An observational study in B Acute Lymphoblastic Leukemia Associated With Down Syndrome, Down Syndrome and Myeloid Leukemia Associated With Down Syndrome, sponsored by Children's Oncology Group. Recruiting at 73 sites in 2 countries. Open to participants aged 6 Years to 39 Years. Per ClinicalTrials.gov, last updated 2026-08-25.
Sponsored by Children's Oncology Group · Observational
This study attempts to learn more about the health of persons with Down syndrome after treatment for acute leukemia. Children with Down syndrome are at increased risk for side effects during treatment for acute leukemia, but it is unclear of their risk for long-term effects of cancer treatment. By learning more about the factors that may contribute to chronic health conditions and long-term effects after treatment for leukemia in persons with Down syndrome, clinical practice guidelines for survivorship care can be developed to help improve their quality-of-life.
PRIMARY OBJECTIVE:
I. To determine the prevalence, type, and severity of chronic health conditions (CHC) in survivors of Down syndrome-associated acute leukemia (DS-AL), and to compare CHC with frequency-matched DS individuals that have no cancer history.
SECONDARY OBJECTIVES:
I. To characterize post-treatment clinical outcomes of DS-AL by prospective, in-person assessment.
II. To determine the prevalence and severity of parent-reported adverse neuropsychological (NP) outcomes in survivors of DS-AL, compared with frequency-matched DS individuals with no cancer history.
III. To determine health-related quality of life (HRQOL) in survivors of DS-AL, compared with frequency-matched DS individuals with no cancer history.
IV. To identify clinical risk determinants of CHC, NP, and clinical outcomes in survivors of DS-AL.
V. To establish a well-annotated cohort of survivors of DS-AL and associated biobank as a resource for future investigations.
EXPLORATORY OBJECTIVES:
I. For DS-acute lymphoblastic leukemia (DS-ALL), test if structural birth defects and genetic associations with etiology extend to CHC.
II. For DS-ALL, test if telomere length determined by polygenic risk score and telomere flow-fluorescence in situ hybridization (FISH) are associated with outcomes from in-person NP assessment.
OUTLINE:
Patients undergo an optional saliva/buccal swab in part 1 and clinical assessment in part 2 of the study. Patients with DS-ALL may then undergo blood sample collection and neurocognitive assessment in part 3 of the study.
438 studies on the registry are indexed under Down Syndrome; 99 are open to participants now.
This study's planned enrollment of 330 is above the median of 158 across 145 observational studies indexed under Down Syndrome.
Browse Down Syndrome studies →Children's Oncology Group is the lead sponsor of 448 studies on the registry; 36 are open to participants now.
Of its 12 completed or terminated interventional studies of FDA-regulated products, 11 (92%) have results posted.
Counted across the registry records on this site, refreshed daily.
DS-AL survivors from the Children's Oncology Group (COG) Registry and Epidemiology protocols or locally from participating institutions.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
All patients must be DS-AL survivors (acute lymphoblastic leukemia [ALL] or acute myeloid leukemia [AML])
Patients must have been treated for ALL or AML
Patient and parent of subject must be either English or Spanish speaking. At least one parent or guardian must be able to read and write in English or Spanish
Exclusion Criteria:
Patients with history of hematopoietic stem cell transplant () are excluded
Patients with a history of cancers prior to their ALL or AML diagnosis are excluded. Patients that developed a subsequent malignant neoplasm following their ALL or AML diagnosis are also excluded
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Relapsed: the illness came back after treatment had worked. Refractory: it did not respond to treatment, or stopped responding while still on it.
The study doctor’s estimate of how long someone is likely to live. Criteria use it so that people can stay in the study long enough for it to answer its question.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Stem cell (bone marrow) transplants. Allogeneic uses cells from a donor; autologous uses your own cells, collected earlier and given back.
Relapsed and refractory
Relapsed: the illness came back after treatment had worked. Refractory: it did not respond to treatment, or stopped responding while still on it.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Life expectancy
The study doctor’s estimate of how long someone is likely to live. Criteria use it so that people can stay in the study long enough for it to answer its question.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Allogeneic and autologous transplant
Stem cell (bone marrow) transplants. Allogeneic uses cells from a donor; autologous uses your own cells, collected earlier and given back.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients undergo an optional saliva/buccal swab in part 1 and clinical assessment in part 2 of the study. Patients with DS-ALL may then undergo blood sample collection and neurocognitive assessment in part 3 of the study.
