IDH1/2 Mutational Analysis in AML Patients: Diagnosis and Follow-up

In a spanish series of AML patients it is intended to perform, at the moment of diagnosis, pyrosequencing of IDH1 and IDH2 genes. Taking into account the incidence of AML in the area, it is planed to study 100 patients per year.

Among the cases with IDH1/2 mutations, targeted deep sequencing (TDS) of a panel covering coding regions of 40 myeloid related genes will be applied. With TDS, pyrosequencing results will be validated at the same time that prognosis value of co-mutated genes could be studied. Furthermore, with TDS, molecular architecture of IDH1 and IDH2 mutated cases might be better understood.

Study Overview

• Status: Completed
• Conditions: Acute Myeloid Leukemia

• Study Type: Observational
• Enrollment (Actual): 354

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients >18 years old with de novo acute myeloid leukemia (AML).

Description

Inclusion Criteria:

• Patients >18 years old with de novo acute myeloid leukemia will be included. All patients will be treated according to clinical routine.

Exclusion Criteria:

• Patients not following the above criteria.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
IDH1/2 mutated patients; Patients harboring mutations in IDH1 or IDH2 genes
Patients without IDH1/2 mutations; Patients that don´t present any mutation in IDH1/2 genes

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence of IDH1/2 mutation	Detection of mutations in IDH1 and IDH2 genes	1 day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Detection of co-mutations	Screening of aditional mutations in those cases with IDH1/2 mutation	1 day

Collaborators and Investigators

• Sponsor: Josep Carreras Leukaemia Research Institute
• Collaborators: Celgene

Study record dates

Study Major Dates

• Study Start (Actual): May 23, 2016
• Primary Completion (Actual): December 27, 2019
• Study Completion (Actual): January 16, 2020

Study Registration Dates

• First Submitted: January 16, 2020
• First Submitted That Met QC Criteria: January 24, 2020
• First Posted (Actual): January 27, 2020

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 19, 2025
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Other Study ID Numbers: N/A-NI-AML-PI-007344

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No