Trial Outcomes & Findings for Matched Targeted Therapy For High-Risk Leukemias and Myelodysplastic Syndrome (NCT NCT02670525)

NCT ID: NCT02670525

Last Updated: 2026-01-09

Results Overview

An actionable alteration was defined as a cancer-associated genomic event for which there was a targeted drug available. Actionable genetic alterations were identified by a combination of standard-of-care cytogenetics/fluorescence in situ hybridization (FISH) and sequencing performed as part of the study. This study is considered feasible if at least 13% of participants analyzed have profile data and identifiable actionable alterations. A 90% exact binomial confidence interval is presented for the rate of patients with actionable alterations to compare the observed rate against 13%.

Recruitment status

ACTIVE_NOT_RECRUITING

Study phase

NA

Target enrollment

338 participants

Primary outcome timeframe

Actionable alteration was identified based on a combination of fluorescence in situ hybridization (FISH)/cytogenetics and sequencing. Average time to full results was 2 weeks.

Results posted on

2026-01-09

Participant Flow

Patients enrolled from August 17, 2016 to May 4, 2022.

Participant milestones

Participant milestones
Measure
Relapsed/Refractory Leukemia
Cohort 1: Relapsed/refractory leukemia * Acute lymphoblastic leukemia (ALL), first or greater relapse * Acute myeloid leukemia (AML), first or greater relapse * Leukemia refractory to induction chemotherapy * Other recurrent leukemia * Myelodysplastic syndrome (MDS), first or greater relapse, or refractory to initial therapy
New Diagnosis
Cohort 2: New diagnosis * Acute myeloid leukemia (AML), new diagnosis (excluding acute promyelocytic leukemia (APL)) * New diagnosis infant mixed-lineage leukemia (MLL)-rearranged ALL or low hypodiploid (\<40 chromosomes) ALL * Rare leukemia- e.g., juvenile myelomonocytic leukemia (JMML), leukemia of ambiguous lineage * Secondary leukemia * Myelodysplastic syndrome (MDS) not eligible for stem cell transplant
Overall Study
STARTED
236
102
Overall Study
Matched targeted therapy (MTT) data available
157
74
Overall Study
Evaluable for primary endpoint
101
0
Overall Study
COMPLETED
14
9
Overall Study
NOT COMPLETED
222
93

Reasons for withdrawal

Reasons for withdrawal
Measure
Relapsed/Refractory Leukemia
Cohort 1: Relapsed/refractory leukemia * Acute lymphoblastic leukemia (ALL), first or greater relapse * Acute myeloid leukemia (AML), first or greater relapse * Leukemia refractory to induction chemotherapy * Other recurrent leukemia * Myelodysplastic syndrome (MDS), first or greater relapse, or refractory to initial therapy
New Diagnosis
Cohort 2: New diagnosis * Acute myeloid leukemia (AML), new diagnosis (excluding acute promyelocytic leukemia (APL)) * New diagnosis infant mixed-lineage leukemia (MLL)-rearranged ALL or low hypodiploid (\<40 chromosomes) ALL * Rare leukemia- e.g., juvenile myelomonocytic leukemia (JMML), leukemia of ambiguous lineage * Secondary leukemia * Myelodysplastic syndrome (MDS) not eligible for stem cell transplant
Overall Study
Death
94
14
Overall Study
Lost to Follow-up
4
1
Overall Study
Subject withdrew consent
1
0
Overall Study
Unknown, data entry delayed
123
78

