North Carolina Newborn Exome Sequencing for Universal Screening (NC_NEXUS)
調査の概要
状態
詳細な説明
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)
研究の種類
入学 (実際)
段階
- 適用できない
連絡先と場所
研究場所
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North Carolina
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Chapel Hill、North Carolina、アメリカ、27599
- Unc Hospitals
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参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
説明
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.
研究計画
研究はどのように設計されていますか？
デザインの詳細
- 主な目的：診断
- 割り当て：ランダム化
- 介入モデル：並列代入
- マスキング：なし（オープンラベル）
武器と介入
参加者グループ / アーム |
介入・治療 |
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他の：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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他の：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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この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Parental Choices Following Decision Aid
時間枠：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
時間枠：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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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Parental Reaction Scores
時間枠：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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協力者と研究者
協力者
捜査官
- 主任研究者：Jonathan Berg, MD, PhD、University of North Carolina School of Medicine Department of Genetics
- 主任研究者：Cynthia M Powell, MD、University of North Carolina School of Medicine Department of Pediatrics
出版物と役立つリンク
研究記録日
主要日程の研究
研究開始
一次修了 (実際)
研究の完了 (実際)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (見積もり)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。