Acute Lymphoblastic Leukemia, PediatricNCT04770922
Pharmacogenomic Analysis in Pediatric Acute Lymphoblastic Leukemia
An observational study of Acute Lymphoblastic Leukemia, Pediatric and Adverse Drug Event, run by Cipherome, Inc. at 1 site in United States.
Trial summary
This is a retrospective biobank study evaluating the impact of novel genetic variants in a population of 6-mercaptopurine treated pediatric acute lymphoblastic leukemia patients. Read more about this study
- Who is it for?
- Ages Up to 21 years
- Conditions the study is for
- Acute Lymphoblastic Leukemia, Pediatric, Adverse Drug Event
- How many people
- 80 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Feb 2021to 10 Nov 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The study population are pediatric patients, under 21 years of age, diagnosed with acute lymphoblastic leukemia patients between April 20, 2012 to August 6, 2020, and received 6-mercaptopurine for therapeutic purposes. All patients were recruited by the investigators at Stanford University Lucile Packard Children's Hospital.
Who may be able to join
- Pediatric acute lymphoblastic leukemia (ALL) subjects
- Received 6-mercaptopurine
- Available biobank (bone marrow or blood) sample(s) from which deoxyribonucleic acid (DNA) can be extracted
- White blood cell (WBC) levels
Who cannot join
- Pediatric ALL subjects who did NOT receive 6-mercaptopurine
- No biobank sample
- No WBC level
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Pharmacogenomic Analysis of 6-mercaptopurine in Pediatric Acute Lymphoblastic Leukemia
This is a retrospective biobank study evaluating the impact of novel genetic variants in a population of 6-mercaptopurine treated pediatric acute lymphoblastic leukemia patients.
Read the detailed description
The study objective is to clinically validate that the presence of recently discovered novel genetic variation adversely affects a population of 6-mercaptopurine treated pediatric acute lymphoblastic leukemia patients using biobank samples.
- Keywords
- adverse drug event, acute lymphoblastic leukemia, mercaptopurine, pharmacogenomics
- Medical subject headings
- Precursor Cell Lymphoblastic Leukemia-Lymphoma, Drug-Related Side Effects and Adverse Reactions
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pediatric ALL patients on 6-mercaptopurine | Pediatric ALL patients treated with 6-mercaptopurine who did not experience neutropenia. | |
| Pediatric ALL patients on 6-mercaptopurine with neutropenia | Pediatric ALL patients treated with 6-mercaptopurine who experienced neutropenia. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Novel genetic variants impact on 6-mercaptopurine adverse drug reactions
Objective is to clinically validate the presence of novel genetic variants and its impact on adverse drug reactions in a population of pediatric ALL patients treated with 6-MP
Measured: 1 year
Secondary outcomes (1)
Evaluating relationship of genetic variants to ancestry
A secondary objective of this study is to compare the impact of the novel genetic variants with other known genetic variants contributing to ADR risk.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2021
- Study start23 Feb 2021
- Primary completion30 Aug 2021
- Study completion10 Nov 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Acute Lymphoblastic Leukemia, PediatricStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 80 participants (actual)
Sponsor and investigators
- Lead sponsor
- Cipherome, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Stanford University
- Responsible party
- Sponsor
- Investigators
- Kathleen M Sakamoto, MD, PhD, Principal investigator, Stanford UniversityStephanie M Smith, MD, Study director, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04770922
- Sponsor's protocol ID
- C04-001
- Status last verified
- Feb 2023
- First submitted
- 22 Feb 2021
- Last updated
- 16 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Bhatia S, Landier W, Hageman L, Chen Y, Kim H, Sun CL, Kornegay N, Evans WE, Angiolillo AL, Bostrom B, Casillas J, Lew G, Maloney KW, Mascarenhas L, Ritchey AK, Termuhlen AM, Carroll WL, Wong FL, Relling MV. Systemic Exposure to Thiopurines and Risk of Relapse in Children With Acute Lymphoblastic Leukemia: A Children's Oncology Group Study. JAMA Oncol. 2015 Jun;1(3):287-95. doi: 10.1001/jamaoncol.2015.0245.
PubMed 26181173Park Y, Kim H, Choi JY, Yun S, Min BJ, Seo ME, Im HJ, Kang HJ, Kim JH. Star Allele-Based Haplotyping versus Gene-Wise Variant Burden Scoring for Predicting 6-Mercaptopurine Intolerance in Pediatric Acute Lymphoblastic Leukemia Patients. Front Pharmacol. 2019 Jun 11;10:654. doi: 10.3389/fphar.2019.00654. eCollection 2019.
PubMed 31244663Relling MV, Gardner EE, Sandborn WJ, Schmiegelow K, Pui CH, Yee SW, Stein CM, Carrillo M, Evans WE, Klein TE; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther. 2011 Mar;89(3):387-91. doi: 10.1038/clpt.2010.320. Epub 2011 Jan 26.
PubMed 21270794Yang JJ, Landier W, Yang W, Liu C, Hageman L, Cheng C, Pei D, Chen Y, Crews KR, Kornegay N, Wong FL, Evans WE, Pui CH, Bhatia S, Relling MV. Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia. J Clin Oncol. 2015 Apr 10;33(11):1235-42. doi: 10.1200/JCO.2014.59.4671. Epub 2015 Jan 26.
