Genetics DiseaseNCT05205356
VIGOR: Virtual Genome Center for Infant Health
An observational study of Genetics Disease and Genetics/Birth Defects, run by Boston Children's Hospital at 10 sites in United States.
Trial summary
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. Read more about this study
- Who is it for?
- Ages 0 days to 99 years
- Conditions the study is for
- Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease
- How many people
- 631 participants
- Where
- 10 sitesUnited States
- Study dates
- 22 Mar 2022to 1 May 2027
- 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 0 days to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The VIGOR center will enroll and follow for 12 months 250 eligible newborns and their families within community NICUs in the US serving diverse populations. Among enrolled newborns, rapid genomic sequencing will be facilitated along with the creation and return of timely Clinical Interpretive Reports to families and providers. This study comprehensively examine implementation outcomes according to a well-established framework at the NICU, provider, and newborn/caregiver-level.
Who may be able to join
- Newborns presenting with probable genetic conditions inpatient on the NICU. These may include (but is not limited to) those with unexplained hypotonia, seizures, metabolic disorders, disorders of sex development, interstitial lung disease, immunodeficiency or multiple congenital anomalies.
- Babies must have at least one biologic parent available for consent and participation.
- The criteria for inclusion are 100% phenotype based and do not include any demographic parameters.
Who cannot join
- Presence of a likely nongenetic explanation for the phenotype (e.g., perinatal asphyxia explained by uterine rupture or placental pathology;
- Clinical features pathognomonic for a recognizable chromosomal abnormality, such as trisomy 21;
- Associations already known to have low genetic diagnostic yield, including VATER/VACTERL association and OEIS complex;
- Infants who die before enrollment;
- Known family history of genetic disease that is plausibly the cause of the infant's illness; - Those with a prenatal genetic diagnosis.
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
United States10 sites
Boston Medical Center
Boston, Massachusetts, 02118
Cooper University Hospital
Camden, New Jersey, 08103
Driscoll Children's Hospital Rio Grande Valley
Edinburg, Texas, 78539
The Women's Hospital at Renaissance
Edinburg, Texas, 78539
The Hospitals of Providence
El Paso, Texas, 79938
University of Texas Medical Branch
Galveston, Texas, 77555
Holtz Children's Hospital at Jackson Memorial Medical Center
Miami, Florida, 33136
USA Children's and Women's Hospital
Mobile, Alabama, 36604
Baystate Medical Center
Springfield, Massachusetts, 01199
UMass Memorial Hospital
Worcester, Massachusetts, 01605
About this study
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minority (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.
The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
Read the detailed description
Genomic medicine has rapidly advanced in the past decade enabling earlier diagnosis and personalized treatment. However, only a few highly specialized centers in the US have the resources to take advantage of these advances in patient care. This has created a large health equity gap whereby patients cared for in typical community settings, often low-income and/or representing racial/ethnic minorities, do not receive equitable medical care. Another barrier to the wider utilization of genomic medicine is the poor dissemination of knowledge among clinicians, especially in community settings. A wide gap exists in the implementation of genomic medicine from diagnosis to personalized therapies, a field experiencing huge advances but still subject to wide disparities in accessibility. This study aims to develop and test the implementation of a strategy to break down these barriers to genomic medicine. The target population is sick newborns admitted to the NICU that present with probable genetic conditions. This study proposes a novel center, VIrtual GenOme CenteR (VIGOR). VIGOR will be a center that can remotely support clinicians and families working in community NICUs.
This study will provide rigorous evaluation of implementing a virtual genome center at community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minorities (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.
The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
- Keywords
- Genetics
- Medical subject headings
- Genetic Diseases, Inborn, Congenital Abnormalities, Genetic Predisposition to Disease
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 |
|---|---|---|
| Neonates and Parents/Caregivers | Providers caring for newborns that meet eligibility criteria will approach parents to assess interest. The VIGOR study staff will remotely contact parents to complete consent for genomic sequencing (GS). We will also invite 1 additional primary caregiver (e.g. father, co-mother etc.) to participate even if that caregiver is not biologically related to the child. We will administer surveys at baseline enrollment to assess sociodemographics, obstetrical history, family genetic history \& mental health; within 1 week of disclosure of findings to assess satisfaction \& mental health; \& at 3 \& 6 months to further assess mental health \& newborn clinical outcomes. We will approach a subset of the families for qualitative interviews to assess satisfaction with VIGOR \& receipt of GS results with their physician in more detail. | |
| Clinicians | Following focus groups at each of the participating sites to assess the feasibility \& needs of each site, the care teams will receive basic training in genomics and how to disclose GS results with VIGOR support. Study orientation will be completed as part of the training. Focus groups will be conducted within 1 year post implementation \& again between year 4 \& the completion of the study, to assess feasibility \& appropriateness of VIGOR. We will administer brief surveys to the care providers before \& after receipt of genomic education to assess their baseline knowledge \& comfort with genomic medicine in newborns. Surveys will be repeated within a week of disclosure to families regarding feedback on the process \& satisfaction with VIGOR. After approximately 3-5 disclosure events, study staff will approach the clinical care team members to participate in a qualitative interview to assess their perspectives in more depth. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Implementation of VIGOR
Penetration of VIGOR measured by percentage of eligible participants who were enrolled, tested, providers received CIR and completed a disclosure session.
Measured: 4 year
Secondary outcomes (6)
Implementation of VIGOR
Appropriateness of VIGOR measured at the provider level by conducting focus groups/interviews.
Measured: 4 year
Implementation of VIGOR
Feasibility of VIGOR measured at the provider level by conducting focus groups/interviews.
Measured: 4 year
Service Outcomes
Equity in penetration of VIGOR use by race/ethnicity, insurance status and primary language measured at the participant level by conducting chart reviews and surveys.
Measured: 4 years
Client Outcomes
Function measured at the infant/caregiver and provider level by conducting surveys, chart reviews and focus groups/interviews.
Measured: 4 years
Client Outcomes
Symptomatology measured at the infant/caregiver level by conducting surveys, and interviews.
Measured: 4 years
Client Outcomes
Satisfaction measured at the infant/caregiver and provider level by conducting surveys, chart reviews and focus groups/interviews.
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jan 2022
- Study start22 Mar 2022
- Primary completion31 Dec 2026 (estimated)
- Study completion1 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Genetics DiseaseStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe 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
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 631 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Medical Center, Baystate Medical Center, UMass Memorial Health, Cooper Norcross Health, National Human Genome Research Institute (NHGRI), DHR Health Institute for Research and Development, The Hospitals of Providence East Campus, The Hospitals of Providence Memorial Campus, Jackson Health System, University of Texas, Driscoll Children's Hospital, University of South Alabama
- Responsible party
- Principal investigator, Timothy Yu, Boston Children's Hospital
- Investigators
- Timothy Yu, MD, PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05205356
- Sponsor's protocol ID
- IRB-P00040496
- Other IDs
- 1R01HG011798-01A1
- Status last verified
- Jul 2026
- First submitted
- 5 Jan 2022
- Last updated
- 10 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Hills S, Werner M, Douglas J, D'Gama AM, Wojcik MH, Young V; VIGOR Network; Yu TW, Agrawal PB, Parker MG. Understanding perspectives of safety-net NICU neonatologists disclosing genomic sequencing results: a mixed methods approach. J Perinatol. 2026 May 5. doi: 10.1038/s41372-026-02655-4. Online ahead of print.
PubMed 42086727D'Gama AM, Hills S, Douglas J, Young V, Genetti CA, Wojcik MH, Feldman HA, Yu TW, G Parker M, Agrawal PB; VIGOR Network. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024 Feb 6;14(2):e080529. doi: 10.1136/bmjopen-2023-080529.
PubMed 38320840
Study at a glance
From the registry record, last updated by the sponsor on 10 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- VIGOR: Virtual Genome Center for Infant Health
- ClinicalTrials.gov ID
- NCT05205356
- Acronym / sponsor ID
- IRB-P00040496
- Keywords
- Genetics
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 631 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- Boston Medical Center, Baystate Medical Center, UMass Memorial Health, Cooper Norcross Health, National Human Genome Research Institute (NHGRI), DHR Health Institute for Research and Development, The Hospitals of Providence East Campus, The Hospitals of Providence Memorial Campus, Jackson Health System, University of Texas, Driscoll Children's Hospital, University of South Alabama
- Study start
- 22 Mar 2022 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 1 May 2027 (estimated)
- First posted
- 25 Jan 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.
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minority (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.
The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
Detailed description
Genomic medicine has rapidly advanced in the past decade enabling earlier diagnosis and personalized treatment. However, only a few highly specialized centers in the US have the resources to take advantage of these advances in patient care. This has created a large health equity gap whereby patients cared for in typical community settings, often low-income and/or representing racial/ethnic minorities, do not receive equitable medical care. Another barrier to the wider utilization of genomic medicine is the poor dissemination of knowledge among clinicians, especially in community settings. A wide gap exists in the implementation of genomic medicine from diagnosis to personalized therapies, a field experiencing huge advances but still subject to wide disparities in accessibility. This study aims to develop and test the implementation of a strategy to break down these barriers to genomic medicine. The target population is sick newborns admitted to the NICU that present with probable genetic conditions. This study proposes a novel center, VIrtual GenOme CenteR (VIGOR). VIGOR will be a center that can remotely support clinicians and families working in community NICUs.
This study will provide rigorous evaluation of implementing a virtual genome center at community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minorities (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.
The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Neonates and Parents/Caregivers | – | –Providers caring for newborns that meet eligibility criteria will approach parents to assess interest. The VIGOR study staff will remotely contact parents to complete consent for genomic sequencing (GS). We will also invite 1 additional primary caregiver (e.g. father, co-mother etc.) to participate even if that caregiver is not biologically related to the child. We will administer surveys at baseline enrollment to assess sociodemographics, obstetrical history, family genetic history \& mental health; within 1 week of disclosure of findings to assess satisfaction \& mental health; \& at 3 \& 6 months to further assess mental health \& newborn clinical outcomes. We will approach a subset of the families for qualitative interviews to assess satisfaction with VIGOR \& receipt of GS results with their physician in more detail. |
| Clinicians | – | –Following focus groups at each of the participating sites to assess the feasibility \& needs of each site, the care teams will receive basic training in genomics and how to disclose GS results with VIGOR support. Study orientation will be completed as part of the training. Focus groups will be conducted within 1 year post implementation \& again between year 4 \& the completion of the study, to assess feasibility \& appropriateness of VIGOR. We will administer brief surveys to the care providers before \& after receipt of genomic education to assess their baseline knowledge \& comfort with genomic medicine in newborns. Surveys will be repeated within a week of disclosure to families regarding feedback on the process \& satisfaction with VIGOR. After approximately 3-5 disclosure events, study staff will approach the clinical care team members to participate in a qualitative interview to assess their perspectives in more depth. |
Who may qualify
- Ages
- 0 days to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The VIGOR center will enroll and follow for 12 months 250 eligible newborns and their families within community NICUs in the US serving diverse populations. Among enrolled newborns, rapid genomic sequencing will be facilitated along with the creation and return of timely Clinical Interpretive Reports to families and providers. This study comprehensively examine implementation outcomes according to a well-established framework at the NICU, provider, and newborn/caregiver-level.
Key inclusion criteria (3 listed)
- Newborns presenting with probable genetic conditions inpatient on the NICU. These may include (but is not limited to) those with unexplained hypotonia, seizures, metabolic disorders, disorders of sex development, interstitial lung disease, immunodeficiency or multiple congenital anomalies.
- Babies must have at least one biologic parent available for consent and participation.
- The criteria for inclusion are 100% phenotype based and do not include any demographic parameters.
Key exclusion criteria (5 listed)
- Presence of a likely nongenetic explanation for the phenotype (e.g., perinatal asphyxia explained by uterine rupture or placental pathology;
- Clinical features pathognomonic for a recognizable chromosomal abnormality, such as trisomy 21;
- Associations already known to have low genetic diagnostic yield, including VATER/VACTERL association and OEIS complex;
- Infants who die before enrollment;
- Known family history of genetic disease that is plausibly the cause of the infant's illness; - Those with a prenatal genetic diagnosis.
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
Implementation of VIGOR
Time frame: 4 year
Penetration of VIGOR measured by percentage of eligible participants who were enrolled, tested, providers received CIR and completed a disclosure session.
6 secondary outcomes
Implementation of VIGOR
Time frame: 4 year
Implementation of VIGOR
Time frame: 4 year
Service Outcomes
Time frame: 4 years
Client Outcomes
Time frame: 4 years
Client Outcomes
Time frame: 4 years
Client Outcomes
Time frame: 4 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 10 Jul 2026.
- Derived from this study: PubMed 42086727Hills S, Werner M, Douglas J, D'Gama AM, Wojcik MH, Young V; VIGOR Network; Yu TW, Agrawal PB, Parker MG. Understanding perspectives of safety-net NICU neonatologists disclosing genomic sequencing results: a mixed methods approach. J Perinatol. 2026 May 5. doi: 10.1038/s41372-026-02655-4. Online ahead of print.
- Derived from this study: PubMed 38320840D'Gama AM, Hills S, Douglas J, Young V, Genetti CA, Wojcik MH, Feldman HA, Yu TW, G Parker M, Agrawal PB; VIGOR Network. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024 Feb 6;14(2):e080529. doi: 10.1136/bmjopen-2023-080529.
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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.
Timothy Yu, MD, PhD principal investigator
Boston Children's Hospital
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetics Disease and Genetics/Birth Defects, run by Boston Children's Hospital at 10 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 3 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: under way, not looking for participants, as of the sponsor's last update on 10 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 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?
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?
Implementation of VIGOR (time frame: 4 year). 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 NCT05205356, which also lists 2 linked publications.
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 10 Jul 2026.