Ignite Creation Date:
2025-12-24 @ 11:44 PM
Ignite Modification Date:
2026-01-04 @ 11:55 PM
Study NCT ID:
NCT03026751
Status:
UNKNOWN
Last Update Posted:
2017-08-28
First Post:
2017-01-18
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Sponsor:
Royal Marsden NHS Foundation Trust
Organization:
Study Overview
Official Title:
Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Status:
UNKNOWN
Status Verified Date:
2017-08
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
10% of the cases referred to the specialist diagnostic haemato-pathology service at RMH are for cytopenias.
The hypothesis to be tested is that a proportion of patients with idiopathic cytopenias have mutations in myelodysplasic syndrome (MDS)-associated genes. The investigators will sequence a panel of known MDS-associated genes in patient material (bone marrow and blood) that is sent routinely to the diagnostic service where conventional techniques have failed to establish a clear diagnosis. 200 patients with idiopathic cytopenia will be followed up to determine their survival, blood counts and development of acute leukaemia and other haematological malignancies. The clinical outcomes will be correlated with any mutations detected.
The hypothesis to be tested is that a proportion of patients with idiopathic cytopenias have mutations in myelodysplasic syndrome (MDS)-associated genes. The investigators will sequence a panel of known MDS-associated genes in patient material (bone marrow and blood) that is sent routinely to the diagnostic service where conventional techniques have failed to establish a clear diagnosis. 200 patients with idiopathic cytopenia will be followed up to determine their survival, blood counts and development of acute leukaemia and other haematological malignancies. The clinical outcomes will be correlated with any mutations detected.
Detailed Description:
Patients with cytopenias will be identified by their local District General Consultant haematologist and consent obtained. A bone marrow sample will be sent to RMH as per usual diagnostic pathway.
Once received at the RMH, an aliquot will be frozen down for sequencing by the Molecular Pathology lab. Only those cases of cytopenia without a specific diagnosis will be the focus of this study.
Results will be fed back to referring consultants with caveats regarding significance.
Patients will undergo telephone follow up and data will also be provided by local consultants.
The investigators will look at overall survival, development of haematological malignancies and full blood count. This will occur annually.
Once received at the RMH, an aliquot will be frozen down for sequencing by the Molecular Pathology lab. Only those cases of cytopenia without a specific diagnosis will be the focus of this study.
Results will be fed back to referring consultants with caveats regarding significance.
Patients will undergo telephone follow up and data will also be provided by local consultants.
The investigators will look at overall survival, development of haematological malignancies and full blood count. This will occur annually.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: