A Study to Learn More About the Health of Persons With Down Syndrome After Treatment for Acute Leukemia

NCT ID: NCT05702645

Last Updated: 2025-12-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

330 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-11-30

Study Completion Date

2029-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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B Acute Lymphoblastic Leukemia Associated With Down Syndrome Down Syndrome Myeloid Leukemia Associated With Down Syndrome

Study Design

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Observational Model Type

OTHER

Study Time Perspective

OTHER

Study Groups

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Observational (biospecimen collection, clinical evaluation)

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.

Biospecimen Collection

Intervention Type PROCEDURE

Patients undergo saliva/buccal and blood sample collection

Clinical Evaluation

Intervention Type OTHER

Undergo a clinical assessment

Neurocognitive Assessment

Intervention Type OTHER

Undergo neurocognitive assessment

Questionnaire Administration

Intervention Type OTHER

Ancillary studies

Survey Administration

Intervention Type OTHER

Ancillary studies

Interventions

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Biospecimen Collection

Patients undergo saliva/buccal and blood sample collection

Intervention Type PROCEDURE

Clinical Evaluation

Undergo a clinical assessment

Intervention Type OTHER

Neurocognitive Assessment

Undergo neurocognitive assessment

Intervention Type OTHER

Questionnaire Administration

Ancillary studies

Intervention Type OTHER

Survey Administration

Ancillary studies

Intervention Type OTHER

Other Intervention Names

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Biological Sample Collection Biospecimen Collected Specimen Collection Clinical Assessment

Eligibility Criteria

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Inclusion Criteria

* Patients age \>= 6 and \< 40 years at the time of enrollment
* A diagnosis of Down syndrome is required, and may include any of the three recognized types: trisomy 21 resulting from chromosomal nondisjunction (most common), translocation (the patient has 46 chromosomes, but all or part of an additional copy of chromosome 21 is attached to another chromosome), or mosaicism (trisomy 21 that is present in only a fraction of cells)
* All patients must be DS-AL survivors (acute lymphoblastic leukemia \[ALL\] or acute myeloid leukemia \[AML\])

* Note 1: Myeloid leukemia of Down syndrome (ML-DS) is included in the AML category above. Per the World Health Organization (WHO) definition of ML-DS, this diagnosis encompasses both myelodysplastic syndrome (MDS) and overt AML. Also, note that survivors of relapsed disease are eligible, so long as the patient otherwise meets eligibility criteria, i.e., treatment for relapse was completed at least 36 calendar months prior to enrollment and did not include stem cell transplant
* Note 2: A diagnosis of transient abnormal myelopoiesis (TAM), also known as transient myeloproliferative disease (TMD), is not alone sufficient for inclusion in this study
* Patients must have been treated for ALL or AML

* Note: History of COG therapeutic trial participation is not required. As a reminder ML-DS would be included under the AML category here above
* All cancer treatment (oral or intravenous) must have been completed at least 36 calendar months prior to enrollment
* Patients must have a life expectancy of \> 1 year
* 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

* Note: Parents or guardians are responsible for completing all questionnaires, even in the case of subjects that are \>= 18 years old
* All patients and/or their parents or legal guardians must sign a written informed consent
* All institutional, Food and Drug Administration (FDA), and National Cancer Institute (NCI) requirements for human studies must be met

Exclusion Criteria

* Patients with history of hematopoietic stem cell transplant (HSCT) are excluded

* Note: Patients with previous chimeric antigen receptor T-cell (CAR T-cell) therapy, and other cellular cancer therapies can participate, as long as all other eligibility criteria are satisfied
* 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

* Note: Prior history of transient abnormal myelopoiesis is allowed, but is not sufficient for eligibility
* Patients whose parents or guardians are unable to complete the required forms are excluded
Minimum Eligible Age

6 Years

Maximum Eligible Age

39 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's Oncology Group

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Maria M Gramatges

Role: PRINCIPAL_INVESTIGATOR

Children's Oncology Group

Locations

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Children's Hospital of Alabama