Baseline Characteristics

Matched Targeted Therapy For High-Risk Leukemias and Myelodysplastic Syndrome

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Relapsed/Refractory Leukemia
n=236 Participants
Cohort 1: Relapsed/refractory leukemia * Acute lymphoblastic leukemia (ALL), first or greater relapse * Acute myeloid leukemia (AML), first or greater relapse * Leukemia refractory to induction chemotherapy * Other recurrent leukemia * Myelodysplastic syndrome (MDS), first or greater relapse, or refractory to initial therapy After the screening procedures confirms patient eligibility: * Leukemia Profiling will be performed * Identifying an actionable genomic alteration and making a matched targeted therapy treatment recommendation. Leukemia Profiling: Genetic profiling of leukemia cells will be performed and analyzed by an expert panel. Matched targeted therapy recommendation based on profiling results will be made if available. The recommendation, if available, will be communicated to the primary oncologist.
New Diagnosis
n=102 Participants
Cohort 2: New diagnosis * Acute myeloid leukemia (AML), new diagnosis (excluding acute promyelocytic leukemia (APL)) * New diagnosis infant mixed-lineage leukemia (MLL)-rearranged ALL or low hypodiploid (\<40 chromosomes) ALL * Rare leukemia- e.g., juvenile myelomonocytic leukemia (JMML), leukemia of ambiguous lineage * Secondary leukemia * Myelodysplastic syndrome (MDS) not eligible for stem cell transplant After the screening procedures confirms eligibility: * Leukemia Profiling will be performed * Identifying an actionable genomic alteration and making a matched targeted therapy treatment recommendation. Leukemia Profiling: Genetic profiling of leukemia cells will be performed and analyzed by an expert panel. Matched targeted therapy recommendation based on profiling results will be made if available. The recommendation, if available, will be communicated to the primary oncologist.
Total
n=338 Participants
Total of all reporting groups
Age, Continuous
11.3 years
n=8 Participants
10.2 years
n=7 Participants
11.1 years
n=15 Participants
Age, Customized
Age (years) at sample · <1 years
7 Participants
n=8 Participants
10 Participants
n=7 Participants
17 Participants
n=15 Participants
Age, Customized
Age (years) at sample · 1-9 years
91 Participants
n=8 Participants
40 Participants
n=7 Participants
131 Participants
n=15 Participants
Age, Customized
Age (years) at sample · 10-17 years
94 Participants
n=8 Participants
33 Participants
n=7 Participants
127 Participants
n=15 Participants
Age, Customized
Age (years) at sample · >=18 years
44 Participants
n=8 Participants
19 Participants
n=7 Participants
63 Participants
n=15 Participants
Sex: Female, Male
Female
113 Participants
n=8 Participants
51 Participants
n=7 Participants
164 Participants
n=15 Participants
Sex: Female, Male
Male
123 Participants
n=8 Participants
51 Participants
n=7 Participants
174 Participants
n=15 Participants
Ethnicity (NIH/OMB)
Hispanic or Latino
43 Participants
n=8 Participants
16 Participants
n=7 Participants
59 Participants
n=15 Participants
Ethnicity (NIH/OMB)
Not Hispanic or Latino
144 Participants
n=8 Participants
75 Participants
n=7 Participants
219 Participants
n=15 Participants
Ethnicity (NIH/OMB)
Unknown or Not Reported
49 Participants
n=8 Participants
11 Participants
n=7 Participants
60 Participants
n=15 Participants
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=8 Participants
0 Participants
n=7 Participants
0 Participants
n=15 Participants
Race (NIH/OMB)
Asian
15 Participants
n=8 Participants
9 Participants
n=7 Participants
24 Participants
n=15 Participants
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=8 Participants
0 Participants
n=7 Participants
0 Participants
n=15 Participants
Race (NIH/OMB)
Black or African American
19 Participants
n=8 Participants
14 Participants
n=7 Participants
33 Participants
n=15 Participants
Race (NIH/OMB)
White
127 Participants
n=8 Participants
60 Participants
n=7 Participants
187 Participants
n=15 Participants
Race (NIH/OMB)
More than one race
24 Participants
n=8 Participants
15 Participants
n=7 Participants
39 Participants
n=15 Participants
Race (NIH/OMB)
Unknown or Not Reported
51 Participants
n=8 Participants
4 Participants
n=7 Participants
55 Participants
n=15 Participants
Disease
AML
89 Participants
n=8 Participants
70 Participants
n=7 Participants
159 Participants
n=15 Participants
Disease
MDS
4 Participants
n=8 Participants
2 Participants
n=7 Participants
6 Participants
n=15 Participants
Disease
JMML
2 Participants
n=8 Participants
2 Participants
n=7 Participants
4 Participants
n=15 Participants
Disease
B-cell ALL
111 Participants
n=8 Participants
1 Participants
n=7 Participants
112 Participants
n=15 Participants
Disease
T-cell ALL
14 Participants
n=8 Participants
2 Participants
n=7 Participants
16 Participants
n=15 Participants
Disease
Infant MLL rearranged ALL
2 Participants
n=8 Participants
4 Participants
n=7 Participants
6 Participants
n=15 Participants
Disease
Leukemia of ambiguous lineage
8 Participants
n=8 Participants
8 Participants
n=7 Participants
16 Participants
n=15 Participants
Disease
Other rare leukemia
2 Participants
n=8 Participants
4 Participants
n=7 Participants
6 Participants
n=15 Participants
Disease
Secondary leukemia
4 Participants
n=8 Participants
9 Participants
n=7 Participants
13 Participants
n=15 Participants

PRIMARY outcome

Timeframe: Actionable alteration was identified based on a combination of fluorescence in situ hybridization (FISH)/cytogenetics and sequencing. Average time to full results was 2 weeks.

