Undiagnosed DiseaseNCT01498263
Inherited Diseases, Caregiving, and Social Networks
An observational study of Undiagnosed Disease and Healthy Volunteer (Adult With Typically Developing Child), run by National Human Genome Research Institute (NHGRI) at 2 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders
- How many people
- 682 participants
- Where
- 2 sitesUnited States
- Study dates
- 9 Jan 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- 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.
Show all 9Show fewer
- (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
Who cannot join
- 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)
Trial locations and contacts
2 sites in 1 country.
United States2 sites
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
University of Memphis
Memphis, Tennessee, 38152
About this study
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.
Read more
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.
Read the detailed description
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.
- Conditions
- 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
- Keywords
- Genetic Condition, Family Network, Social Support, Natural History
- Medical subject headings
- Undiagnosed Diseases, Metabolism, Inborn Errors, Alzheimer Disease, Genetic Diseases, Inborn
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 |
|---|---|---|
| Alzheimers related dementias (family) | Enrollment was open to family members of persons diagnosed with Alzheimers (/related dementia) in specific communities around Memphis, TN. | |
| Inherited inflammatory condition (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. | |
| 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 family-referrals for remote participation. | |
| Inherited neurodegenerative disorders (family) | 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. | |
| Typically developing (family) = Healthy Volunteers | 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. | |
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measures of caregiving processes
Develop measures of caregiving processes within family social network systems
Measured: Interim, completion
Family network characteristics
Identify family network characteristics associated with positive adaptation
Measured: Interim, completion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Dec 2011 (estimated)
- Study start9 Jan 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Undiagnosed DiseaseStudies 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
- 682 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
- NCT01498263
- Sponsor's protocol ID
- 120022
- Other IDs
- 12-HG-0022
- Status last verified
- 29 Sep 2026
- First submitted
- 21 Dec 2011
- Last updated
- 2 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Zajdel M, Davidson H, Lea D, Koehly LM. Links of we-talk to caregiver social network systems and health. J Fam Psychol. 2022 Dec;36(8):1386-1396. doi: 10.1037/fam0001013. Epub 2022 Aug 4.
PubMed 35925717
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Inherited Diseases, Caregiving, and Social Networks
- ClinicalTrials.gov ID
- NCT01498263
- Acronym / sponsor ID
- 120022
- Conditions
- 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
- Keywords
- Genetic Condition, Family Network, Social Support, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 682 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 9 Jan 2012 (actual)
- First posted
- 23 Dec 2011 (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.
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.
Detailed description
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 design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Alzheimers related dementias (family) | – | –Enrollment was open to family members of persons diagnosed with Alzheimers (/related dementia) in specific communities around Memphis, TN. |
| Inherited inflammatory condition (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. |
| 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 family-referrals for remote participation. |
| Inherited neurodegenerative disorders (family) | – | –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. |
| Typically developing (family) = Healthy Volunteers | – | –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. |
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (9 listed)
- 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
Key exclusion criteria (6 listed)
- 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.
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
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
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 2 Oct 2026.
- Derived from this study: PubMed 35925717Zajdel M, Davidson H, Lea D, Koehly LM. Links of we-talk to caregiver social network systems and health. J Fam Psychol. 2022 Dec;36(8):1386-1396. doi: 10.1037/fam0001013. Epub 2022 Aug 4.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Undiagnosed Disease and Healthy Volunteer (Adult With Typically Developing Child), run by National Human Genome Research Institute (NHGRI) at 2 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 9 inclusion and 6 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 2 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 2 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?
Measures of caregiving processes (time frame: Interim, completion). The study lists 2 primary outcomes in all. 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 NCT01498263, which also lists 1 linked publication.
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 2 Oct 2026.