Genetic DiseaseSIGHTNCT06744543
Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease
A study testing SIGHT Prompted Provider Message in people with Genetic Disease and Pediatrics, run by Vanderbilt University Medical Center at 1 site in United States.
Trial summary
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Read more about this study
- Who is it for?
- Ages 1 year to 20 years
- Conditions the study is for
- Genetic Disease, Pediatrics, Predictive Model
- What is being tested?
- SIGHT Prompted Provider Message
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Mar 2025to 1 Feb 2027
- Phase
- Interventional
- 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 year to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- All patients > 1 year old, < 20 years of age with a scheduled visit to the VUMC pediatric primary care.
Who cannot join
- Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients > 20 years of age or < 1 year of age.
Trial locations and contacts
1 site in 1 country.
United States1 site
Vanderbilt University Medical
Nashville, Tennessee, 37232
About this study
Official title: Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
- Being tested
- SIGHT Prompted Provider Message
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SIGHT Prompted Provider MessageDevice
Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated.
| Study group | Role | What they receive |
|---|---|---|
| Intervention | Experimental | SIGHT predictions will be generated prior to a scheduled encounter in one of the participating study clinics. Patients with a SIGHT probability above a predefined risk level (0.30 predicted risk based on validation and prior chart review by a genetic counselor, Morley et al, 2021 below) will prompt randomization to the standard care or SIGHT-guided intervention arm.
For patients randomized to the SIGHT-guided intervention arm, the clinician responsible for care in that encounter (determined in the usual course of care) will receive a message for that patient and details as to the contributing clinical features that led to the high probability.
The message will include a recommendation, but providers will have full discretion to offer genetic testing or refer to genetics providers. The management of screening will follow standard of care at VUMC. Receives: Device: SIGHT Prompted Provider Message |
| Comparator | No intervention | All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Diagnoses in the intervention arm compared to the control arm
Number of patients diagnosed via a Chromosomal Microarray.
Measured: 2 years
Secondary outcomes (4)
Time to test
Duration of time to genetic testing. Time to event, measured from the initial patient visit to the time genetic testing is conducted.
Measured: 2 years
Abnormal CMA
Number of patients flagged by SIGHT who's CMA result returned abnormal but in the absence of diagnostic findings.
Measured: 2 years
Rate of genetic testing
Rates of genetic testing ordered by providers after a pediatric visit.
Measured: 2 years
Diagnosis via any test (molecular confirmation)
Number of patients flagged by SIGHT who receive a diagnosis via any molecular test.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Dec 2024
- Study start12 Mar 2025
- Primary completion1 Jan 2027 (estimated)
- Study completion1 Feb 2027 (estimated)
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 Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by Vanderbilt University Medical CenterThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- 1:1 allocation by predicted probability to either the intervention group, receiving a SIGHT-prompted provider message, or the control group, receiving standard care without the SIGHT-prompted message. The randomization process will be integrated into the routine clinical workflow, with SIGHT scores generated before regularly scheduled patient visits in pediatric primary care at VUMC.
- Masking
- None (open label)
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Vanderbilt University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Douglas Ruderfer, Vanderbilt University Medical Center
- Investigators
- Douglas Ruderfer, PhD, Principal investigator, Vanderbilt University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06744543
- Sponsor's protocol ID
- 241678
- Acronym
- SIGHT
- Status last verified
- Sep 2026
- First submitted
- 16 Dec 2024
- Last updated
- 30 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Patients in this study will receive standard of care at Vanderbilt University Medical Center (VUMC) and will not be consented for research participation. As a result, no individual participant data (IPD) will be made available for sharing with other researchers.
Publications
Morley TJ, Han L, Castro VM, Morra J, Perlis RH, Cox NJ, Bastarache L, Ruderfer DM. Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 Jun;27(6):1097-1104. doi: 10.1038/s41591-021-01356-z. Epub 2021 Jun 3.
PubMed 34083811
Study at a glance
From the registry record, last updated by the sponsor on 30 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"
- ClinicalTrials.gov ID
- NCT06744543
- Acronym / sponsor ID
- SIGHT / 241678
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Vanderbilt University Medical CenterUniversity, hospital or other
- Study start
- 12 Mar 2025 (actual)
- Primary completion
- 1 Jan 2027 (estimated)
- Study completion
- 1 Feb 2027 (estimated)
- First posted
- 20 Dec 2024 (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.
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
Study design
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- 1:1 allocation by predicted probability to either the intervention group, receiving a SIGHT-prompted provider message, or the control group, receiving standard care without the SIGHT-prompted message. The randomization process will be integrated into the routine clinical workflow, with SIGHT scores generated before regularly scheduled patient visits in pediatric primary care at VUMC.
| Arm | Type | Receives |
|---|---|---|
| Intervention | Experimental | Device: SIGHT Prompted Provider MessageSIGHT predictions will be generated prior to a scheduled encounter in one of the participating study clinics. Patients with a SIGHT probability above a predefined risk level (0.30 predicted risk based on validation and prior chart review by a genetic counselor, Morley et al, 2021 below) will prompt randomization to the standard care or SIGHT-guided intervention arm. For patients randomized to the SIGHT-guided intervention arm, the clinician responsible for care in that encounter (determined in the usual course of care) will receive a message for that patient and details as to the contributing clinical features that led to the high probability. The message will include a recommendation, but providers will have full discretion to offer genetic testing or refer to genetics providers. The management of screening will follow standard of care at VUMC. |
| Comparator | No intervention | –All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care. |
Who may qualify
- Ages
- 1 year to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (1 listed)
- All patients > 1 year old, < 20 years of age with a scheduled visit to the VUMC pediatric primary care.
Key exclusion criteria (1 listed)
- Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients > 20 years of age or < 1 year of age.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SIGHT Prompted Provider MessageAmong patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated. | Device | Intervention |
Primary outcome
Number of Diagnoses in the intervention arm compared to the control arm
Time frame: 2 years
Number of patients diagnosed via a Chromosomal Microarray.
4 secondary outcomes
Time to test
Time frame: 2 years
Abnormal CMA
Time frame: 2 years
Rate of genetic testing
Time frame: 2 years
Diagnosis via any test (molecular confirmation)
Time frame: 2 years
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 30 Sep 2026.
- Background: PubMed 34083811Morley TJ, Han L, Castro VM, Morra J, Perlis RH, Cox NJ, Bastarache L, Ruderfer DM. Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 Jun;27(6):1097-1104. doi: 10.1038/s41591-021-01356-z. Epub 2021 Jun 3.
- Individual participant dataSharing planned: No. Patients in this study will receive standard of care at Vanderbilt University Medical Center (VUMC) and will not be consented for research participation. As a result, no individual participant data (IPD) will be made available for sharing with other researchers.
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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.
Douglas Ruderfer, PhD principal investigator
Vanderbilt University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing SIGHT Prompted Provider Message in people with Genetic Disease and Pediatrics, run by Vanderbilt University Medical Center 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 1 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 30 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?
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?
Number of Diagnoses in the intervention arm compared to the control arm (time frame: 2 years). 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 NCT06744543, 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 30 Sep 2026.