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Идёт набор NCT06081075

Newborn Genomics Programme

— Наблюдательное Genetic Disease Newborn Morbidity

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
В протоколе указаны: Genetic testing.
Кому может быть актуально
Состояния в реестре: Genetic Disease, Newborn Morbidity. Базовые параметры: 0 Hours — 2 лет · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
Новая Зеландия
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

Genomic methods can significantly contribute to all facets of precision medicine, from diagnosis to prevention, therapeutic intervention, and management of acute and chronic illnesses. DNA based methods are already having a considerable impact across healthcare in fields that include: public health, infectious disease monitoring, acute and chronic disease, pharmacogenomics, prenatal testing and diagnosis, and therapeutic development. In this proposal, investigators are focusing on the application of genomic methods in precision medicine - specifically on rapid whole-genome sequencing of parents and children (i.e. a trio) for the identification of diseases that have genetic components. Goals Primary goal: is to provide safe rapid whole genome sequencing to Neonatal Intensive Care Unit/Pediatric Intensive Care Unit patients. Secondary goals: 1) Although several groups globally are implementing rapid sequencing of rare disease, these are predominantly in the research space, with many unanswered questions regarding the best way to implement them into a national healthcare system. Each country and their healthcare systems are unique, and valuable knowledge will be gained by implementing this process within a New Zealand context. As part of this the study will measure the impact on the individuals and families. 2\) to expand the research team's understanding of non-coding disease-causing variants and methylation changes that contribute to severe disease in early life. Primary Aims 1. To incorporate long-read RNA sequencing data into the diagnostic rapid Whole Genome Sequencing pipeline to provide a direct measure of the functional outcome of the variants of clinical concern. 2. To measure the clinical utility of analysing non-coding variants in the diagnosis of critically ill children who do not have pathogenic, likely pathogenic, or variants of unknown significance for mendelian disorders. 3. To identify, in a real-world setting within the New Zealand health-care system, the clinical and economic effects of deploying rapid Whole Genome Sequencing-informed rapid precision medicine for critically ill children.

Вмешательства

  • Другое Genetic testing
    Rapid whole genome sequencing

Первичные конечные точки

  • To incorporate long-read RNA sequencing data into the diagnostic rapid Whole Genome Sequencing pipeline to provide a direct measure of the functional outcome of the variants of clinical concern [Срок оценки: June 2025]
  • To measure the clinical utility of analysing non-coding variants in the diagnosis of critically ill children who do not have pathogenic, likely pathogenic, or variants of unknown significance for mendelian disorders. [Срок оценки: June 2025]
  • To identify, in a real-world setting within the New Zealand health-care system, the clinical and economic effects of deploying rapid Whole Genome Sequencing-informed rapid precision medicine for critically ill children. [Срок оценки: June 2025]

Критерии участия

Критерии включения

  • Acutely ill inpatient
  • Admitted to NICU or PICU between April 2023 - March 2026
  • Within 1 week of hospitalization or within 1 week of development of abnormal response to standard therapy for an underlying condition
  • Suspected genetic condition, without a clear non-genetic aetiology

Критерии исключения

  • Patients whose clinical course is entirely explained by
  • Isolated prematurity
  • Isolated unconjugated hyperbilirubinemia
  • Infection or sepsis with expected response to therapy
  • A previously confirmed genetic diagnosis that explains the clinical condition -
  • Isolated transient neonatal tachypnoea
  • Meconium aspiration syndrome
  • Trauma
  • Inability to source blood and buccal samples for DNA extraction from at least the mother and child

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Новая Зеландия · 1 центр
  • Auckland City Hospital — Auckland

Публикации

  • Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM. Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand. NPJ Genom Med. 2024 Nov 8;9(1):57. doi: 10.1038/s41525-024-00445-5. PMID 39516456

Идентификаторы

NCT: NCT06081075 · LIG-2301

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