Inherited Metabolic DisordersNCT05007990
Caregiving Networks Across Disease Context and the Life Course
An observational study of Inherited Metabolic Disorders and Undiagnosed Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Read more about this study
- Who is it for?
- Ages 18 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease
- How many people
- 2,800 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Sep 2022to 31 Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- Healthy volunteers accepted
- Adult, Older adult
Study population: Referencing the enrollment numbers from the study of Inherited Diseases, Caregiving, and Social Networks (PI: Koehly, protocol #12HG0022), this longitudinal study will initially recruit from existing participants enrolled in #12HG0022. Family caregivers providing ongoing support for a chronically ill individual may be identified and informed about the Longitudinal Caregiving Study by an intramural NIH investigator involved in natural history protocols. Caregivers may also be recruited through other (nonNIH) clinicians, researchers, advocacy groups, online and traditional advertising, and ClinicalTrials.gov.
Who may be able to join
- To be eligible to participate in this study, an individual must meet all of the following criteria:
- Adults aged 18 years and older
- If the Care Recipient is living, they must self-identify as a primary caregiver to the Care Recipient (individual with a chronic medical condition), OR if the Care Recipient is deceased, they must self-identify as having been a primary caregiver to the now-deceased Care Recipient, OR they must otherwise be identified (i.e., referred) by a participant as a part of the caregiving network
- Ability to consent to research
- Fluency in English will be needed to complete interview as well as to read, comprehend surveys and consent forms, as appropriate validated measures in other languages are not readily available.
- Physically capable of participating in applicable assessments
Who cannot join
- An individual who meets any of the following criteria will be excluded from this study:
- Care Recipients (as defined in this protocol)
- Staff of NHGRI
- Staff of NHGRI are unable to participate in this study as a safeguard against the risk of ethical concerns. As per OHSRP SOP 404, NIH staff may be a vulnerable class of study subjects. Excluding staff of the Institute conducting the study assures there will not be any perceived or actual conflict of interest, pressure/coercion to participate among co-workers, subordinates, work unit-members, etc. As further noted in OHSRP SOP 404, exclusion further protects this class of subjects privacy and confidentiality; and protects the study s scientific integrity.
- Persons with impaired neuro-sensory or decision-making ability (adults unable to provide consent) will not be enrolled in the study. Persons with impaired neuro-sensory or decision making ability would not be able to participate with independent responses to the various social behavioral measures we use in the study interview and survey. Learning information about these individuals through other people instead of themselves would introduce bias to this study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study
Background:
In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.
Read more
Objective:
To learn how the caregiving process affects the health and well-being of caregivers over time.
Eligibility:
Adults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities.
Design:
Participants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years.
Participants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support.
Participants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life.
Participants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving.
Participants may give a blood sample each year they are in the study.
...
Read the detailed description
Study Description: Caregivers will be invited to participate in surveys and interviews to assess their cognitions and emotions about caregiving, caregiving burden, and caregiving or support network systems during the life of the Care Recipient. The study will also include a bereavement component, in which families who have experienced the death of a Care Recipient may choose to participate. In addition, biomarkers may be evaluated in consenting individuals to assess genetic susceptibility to stress and stress-related dysregulations in the endocrine and immune systems.
Objectives: The primary objective of this study is to investigate the natural history of family caregiver stress over time, providing opportunity to understand the social, psychological, behavioral, and biological factors that characterize caregivers response to long-term caregiving during the life and after death of a Care Recipient with a chronic medical condition.
Endpoints: To assess the change over time in terms of social, psychological, behavioral, and biological factors associated with caregiving.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs, Diabetes
- Keywords
- Social Support, Rare Diseases, Natural History, Genetic Conditions, Family Network
- Medical subject headings
- Undiagnosed Diseases, Neuronal Ceroid-Lipofuscinoses, Diabetes Mellitus, Rare Diseases
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 |
|---|---|---|
| Active | Participants include individuals who are caregivers of an individual with a chronic medical condition, OR individuals who support caregivers of an individual with a chronic medical condition. | |
| Bereaved | Participants include individuals who were caregivers of an individual with a chronic medical condition who has died, OR individuals who support the caregiver. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural History
Investigate the natural history of family caregiving to identify the social, psychological, behavioral, and biological mechanisms that determine possible long-term changes in health during the life and after death of a Care Recipient with a chronic medical condition.
Measured: Annually / quarterly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2021
- Study start8 Sep 2022
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Metabolic DisordersStudies 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
- Prospective
- Enrolment
- 2,800 participants (estimated)
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
- NCT05007990
- Sponsor's protocol ID
- 210020
- Other IDs
- 21-HG-0020
- Status last verified
- 11 Sep 2026
- First submitted
- 14 Aug 2021
- Last updated
- 15 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study
- ClinicalTrials.gov ID
- NCT05007990
- Acronym / sponsor ID
- 210020
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs, Diabetes
- Keywords
- Social Support, Rare Diseases, Natural History, Genetic Conditions, Family Network
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,800 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 8 Sep 2022 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 17 Aug 2021 (actual)
- 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:
In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.
Objective:
To learn how the caregiving process affects the health and well-being of caregivers over time.
Eligibility:
Adults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities.
Design:
Participants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years.
Participants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support.
Participants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life.
Participants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving.
Participants may give a blood sample each year they are in the study.
...
Detailed description
Study Description: Caregivers will be invited to participate in surveys and interviews to assess their cognitions and emotions about caregiving, caregiving burden, and caregiving or support network systems during the life of the Care Recipient. The study will also include a bereavement component, in which families who have experienced the death of a Care Recipient may choose to participate. In addition, biomarkers may be evaluated in consenting individuals to assess genetic susceptibility to stress and stress-related dysregulations in the endocrine and immune systems.
Objectives: The primary objective of this study is to investigate the natural history of family caregiver stress over time, providing opportunity to understand the social, psychological, behavioral, and biological factors that characterize caregivers response to long-term caregiving during the life and after death of a Care Recipient with a chronic medical condition.
Endpoints: To assess the change over time in terms of social, psychological, behavioral, and biological factors associated with caregiving.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Active | – | –Participants include individuals who are caregivers of an individual with a chronic medical condition, OR individuals who support caregivers of an individual with a chronic medical condition. |
| Bereaved | – | –Participants include individuals who were caregivers of an individual with a chronic medical condition who has died, OR individuals who support the caregiver. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Referencing the enrollment numbers from the study of Inherited Diseases, Caregiving, and Social Networks (PI: Koehly, protocol #12HG0022), this longitudinal study will initially recruit from existing participants enrolled in #12HG0022. Family caregivers providing ongoing support for a chronically ill individual may be identified and informed about the Longitudinal Caregiving Study by an intramural NIH investigator involved in natural history protocols. Caregivers may also be recruited through other (nonNIH) clinicians, researchers, advocacy groups, online and traditional advertising, and ClinicalTrials.gov.
Key inclusion criteria (6 listed)
- To be eligible to participate in this study, an individual must meet all of the following criteria:
- Adults aged 18 years and older
- If the Care Recipient is living, they must self-identify as a primary caregiver to the Care Recipient (individual with a chronic medical condition), OR if the Care Recipient is deceased, they must self-identify as having been a primary caregiver to the now-deceased Care Recipient, OR they must otherwise be identified (i.e., referred) by a participant as a part of the caregiving network
- Ability to consent to research
- Fluency in English will be needed to complete interview as well as to read, comprehend surveys and consent forms, as appropriate validated measures in other languages are not readily available.
Key exclusion criteria (5 listed)
- Care Recipients (as defined in this protocol)
- Staff of NHGRI
- Staff of NHGRI are unable to participate in this study as a safeguard against the risk of ethical concerns. As per OHSRP SOP 404, NIH staff may be a vulnerable class of study subjects. Excluding staff of the Institute conducting the study assures there will not be any perceived or actual conflict of interest, pressure/coercion to participate among co-workers, subordinates, work unit-members, etc. As further noted in OHSRP SOP 404, exclusion further protects this class of subjects privacy and confidentiality; and protects the study s scientific integrity.
- Persons with impaired neuro-sensory or decision-making ability (adults unable to provide consent) will not be enrolled in the study. Persons with impaired neuro-sensory or decision making ability would not be able to participate with independent responses to the various social behavioral measures we use in the study interview and survey. Learning information about these individuals through other people instead of themselves would introduce bias to this study.
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
Natural History
Time frame: Annually / quarterly
Investigate the natural history of family caregiving to identify the social, psychological, behavioral, and biological mechanisms that determine possible long-term changes in health during the life and after death of a Care Recipient with a chronic medical condition.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Sep 2026.
- 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.
Laura M Koehly, Ph.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Metabolic Disorders and Undiagnosed Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site 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 6 inclusion and 5 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: looking for participants now, as of the sponsor's last update on 15 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Laura M Koehly, Ph.D. ((301) 451-3999, koehlyl@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural History (time frame: Annually / quarterly). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 15 Sep 2026.