Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
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: whole genome and transcriptome sequencing.
- Кому может быть актуально
- Состояния в реестре: Inherited BMF Syndrome, Inherited Platelet Disorder, Hematologic Diseases. Базовые параметры: от 3 мес. · 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
- Австралия
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
Обзор
This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.
Подробное описание
IBMFS-RD are a heterogeneous group of rare diseases resulting in significant morbidity and early mortality. These syndromes are individually and collectively rare (affecting \<1 per 10,000 people) and a significant proportion are unexplained by mutations in known genes. Whilst rare, these familial conditions are also likely underdiagnosed due to their relatively recent description and also due to lack of accessible genomic testing.
For patients with clinically suspected IBMFS-RD, receiving a genomic diagnosis is critical to:
* Establish a precise and reliable diagnosis (including distinguishing a monogenic aetiology from more common acquired or autoimmune causes of bone marrow failure which have dramatically different treatments (e.g. immunosuppression) * Inform prognosis, clinical course, optimal treatment choice and screening for non-haematological organ dysfunction * Optimise allogeneic haematopoietic stem cell transplant (HSCT) chemotherapy conditioning and minimise regimen-related toxicity * Inform risk-benefit analysis of performing allogeneic HSCT to potentially prioritise other therapies (including novel gene therapy strategies) * Avoiding the catastrophe of HSCT donation from occult genetically affected relatives * Provide counselling (including stem cell donor counselling) and offer genetic testing for potentially affected family members * Provide accurate reproductive counselling and reproductive options to affected individuals
This study aims to provide WGS and WTS to a national cohort of patients with IBMFS-RD to determine diagnostic rate, health economic impact, health implementation challenges and other exploratory endpoints.
Вмешательства
- Диагностический тест whole genome and transcriptome sequencing
To perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD
Первичные конечные точки
- Definitive IBMFS-RD diagnosis [Срок оценки: 3-12 months post baseline]
Вторичные конечные точки (5)
- Develop a whole transcriptome gene expression classifier [Срок оценки: 4 years]
- Cost-effectiveness of genomic testing in patients with suspected IBMFS-RD [Срок оценки: 4 years]
- Budget-impact of genomic testing in patients with suspected IBMFS-RD [Срок оценки: 4 years]
- Health implementation analyses regarding the acceptability of genomic testing [Срок оценки: 4 years]
- Populate Registry [Срок оценки: 4 years]
Критерии участия
Критерии включения
- age ≥ 3 months
- able to give informed consent (or parent/guardian able to give informed consent)
- a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team
Критерии исключения
- A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team
- Existing definitive genomic diagnosis for patient's haematological phenotype
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Другое
Центры проведения
Австралия · 1 центр
- Peter MacCallum Cancer Centre — Melbourne
Публикации
- Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Trainer A, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D. Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes. Haematologica. 2021 Jan PMID 32054657
Идентификаторы
NCT: NCT05196789 · 77923