Genetic ConditionsNCT05657405
Observational Study of Advanced Data Analytics in Genetic Conditions
An observational study of Genetic Conditions, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Background: The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. Read more about this study
- Who is it for?
- Ages 1 day to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Conditions
- How many people
- 1,250 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Jul 2026to 31 Dec 2032
- 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 1 day to 120 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: We will collect data from individuals with known or suspected genetic conditions, as well as relevant (unaffected) family members. We will also collect data from unrelated, unaffected individuals to use as control data to compare findings to those with genetic conditions. There will be multiple ways to participate and no restriction based on sex, age, demographic group, general health status, or geographic location, though individuals who participate in person through the NIH Clinical Center will primarily come from within the United States (telehealth will not take place in international locations or other circumstances where telehealth is not allowed). Due to sample size requirements needed to develop and use our planned methods, we overall anticipate collecting data from many thousands of individuals.
Who may be able to join
- To be eligible to participate in the website-based data collection portion, individuals must be known or suspected to have a genetic condition, or to be the relative of a person with a known or suspected genetic condition, and be willing to consent to and share the requested information with the study team. Adults unable to provide consent must have a Legally Authorized Representative [LAR] (who can provide evidence of this status by providing guardianship paperwork, which will be verified) be able to provide consent.
- To be eligible for the Clinical Center-based portion of this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Male or female, from age 0 to over 100 years of age (the NIH Clinical Center's age-based eligibility criteria will be followed for any individuals who come to the Clinical Center for participation such that individuals <3 years of age will have a screening form submitted to the Pediatrics consult service, and admissions will follow current Clinical Center limits based on age such that admissions to 1NW generally have to be > 2 years of age)
- Either:
- A person who is known or suspected to have a genetic condition based on medical and/or family history
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- A person who is a family member of a person known or suspected to have a genetic condition (and who is themselves not known or suspected to have a genetic condition)
- Ability of subject (or Legally Authorized Representative [LAR], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document.
- To be eligible for the virtual conversation portion of this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Either:
- A person over 18 years of age who is known to have a genetic condition based on medical and/or family history
- A parent or guardian of a person known to have a genetic condition (and who is themselves not known or suspected to have a genetic condition)
- Ability of subject (or Legally Authorized Representative [LAR], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document.
Who cannot join
- Individuals who are pregnant will be excluded from the Clinical Center-based portion of the study. There are no other exclusionary criteria except that individuals will be excluded from participation in this study if they are unable or unwilling to participate.
- The PI/AI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, or for any concerns arising after review of the laboratory and clinical data.
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
Background:
The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people.
Read more
Objective:
This natural history study will gather medical information from people with genetic conditions.
Eligibility:
People of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition.
Design:
Participants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include:
Blood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing.
Imaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images.
Heart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest.
Photographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made.
Some people may be able to participate via telehealth.
Read the detailed description
Study Description:
We hypothesize that the use of advanced, computationally-based analytic techniques can provide insights into the causes, manifestations, and mechanisms of genetic diseases. To address this hypothesis, we will collect phenotypic and biologic data relevant to genetic conditions and will study computational tools that analyze these data.
Objectives:
Primary Objectives: To collect, collate, and analyze datasets relevant to genetic conditions using advanced computational approaches, with the objective of developing and iterating novel methods that can efficiently and accurately parse diverse, complex datasets related to genetic conditions to reveal novel clinical and biological insights, and that can be compared to current and other state-of-the-art approaches.