Population: The analysis dataset is comprised of the first 100 patients in Cohort 1, as defined per protocol. One patient in Cohort 2 was later identified to have relapsed/refractory disease, so therefore the analysis population contains 101 patients. The remainder of Cohort 1 patients and the entirety of Cohort 2 patients are represented in the analysis of secondary outcomes.

An actionable alteration was defined as a cancer-associated genomic event for which there was a targeted drug available. Actionable genetic alterations were identified by a combination of standard-of-care cytogenetics/fluorescence in situ hybridization (FISH) and sequencing performed as part of the study. This study is considered feasible if at least 13% of participants analyzed have profile data and identifiable actionable alterations. A 90% exact binomial confidence interval is presented for the rate of patients with actionable alterations to compare the observed rate against 13%.

Outcome measures

Outcome measures
Measure
Relapsed/Refractory Leukemia
n=101 Participants
Cohort 1: Relapsed/refractory leukemia * Acute lymphoblastic leukemia, first or greater relapse * Acute myeloid leukemia, first or greater relapse * Leukemia refractory to induction chemotherapy * Other recurrent leukemia * Myelodysplastic syndrome (MDS), first or greater relapse, or refractory to initial therapy After the screening procedures confirms patient eligibility: * Leukemia Profiling will be performed * Identifying an actionable genomic alteration and making a matched targeted therapy treatment recommendation. Leukemia Profiling: Genetic profiling of leukemia cells will be performed and analyzed by an expert panel. Matched targeted therapy recommendation based on profiling results will be made if available. The recommendation, if available, will be communicated to the primary oncologist.
New Diagnosis
Cohort 2: New diagnosis * Acute myeloid leukemia, new diagnosis (excluding acute promyelocytic leukemia (APL)) * New diagnosis infant MLL-rearranged ALL or low hypodiploid (\<40 chromosomes) ALL * Rare leukemia- e.g., JMML, leukemia of ambiguous lineage * Secondary leukemia * Myelodysplastic syndrome (MDS) not eligible for stem cell transplant After the screening procedures confirms eligibility: * Leukemia Profiling will be performed * Identifying an actionable genomic alteration and making a matched targeted therapy treatment recommendation. Leukemia Profiling: Genetic profiling of leukemia cells will be performed and analyzed by an expert panel. Matched targeted therapy recommendation based on profiling results will be made if available. The recommendation, if available, will be communicated to the primary oncologist.
Rate of Patients With Actionable Alterations
77 percentage of participants
Interval 69.0 to 84.0

SECONDARY outcome

Timeframe: 2 Years

This Secondary Outcome will be addressed by describing the somatic genomic alterations in Cohort 1 (Relapsed/Refractory Leukemia arm) and Cohort 2 (New Diagnosis arm) that are discovered by genomic analyses.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: 2 Years

This Secondary Outcome will be addressed by a description of the time of results reporting. Documentation of the time of sample receipt and processing, resources and personnel utilized at each step of the process, time to results reporting, interpretation and review by Expert panel and communication of results to the primary oncologist will be captured.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: 2 Years

This Secondary Outcome will be addressed by describing the hopes and concerns of parents of children with recurrent/refractory/high-risk de novo leukemia regarding genomic testing of their child's leukemia as well as their understanding of the testing and evaluate whether the hopes and concerns were realized following the return of results.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: 2 Years

This Secondary Outcome will be addressed by completing analysis of the primary leukemia sensitivity testing to a panel of drugs or shRNA and establishing xenograft models in dedicated participating research laboratories and conducting co-clinical trials with the recommended matched therapy once the animal model is established.

Outcome measures

Outcome data not reported

Adverse Events

Relapsed/Refractory Leukemia

Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths

New Diagnosis

Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Yana Pikman

Dana-Farber Cancer Institute

Phone: 6176324754

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place