PubMed 25624441Lennard L. Implementation of TPMT testing. Br J Clin Pharmacol. 2014 Apr;77(4):704-14. doi: 10.1111/bcp.12226.
PubMed 23962279
Study at a glance
From the registry record, last updated by the sponsor on 16 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pharmacogenomic Analysis of 6-mercaptopurine in Pediatric Acute Lymphoblastic Leukemia
- ClinicalTrials.gov ID
- NCT04770922
- Acronym / sponsor ID
- C04-001
- Keywords
- adverse drug event, acute lymphoblastic leukemia, mercaptopurine, pharmacogenomics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 80 participants (actual)
- Lead sponsor
- Cipherome, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Stanford University
- Study start
- 23 Feb 2021 (actual)
- Primary completion
- 30 Aug 2021 (actual)
- Study completion
- 10 Nov 2021 (actual)
- First posted
- 25 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a retrospective biobank study evaluating the impact of novel genetic variants in a population of 6-mercaptopurine treated pediatric acute lymphoblastic leukemia patients.
Detailed description
The study objective is to clinically validate that the presence of recently discovered novel genetic variation adversely affects a population of 6-mercaptopurine treated pediatric acute lymphoblastic leukemia patients using biobank samples.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Pediatric ALL patients on 6-mercaptopurine | – | –Pediatric ALL patients treated with 6-mercaptopurine who did not experience neutropenia. |
| Pediatric ALL patients on 6-mercaptopurine with neutropenia | – | –Pediatric ALL patients treated with 6-mercaptopurine who experienced neutropenia. |
Who may qualify
- Ages
- Up to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study population are pediatric patients, under 21 years of age, diagnosed with acute lymphoblastic leukemia patients between April 20, 2012 to August 6, 2020, and received 6-mercaptopurine for therapeutic purposes. All patients were recruited by the investigators at Stanford University Lucile Packard Children's Hospital.
Key inclusion criteria (4 listed)
- Pediatric acute lymphoblastic leukemia (ALL) subjects
- Received 6-mercaptopurine
- Available biobank (bone marrow or blood) sample(s) from which deoxyribonucleic acid (DNA) can be extracted
- White blood cell (WBC) levels
Key exclusion criteria (3 listed)
- Pediatric ALL subjects who did NOT receive 6-mercaptopurine
- No biobank sample
- No WBC level
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Novel genetic variants impact on 6-mercaptopurine adverse drug reactions
Time frame: 1 year
Objective is to clinically validate the presence of novel genetic variants and its impact on adverse drug reactions in a population of pediatric ALL patients treated with 6-MP
1 secondary outcome
Evaluating relationship of genetic variants to ancestry
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Feb 2023.
- Background: PubMed 26181173Bhatia S, Landier W, Hageman L, Chen Y, Kim H, Sun CL, Kornegay N, Evans WE, Angiolillo AL, Bostrom B, Casillas J, Lew G, Maloney KW, Mascarenhas L, Ritchey AK, Termuhlen AM, Carroll WL, Wong FL, Relling MV. Systemic Exposure to Thiopurines and Risk of Relapse in Children With Acute Lymphoblastic Leukemia: A Children's Oncology Group Study. JAMA Oncol. 2015 Jun;1(3):287-95. doi: 10.1001/jamaoncol.2015.0245.
- Background: PubMed 31244663Park Y, Kim H, Choi JY, Yun S, Min BJ, Seo ME, Im HJ, Kang HJ, Kim JH. Star Allele-Based Haplotyping versus Gene-Wise Variant Burden Scoring for Predicting 6-Mercaptopurine Intolerance in Pediatric Acute Lymphoblastic Leukemia Patients. Front Pharmacol. 2019 Jun 11;10:654. doi: 10.3389/fphar.2019.00654. eCollection 2019.
- Results publication: PubMed 21270794Relling MV, Gardner EE, Sandborn WJ, Schmiegelow K, Pui CH, Yee SW, Stein CM, Carrillo M, Evans WE, Klein TE; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther. 2011 Mar;89(3):387-91. doi: 10.1038/clpt.2010.320. Epub 2011 Jan 26.
- Results publication: PubMed 25624441Yang JJ, Landier W, Yang W, Liu C, Hageman L, Cheng C, Pei D, Chen Y, Crews KR, Kornegay N, Wong FL, Evans WE, Pui CH, Bhatia S, Relling MV. Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia. J Clin Oncol. 2015 Apr 10;33(11):1235-42. doi: 10.1200/JCO.2014.59.4671. Epub 2015 Jan 26.
- Results publication: PubMed 23962279Lennard L. Implementation of TPMT testing. Br J Clin Pharmacol. 2014 Apr;77(4):704-14. doi: 10.1111/bcp.12226.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kathleen M Sakamoto, MD, PhD principal investigator
Stanford University
Stephanie M Smith, MD study director
Stanford University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Acute Lymphoblastic Leukemia, Pediatric and Adverse Drug Event, run by Cipherome, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Novel genetic variants impact on 6-mercaptopurine adverse drug reactions (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04770922, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Feb 2023; AzTrials last refreshed its copy on 26 Oct 2026.