Endpoints:
Primary Endpoint: Not applicable
Secondary Endpoints: Not applicable
- Conditions
- Genetic Conditions
- Keywords
- Artificial Intelligence, Genetic Conditions, Deep Learning, Advanced Analytics, Computer Vision, Natural History
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 |
|---|---|---|
| Affected | Individuals with known or suspect genetic conditions | |
| Family member | Family members of individuals with known or suspected genetic conditions |
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural History
To collect, collate, and analyze datasets relevant to genetic conditions using advanced computational approaches, with the objective of developing and iterating novel methods that can efficiently and accurately parse diverse, complex datasets related to genetic conditions to reveal novel clinical and biological insights
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Dec 2022
- Study start29 Jul 2026
- Primary completion31 Dec 2032 (estimated)
- Study completion31 Dec 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic ConditionsStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Benjamin D Solomon, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05657405
- Sponsor's protocol ID
- 10000547
- Other IDs
- 000547-HG
- Status last verified
- 14 Aug 2026
- First submitted
- 17 Dec 2022
- Last updated
- 18 Aug 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 18 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Study of Advanced Data Analytics in Genetic Conditions
- ClinicalTrials.gov ID
- NCT05657405
- Acronym / sponsor ID
- 10000547
- Conditions
- Genetic Conditions
- Keywords
- Artificial Intelligence, Genetic Conditions, Deep Learning, Advanced Analytics, Computer Vision, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,250 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 29 Jul 2026 (actual)
- Primary completion
- 31 Dec 2032 (estimated)
- Study completion
- 31 Dec 2032 (estimated)
- First posted
- 20 Dec 2022 (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:
The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people.
Objective:
This natural history study will gather medical information from people with genetic conditions.
Eligibility:
People of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition.
Design:
Participants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include:
Blood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing.
Imaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images.
Heart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest.
Photographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made.
Some people may be able to participate via telehealth.
Detailed description
Study Description:
We hypothesize that the use of advanced, computationally-based analytic techniques can provide insights into the causes, manifestations, and mechanisms of genetic diseases. To address this hypothesis, we will collect phenotypic and biologic data relevant to genetic conditions and will study computational tools that analyze these data.
Objectives:
Primary Objectives: To collect, collate, and analyze datasets relevant to genetic conditions using advanced computational approaches, with the objective of developing and iterating novel methods that can efficiently and accurately parse diverse, complex datasets related to genetic conditions to reveal novel clinical and biological insights, and that can be compared to current and other state-of-the-art approaches.
Endpoints:
Primary Endpoint: Not applicable
Secondary Endpoints: Not applicable
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected | – | –Individuals with known or suspect genetic conditions |
| Family member | – | –Family members of individuals with known or suspected genetic conditions |
Who may qualify
- Ages
- 1 day to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We will collect data from individuals with known or suspected genetic conditions, as well as relevant (unaffected) family members. We will also collect data from unrelated, unaffected individuals to use as control data to compare findings to those with genetic conditions. There will be multiple ways to participate and no restriction based on sex, age, demographic group, general health status, or geographic location, though individuals who participate in person through the NIH Clinical Center will primarily come from within the United States (telehealth will not take place in international locations or other circumstances where telehealth is not allowed). Due to sample size requirements needed to develop and use our planned methods, we overall anticipate collecting data from many thousands of individuals.
Key inclusion criteria (14 listed)
- To be eligible to participate in the website-based data collection portion, individuals must be known or suspected to have a genetic condition, or to be the relative of a person with a known or suspected genetic condition, and be willing to consent to and share the requested information with the study team. Adults unable to provide consent must have a Legally Authorized Representative [LAR] (who can provide evidence of this status by providing guardianship paperwork, which will be verified) be able to provide consent.
- To be eligible for the Clinical Center-based portion of this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Male or female, from age 0 to over 100 years of age (the NIH Clinical Center's age-based eligibility criteria will be followed for any individuals who come to the Clinical Center for participation such that individuals <3 years of age will have a screening form submitted to the Pediatrics consult service, and admissions will follow current Clinical Center limits based on age such that admissions to 1NW generally have to be > 2 years of age)
- Either:
Key exclusion criteria (2 listed)
- Individuals who are pregnant will be excluded from the Clinical Center-based portion of the study. There are no other exclusionary criteria except that individuals will be excluded from participation in this study if they are unable or unwilling to participate.
- The PI/AI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, or for any concerns arising after review of the laboratory and clinical data.
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: Ongoing
To collect, collate, and analyze datasets relevant to genetic conditions using advanced computational approaches, with the objective of developing and iterating novel methods that can efficiently and accurately parse diverse, complex datasets related to genetic conditions to reveal novel clinical and biological insights
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 18 Aug 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.
Benjamin D Solomon, M.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 Genetic Conditions, 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 14 inclusion and 2 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 18 Aug 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 Rebekah L Waikel ((301) 435-6558, rebekah.waikel@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: Ongoing). 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 18 Aug 2026.