An observational study in Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child) and Inherited Neurodegenerative Disorders, sponsored by National Human Genome Research Institute (NHGRI). Completed at 2 sites in United States. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-02.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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.
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.
152 studies on the registry are indexed under Metabolism, Inborn Errors; 22 are open to participants now.
This study's enrollment of 682 is above the median of 65 across 45 observational studies indexed under Metabolism, Inborn Errors.
Browse Metabolism, Inborn Errors studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
Compared within Metabolism, Inborn Errors, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Undiagnosed Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →
This is a study has family-based enrollment of caregivers and their social support networks. Specific context of recruitment may vary depending upon the health condition of the affected family member; number of severe, chronic conditions with genetic basis are among the inclusion criteria. For the substudy of caregivers of persons affected by Alzheimer s disease and related dementias (AD), recruitment took place in residential facilities in Memphis, TN [substudy1; data analysis only]. Caregivers of persons affected by inborn errors of metabolism, genetic neurodegenerative conditions, or with severe chronic undiagnosed conditions may be referred in to the protocol by NIH collaborators or through advocacy groups. Healthy volunteers (parents of healthy child/ren) are recruited through NIH and in the community. The study uses snowball sampling of self-referral: each participant is invited to refer in support network members who also provide support/care for the focus-relative.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
inflammatory conditions) OR
(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.)
EXCLUSION CRITERIA:
Enrollment was open to family members of persons diagnosed with Alzheimers (/related dementia) in specific communities around Memphis, TN.
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.
Enrolls family members of persons diagnosed with inborn errors of metabolism / mitochondrial disorders. Study at NIH or remote (internet/phone); request family-referrals for remote participation.
Open to family members of persons diagnosed with genetically-defined neurodegenerative conditions. Study at NIH or (internet/phone); request referral of family members for remote participation.
Open to parents of typically-developing child/ren \<18yrs (\*when age-matched child is full-time resident of parent's home). Study at NIH; request family-referrals for remote participation.
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
Measures of caregiving processes
Develop measures of caregiving processes within family social network systems
Time frame: Interim, completion
Family network characteristics
Identify family network characteristics associated with positive adaptation
Time frame: Interim, completion
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is completed, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
National Human Genome Research Institute (NHGRI) →