IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients
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|ClinicalTrials.gov Identifier: NCT03204838|
Recruitment Status : Recruiting
First Posted : July 2, 2017
Last Update Posted : July 2, 2017
This leukemia is characterized by a poor prognosis for most patients, as they have a high relapse rate despite aggressive treatment with chemotherapy agents and allogeneic bone marrow transplantation. It has been proposed that relapse can be attributed to a leukemic cells population with quiescence properties that are resistant to chemotherapy, known as leukemic stem cells (LSCs). Clinical trials shown a major LSCs percentage than diagnosis correlated with worst prognosis or minimal residual disease with AML.
AML is most common in adults and represents about 40% of all leukemia types in American Continent. In Mexican patients with AML age median is 32 years, lower than other international series. Genomic and functional studies have identified two classes of mutations, which cooperate during AML development.
Somatic mutations have been identified recently that codify for isocitrate dehydrogenase (IDH). These genes codify key metabolic enzymes, which convert isocitrate into α-ketoglutarate (α-KG).15-16From which IDH1 and IDH2 genes presenta high frequency of mutations in AML and other types of tumors. IDH mutations affect mainly active site residues (for example, IDH1 R132, IDH2 R140 or IDH2 R172), resulting in the normal enzymatic function loss abnormally converting α-KG to 2-hydroxiglutarate (2-HG).
"Oncometabolyte" 2-HG may competitively inhibit multiple α-KG depending dioxygenases, including key epigenetic regulators as histones demethylases and TET proteins. Consequently, IDH mutations are associated with chromatin alterations including global alteration of histones and NDA methylation. This is the reason of the need to identify such mutations of genes (IDH1/IDH2) in patients with SMD and AML entering Hematology service of the Hospital General de Mexico from 2017 to 2019, and determine clinical impact in prognosis and monitoring the response to therapy, as well as prognosis and survival.
|Condition or disease||Intervention/treatment|
|Acute Myeloid Leukemia (AML)||Genetic: IDH mutation test performed at diagnosis|
Show Detailed Description
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||100 participants|
|Target Follow-Up Duration:||2 Years|
|Official Title:||STUDY TITLE IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients and Myelodysplasticsyndromes, Clinical Response to Treatment|
|Estimated Study Start Date :||July 10, 2017|
|Estimated Primary Completion Date :||December 31, 2019|
|Estimated Study Completion Date :||May 5, 2020|
Adult AML patients with the IDH mutation test performed at diagnosis.
Genetic: IDH mutation test performed at diagnosis
Observation of the test result
- Identify the mutation frequency of IDH1/IDH2 genes in patients with AML entering Hematology service of the HGM and clinical impact in treatment respons [ Time Frame: At two years from study entry ]Number of patients with the IDH mutation in AML at initial diagnosis
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03204838
|Contact: Juan J Collazo Jaloma, phD||5527892000 ext firstname.lastname@example.org|
|Contact: Christian C Ramos Peñafiel, phD||5527892000 ext email@example.com|
|Ciudad de Mexico||Recruiting|
|Mexico City, Mexico, 06720|
|Contact: ADOLFO MARTINEZ TOVAR, phD 5527892000 ext 1609 firstname.lastname@example.org|
|Contact: ADOLFO SERVICION DE BIOLOGIA MOLECULAR, phD 5527892000 ext 1609 email@example.com|
|Principal Investigator:||ADOLFO A Martinez Tovar, phD||Hospital General de Mexico|