VIGOR: Virtual Genome Center for Infant Health

NCT ID: NCT05205356

Last Updated: 2026-02-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

750 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-03-22

Study Completion Date

2027-03-01

Brief Summary

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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

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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.

Conditions

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Genetics Disease Genetics/Birth Defects Genetic Predisposition to Disease

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

* 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.
Minimum Eligible Age

0 Days

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Medical Center

OTHER

Sponsor Role collaborator

Baystate Medical Center

OTHER

Sponsor Role collaborator

UMass Memorial Health

OTHER

Sponsor Role collaborator

The Cooper Health System

OTHER

Sponsor Role collaborator

National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role collaborator

DHR Health Institute for Research and Development

OTHER

Sponsor Role collaborator

The Hospitals of Providence East Campus

UNKNOWN

Sponsor Role collaborator

The Hospitals of Providence Memorial Campus

UNKNOWN

Sponsor Role collaborator

Jackson Health System

OTHER

Sponsor Role collaborator

University of Texas

OTHER

Sponsor Role collaborator

Driscoll Children's Hospital

OTHER

Sponsor Role collaborator

University of South Alabama

OTHER

Sponsor Role collaborator

Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Timothy Yu

Associate Professor of Pediatrics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Timothy Yu, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

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USA Children's and Women's Hospital

Mobile, Alabama, United States

Site Status RECRUITING

Holtz Children's Hospital at Jackson Memorial Medical Center

Miami, Florida, United States

Site Status RECRUITING

Boston Medical Center

Boston, Massachusetts, United States

Site Status RECRUITING

Baystate Medical Center

Springfield, Massachusetts, United States

Site Status RECRUITING

UMass Memorial Hospital

Worcester, Massachusetts, United States

Site Status RECRUITING

Cooper University Hospital

Camden, New Jersey, United States

Site Status RECRUITING

Driscoll Children's Hospital Rio Grande Valley

Edinburg, Texas, United States

Site Status RECRUITING

The Women's Hospital at Renaissance

Edinburg, Texas, United States

Site Status RECRUITING

The Hospitals of Providence

El Paso, Texas, United States

Site Status RECRUITING

University of Texas Medical Branch

Galveston, Texas, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Timothy Yu, MD, PhD

Role: CONTACT

617-919-7499

Vanessa J Young, MS, BA, RN

Role: CONTACT

617-355-8330

Facility Contacts

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Ellen Dean, BSN, RN

Role: primary

251-415-1088

Pankaj Agrawal, MD, MMSC

Role: primary

617-919-2357

Bharati Sinha, MD

Role: primary

Robert Rothstein

Role: primary

413-794-2400

Lawrence Rhein, MD, MPH

Role: primary

508-334-6206

Anjana Bhami Shenoy

Role: backup

508-334-6090

Vineet Bhandari, MD, DM

Role: primary

856-342-2000 ext. 1006156

Faye Shapiro, MS, LCGC

Role: backup

856-541-6213

Dynio Honrubia, MD

Role: primary

956-802-8855

Dynio Honrubia, MD

Role: primary

956-802-8855

Dhruv Gupta, MD

Role: primary

313-896-8168

Jenifer Gehlsen, MD

Role: backup

Maria E Franco-Fuenmayor, MD

Role: primary

409-772-2815

References

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D'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.

Reference Type DERIVED
PMID: 38320840 (View on PubMed)

Other Identifiers

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1R01HG011798-01A1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

IRB-P00040496

Identifier Type: -

Identifier Source: org_study_id

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