Clinical trial NCT05205356: VIGOR: Virtual Genome Center for Infant Health
Official title: VIGOR: Virtual Genome Center for Infant Health
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Genetics Disease
Genetics/Birth Defects
Genetic Predisposition to Disease
Keywords: Genetics
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: Boston Medical Center
name: Baystate Medical Center
name: UMass Memorial Health
name: The Cooper Health System
name: National Human Genome Research Institute (NHGRI)
name: DHR Health Institute for Research and Development
name: The Hospitals of Providence East Campus
name: The Hospitals of Providence Memorial Campus
name: Jackson Health System
name: University of Texas
name: USA Children's and Women's Hospital
First posted: 2022-01-25
Enrollment: 750
Sex: ALL
Minimum age (years): 0
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Implementation of VIGOR
timeFrame: 4 year
Secondary outcomes:
measure: Implementation of VIGOR
timeFrame: 4 year
measure: Implementation of VIGOR
timeFrame: 4 year
measure: Service Outcomes
timeFrame: 4 years
measure: Client Outcomes
timeFrame: 4 years
measure: Client Outcomes
timeFrame: 4 years
measure: Client Outcomes
timeFrame: 4 years
Other outcomes:
Locations:
city: Mobile
country: United States
facility: USA Children's and Women's Hospital
state: Alabama
city: Miami
country: United States
facility: Holtz Children's Hospital at Jackson Memorial Medical Center
state: Florida
city: Boston
country: United States
facility: Boston Medical Center
state: Massachusetts
city: Springfield
country: United States
facility: Baystate Medical Center
state: Massachusetts
city: Worcester
country: United States
facility: UMass Memorial Hospital
state: Massachusetts
city: Camden
country: United States
facility: Cooper University Hospital
state: New Jersey
city: Edinburg
country: United States
facility: The Women's Hospital at Renaissance
state: Texas
city: El Paso
country: United States
facility: The Hospitals of Providence
state: Texas
city: Galveston
country: United States
facility: University of Texas Medical Branch
state: Texas
Study officials:
affiliation: Boston Children's Hospital
name: Timothy Yu, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: