Genetisk studie for å bestemme årsaken til fødselsdefekter hos nyfødte i Texas (MAGNET)
Magnet: Gjør genomikk tilgjengelig for nyfødte i Texas
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.
Studieoversikt
Status
Forhold
Intervensjon / Behandling
Detaljert beskrivelse
The study will use advanced testing such as WGS and RNA sequencing to look for possible diagnoses in infants. Only newborns with an unknown genetic diagnosis and admitted to a NICU in select Texas hospitals will be included. The researchers have executed broad reliance agreements with the participating NICUs in the study. Baylor IRB will serve as the IRB of record for all participating sites. All referrals will be received through Consultagene (www.consultagene.org).
Baylor College of Medicine (BCM) will conduct virtual genetic evaluations using video visits, with help from the local hospital team. Photos and medical records will be reviewed, and blood or buccal swabs will be collected from the infants and parents. Test results will be returned in about a week, and researchers will provide genetic counseling to families through another virtual visit. If needed, additional testing will be done. Families will be connected to support groups, treatment options, and clinical trials if available.
To understand the impact of the study, families will be asked to complete two short surveys; one at the beginning and one after they receive results. Doctors who use Consultagene will also be surveyed and interviewed to learn about their experience and gather feedback for improving the virtual tool.
All data will be kept private and secure. DNA samples collected will be stored at BCM for future research, but without any identifying information. Samples may also be shared with other researchers studying similar health conditions, but only under strict guidelines.
Studietype
Registrering (Antatt)
Fase
- Ikke aktuelt
Kontakter og plasseringer
Studiekontakt
- Navn: Seema R Lalani, MD
- Telefonnummer: 281-224-0600
- E-post: seemal@bcm.edu
Studer Kontakt Backup
- Navn: Stacey Pereira, PhD
- E-post: spereira@bcm.edu
Studiesteder
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Texas
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Houston, Texas, Forente stater, 77030
- Rekruttering
- Baylor College of Medicine
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Ta kontakt med:
- Seema Lalani, MD
- Telefonnummer: 281-224-0600
- E-post: seemal@bcm.edu
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-
Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
Tar imot friske frivillige
Kjønn som er kvalifisert for studier
Beskrivelse
Inclusion Criteria:
- Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders.
Exclusion Criteria:
- (1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip/palate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.
Studieplan
Hvordan er studiet utformet?
Designdetaljer
- Primært formål: Diagnostisk
- Tildeling: N/A
- Intervensjonsmodell: Enkeltgruppeoppdrag
- Masking: Ingen (Open Label)
Våpen og intervensjoner
Deltakergruppe / Arm |
Intervensjon / Behandling |
|---|---|
|
Eksperimentell: MAGNET study patients
Patients receiving rapid whole genome sequencing |
All consented patients will receive a virtual genetic evaluation and rapid whole genome sequencing |
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Effectiveness of Consultagene
Tidsramme: From enrollment to the end of treatment-4 years
|
The primary outcome will be effectiveness of Consultagene, defined as difference in diagnostic yield compared to usual care. |
From enrollment to the end of treatment-4 years
|
Samarbeidspartnere og etterforskere
Sponsor
Samarbeidspartnere
Etterforskere
- Hovedetterforsker: Brendan Lee, MD, PhD, Baylor College of Medicine
Publikasjoner og nyttige lenker
Studierekorddatoer
Studer hoveddatoer
Studiestart (Faktiske)
Primær fullføring (Antatt)
Studiet fullført (Antatt)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Ytterligere relevante MeSH-vilkår
Andre studie-ID-numre
- H-56296
- 1R01HG013428-01A1 (U.S. NIH-stipend/kontrakt)
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
IPD-delingstidsramme
Unending (Beginning 1 year after publication with no end date)
IPD-deling Støtteinformasjonstype
- STUDY_PROTOCOL
- ICF
Legemiddel- og utstyrsinformasjon, studiedokumenter
Studerer et amerikansk FDA-regulert medikamentprodukt
Studerer et amerikansk FDA-regulert enhetsprodukt
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