- ICH GCP
- Registro de ensayos clínicos de EE. UU.
- Ensayo clínico NCT02826694
North Carolina Newborn Exome Sequencing for Universal Screening (NC_NEXUS)
Descripción general del estudio
Estado
Intervención / Tratamiento
Descripción detallada
The investigators will enroll and perform whole exome sequencing on two cohorts of patients. One cohort will consist of two hundred newborns with no known conditions whose parents will be recruited during the mother's pregnancy. The second cohort will include two hundred infants and children up to the age of five years with diagnosed conditions including conditions detected through standard newborn screening such as phenylketonuria and other inborn errors of metabolism, hearing loss and other rare conditions that may fit criteria for newborn screening in the future.
Parents will be introduced to the study by their clinician or a study recruiter. Those who agree to enroll in Phase I will review an online decision guide and be offered a study visit conducted by a genetic counselor to obtain informed consent for genomic sequencing of their child. Parents consenting to have their child's genome sequenced will be seen after the child's birth or at a convenient pre-arranged time and duplicate saliva samples will be collected from the children and one sample will be sent to the BioSpecimen Processing (BSP) Facility and to Dr. Jonathan Berg's laboratory for sequencing and the other sent to the Molecular Genetics Laboratory (MGL) for DNA extraction and storage until needed for clinical confirmation. Results will be returned for diagnostic (in the Diagnosed cohort) and medically actionable disorders of childhood (both cohorts). Two-thirds of parents who consent to sequencing will be randomly assigned to be eligible to request additional findings and use a supplement of the online decision aid. All results will be reported to parents by trained genetic professionals (genetic counselors and clinical geneticists)
Tipo de estudio
Inscripción (Actual)
Fase
- No aplica
Contactos y Ubicaciones
Ubicaciones de estudio
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North Carolina
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Chapel Hill, North Carolina, Estados Unidos, 27599
- UNC Hospitals
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Descripción
Inclusion Criteria:
- Uncomplicated pregnancy and healthy newborn
Exclusion Criteria:
- Abnormalities such as major malformation or chromosomal disorder detected prenatally or significant complications during pregnancy or at the time of delivery.
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Propósito principal: Diagnóstico
- Asignación: Aleatorizado
- Modelo Intervencionista: Asignación paralela
- Enmascaramiento: Ninguno (etiqueta abierta)
Armas e Intervenciones
Grupo de participantes/brazo |
Intervención / Tratamiento |
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Otro: Well infant, whole exome sequencing
Healthy infants and their parents enrolled in the study prenatally will participate.
After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.
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Whole exome sequencing will be performed in children with diagnosed conditions.
Investigators will analyze results that are associated with their condition.
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Otro: Diagnosed, whole exome sequencing
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.
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In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
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¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Parental Choices Following Decision Aid
Periodo de tiempo: average of 3-6 months
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Analysis of parents' decisions after they complete an on-line decision aid to see if they wish to participate in the study.
Options will be yes, no, or undecided.
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average of 3-6 months
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Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Periodo de tiempo: approximately 3-6 months after DNA sample obtained
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Investigators analyzed next generation sequencing (NGS) results in the diagnosed cohort to determine the ability of whole exome sequencing to detect pathogenic variants in genes related to phenotype determined by standard newborn screening (NBS).
The category of genes analyzed is termed the Next Generation Sequencing/Newborn Screening (NGS/NBS) category.
Healthy newborns with no known genetic conditions also had the NGS/NBS category of genes analyzed.
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approximately 3-6 months after DNA sample obtained
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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Parental Reaction Scores
Periodo de tiempo: Time 3 - 2 weeks after results visit and Time 4 - 3 months after results visit
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Test-related distress is assessed with an adapted version of the Multidimensional Impact of Cancer Risk Assessment (MICRA).
It asks participants to report how often in the past week they have experienced worries and distress related to their child's genomic sequencing procedure and test results, and the social and familial consequences of sequencing and the test results.
Possible responses are provided on the following scale: 0=Never, 1=Rarely, 3=Sometimes, and 5=Often.
Because it refers to respondents' experience of their child's sequencing and the test results they received, it is administered only in assessments that occurred after sequencing at Time 3 (2 weeks after results visit and Time 4 (3 months after results visit).
Comparisons are made between couples who could chose to receive additional information about their child's genome and a control group who were not eligible to receive additional information.
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Time 3 - 2 weeks after results visit and Time 4 - 3 months after results visit
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Colaboradores e Investigadores
Patrocinador
Colaboradores
Investigadores
- Investigador principal: Jonathan Berg, MD, PhD, University of North Carolina School of Medicine Department of Genetics
- Investigador principal: Cynthia M Powell, MD, University of North Carolina School of Medicine Department of Pediatrics
Publicaciones y enlaces útiles
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio
Finalización primaria (Actual)
Finalización del estudio (Actual)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Estimar)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- 13-2409
- 5U19HD077632 (Subvención/contrato del NIH de EE. UU.)
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Descripción del plan IPD
Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .