VIGOR: Virtual Genome Center for Infant Health

Genetic Predisposition to Disease Clinical Trial

Official title:

VIGOR: Virtual Genome Center for Infant Health

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05205356
• Other study ID #: IRB-P00040496
• Secondary ID: 1R01HG011798-01A
• Status: Recruiting
• Start date: March 22, 2022
• Est. completion date: March 1, 2027

Study information

• Verified date: August 2023
• Source: Boston Children's Hospital
• Contact: Timothy Yu, MD, PhD
• Phone: 617-919-7499
• Email: timothy.yu[@]childrens.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 750
• Est. completion date: March 1, 2027
• Est. primary completion date: November 30, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Days to 99 Years

Eligibility

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.

Related Conditions & MeSH terms

• Congenital Abnormalities
• Genetic Predisposition to Disease
• Genetics Disease

Locations

Country	Name	City	State
United States	Boston Medical Center	Boston	Massachusetts
United States	Cooper University Hospital	Camden	New Jersey
United States	The Women's Hospital at Renaissance	Edinburg	Texas
United States	The Hospitals of Providence	El Paso	Texas
United States	Holtz Children's Hospital at Jackson Memorial Medical Center	Miami	Florida
United States	Baystate Medical Center	Springfield	Massachusetts
United States	UMass Memorial Hospital	Worcester	Massachusetts

Sponsors (10)

Lead Sponsor	Collaborator
Boston Children's Hospital	Baystate Medical Center, Boston Medical Center, DHR Health Institute for Research and Development, Jackson Health System, National Human Genome Research Institute (NHGRI), The Cooper Health System, The Hospitals of Providence East Campus, The Hospitals of Providence Memorial Campus, UMASS Memorial Medical Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Implementation of VIGOR	Penetration of VIGOR measured by percentage of eligible participants who were enrolled, tested, providers received CIR and completed a disclosure session.	4 year
Secondary	Implementation of VIGOR	Appropriateness of VIGOR measured at the provider level by conducting focus groups/interviews.	4 year
Secondary	Implementation of VIGOR	Feasibility of VIGOR measured at the provider level by conducting focus groups/interviews.	4 year
Secondary	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.	4 years
Secondary	Client Outcomes	Function measured at the infant/caregiver and provider level by conducting surveys, chart reviews and focus groups/interviews.	4 years
Secondary	Client Outcomes	Symptomatology measured at the infant/caregiver level by conducting surveys, and interviews.	4 years
Secondary	Client Outcomes	Satisfaction measured at the infant/caregiver and provider level by conducting surveys, chart reviews and focus groups/interviews.	4 years