Maryland 20892
(301) 443-8185

Clinical Trials Number:


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