Procedure: Biospecimen Collection · Other: Clinical Evaluation · Other: Neurocognitive Assessment · Other: Questionnaire Administration · Other: Survey Administration
Patients undergo saliva/buccal and blood sample collection
Also known as: Biological Sample Collection, Biospecimen Collected, Specimen Collection
Undergo a clinical assessment
Also known as: Clinical Assessment
Undergo neurocognitive assessment
Ancillary studies
Ancillary studies
Prevalence, type, and severity of chronic health conditions (CHC)
Summary statistics will be used to characterize the study populations on CHC outcomes. Quantitative data (number of comorbidities) will be summarized using descriptive statistics and correlational techniques. Will use pooled logistic regression to estimate overall response, 95% confidence interval (CI), and p-values for association of acute leukemia (AL) diagnosis with medical record-verified CHC, agnostic of time to CHC. Will use stratified Cox models to refine associations of AL diagnosis with CHC based on time to CHC incidence. Within each age interval, will estimate the hazard ratio, 95% CI, and p-values to report time-dependent effects of AL diagnosis on CHC.
Time frame: Up to study completion
Post-treatment clinical outcomes
Summary statistics will be used to characterize the study population on clinical outcomes, by AL subtype and, for each test, the proportion of normal, abnormal, and missing tests.
Time frame: Up to study completion
Prevalence and severity of parent-proxy neuropsychological (NP) outcomes
NP outcomes (measured by both parent proxy and direct assessment) will be reported by both raw and normalized scores, and quantitative data summarized using descriptive statistics and correlational techniques. The mean score for each test will be compared between the cohorts using a student t-test (2-sided significance level of 0.05 and equal variance).
Time frame: Up to study completion
Health-related quality of life (HRQOL)
HRQOL will be assessed using the Pediatric Quality of Life Inventory. Parents will be asked to scale 23 items comprising four dimensions (Physical, Emotional, Social, and School functioning) on a 5 point unweighted Likert scale. Will use a t-test (or Wilcoxon rank sum test if appropriate) to compare the mean (or median) HRQOL score.
Time frame: Up to study completion
Clinical risk determinants of CHC, NP, and clinical outcomes
Will use Cox regression to estimate the hazard ratio and 95% CI for (1) number, severity, and type of CHC, and (2) NP deficits dichotomized as clinically significant impairment yes/no (=\< 1.5 standard deviation outside of the mean for the age-normative sample) according to age at diagnosis, years off therapy, sex, race/ethnicity, diagnosis, and treatment exposures.
Time frame: Up to study completion
Well-annotated cohort of Down syndrome phenotyping acute leukemia study (DS-PALS) survivors and associated biobank
The number of patients who agree to be in the Biobanking part of the study and have leftover tumor tissue and some normal blood, bone marrow, or other tissue saved for future research.
Time frame: Up to study completion
Structural birth defects and genetic associations with etiology extending to CHC for Down syndrome acute lymphoblastic leukemia (DS-ALL)
Will determine the association between structural birth defects and the number, organ system category, and severity of CHC in DS-PALS survivors. Will use Cox regression to estimate hazard ratio and 95% CI for number, severity, and type of CHC by number of birth defects. Will explore the role of DS-ALL susceptibility variants identified in our genome-wide assessment on DS-associated CHC in survivors. Will use Cox regression to estimate the association between four DS-ALL susceptibility loci (rs58923657 near IKZF1, rs3731249 in CDKN2A, rs7090445 in ARID5B, and rs3781093 in GATA3) and CHC.
Time frame: Up to study completion
Telomere length (TL) determined by polygenic risk score and telomere flow-fluorescence in situ hybridization (FISH) in association with outcomes from in-person NP assessment for DS-ALL
Will determine genetically-estimated TL. Will use a multivariable Cox proportional hazard model to estimate hazard ratio, 95% CI for the association between each of nine variants and risk for NP deficit =\<1 standard deviation below the mean, and consider the weighted and unweighted risk score from the number of risk alleles present and previously-published beta estimates. For flow-FISH analyses, TL =\< 1st percentile is considered 'very short,' as previously defined. Will determine objective responses for NP deficits =\< 1.5 standard deviation below the mean for an age-normative sample in subjects with TL \> or =\< 1st percentile, adjusted for relevant covariates and treatment factors. Will report 95% CI, p values using a Chi square test (two-tailed p-value of 0.05 statistically significant).
Time frame: Up to study completion
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.