Birmingham, Alabama, United States

Site Status RECRUITING

Phoenix Childrens Hospital

Phoenix, Arizona, United States

Site Status RECRUITING

Valley Children's Hospital

Madera, California, United States

Site Status RECRUITING

UCSF Benioff Children's Hospital Oakland

Oakland, California, United States

Site Status RECRUITING

Kaiser Permanente-Oakland

Oakland, California, United States

Site Status RECRUITING

UCSF Medical Center-Mission Bay

San Francisco, California, United States

Site Status RECRUITING

Yale University

New Haven, Connecticut, United States

Site Status RECRUITING

Alfred I duPont Hospital for Children

Wilmington, Delaware, United States

Site Status RECRUITING

Golisano Children's Hospital of Southwest Florida

Fort Myers, Florida, United States

Site Status RECRUITING

Memorial Regional Hospital/Joe DiMaggio Children's Hospital

Hollywood, Florida, United States

Site Status RECRUITING

Nemours Children's Clinic-Jacksonville

Jacksonville, Florida, United States

Site Status RECRUITING

Nemours Children's Hospital

Orlando, Florida, United States

Site Status RECRUITING

Nemours Children's Clinic - Pensacola

Pensacola, Florida, United States

Site Status RECRUITING

Saint Joseph's Hospital/Children's Hospital-Tampa

Tampa, Florida, United States

Site Status RECRUITING

Children's Healthcare of Atlanta - Arthur M Blank Hospital

Atlanta, Georgia, United States

Site Status RECRUITING

Augusta University Medical Center

Augusta, Georgia, United States

Site Status RECRUITING

Kapiolani Medical Center for Women and Children

Honolulu, Hawaii, United States

Site Status RECRUITING

Lurie Children's Hospital-Chicago

Chicago, Illinois, United States

Site Status RECRUITING

Sinai Hospital of Baltimore

Baltimore, Maryland, United States

Site Status RECRUITING

C S Mott Children's Hospital

Ann Arbor, Michigan, United States

Site Status RECRUITING

Children's Hospital of Michigan

Detroit, Michigan, United States

Site Status RECRUITING

Children's Hospitals and Clinics of Minnesota - Minneapolis

Minneapolis, Minnesota, United States

Site Status RECRUITING

University of Minnesota/Masonic Cancer Center

Minneapolis, Minnesota, United States

Site Status RECRUITING

University of Mississippi Medical Center

Jackson, Mississippi, United States

Site Status RECRUITING

Children's Mercy Hospitals and Clinics

Kansas City, Missouri, United States

Site Status RECRUITING

Washington University School of Medicine

St Louis, Missouri, United States

Site Status RECRUITING

Children's Hospital and Medical Center of Omaha

Omaha, Nebraska, United States

Site Status RECRUITING

University of Nebraska Medical Center

Omaha, Nebraska, United States

Site Status RECRUITING

University Medical Center of Southern Nevada

Las Vegas, Nevada, United States

Site Status RECRUITING

Sunrise Hospital and Medical Center

Las Vegas, Nevada, United States

Site Status RECRUITING

Alliance for Childhood Diseases/Cure 4 the Kids Foundation

Las Vegas, Nevada, United States

Site Status RECRUITING

Summerlin Hospital Medical Center

Las Vegas, Nevada, United States

Site Status RECRUITING

Renown Regional Medical Center

Reno, Nevada, United States

Site Status RECRUITING

Hackensack University Medical Center

Hackensack, New Jersey, United States

Site Status RECRUITING

Albany Medical Center

Albany, New York, United States

Site Status RECRUITING

Roswell Park Cancer Institute

Buffalo, New York, United States

Site Status RECRUITING

Montefiore Medical Center - Moses Campus

The Bronx, New York, United States

Site Status RECRUITING

UNC Lineberger Comprehensive Cancer Center

Chapel Hill, North Carolina, United States

Site Status RECRUITING

Wake Forest University Health Sciences

Winston-Salem, North Carolina, United States

Site Status RECRUITING

Sanford Broadway Medical Center

Fargo, North Dakota, United States

Site Status RECRUITING

Children's Hospital Medical Center of Akron

Akron, Ohio, United States

Site Status RECRUITING

Rainbow Babies and Childrens Hospital

Cleveland, Ohio, United States

Site Status RECRUITING

Cleveland Clinic Foundation

Cleveland, Ohio, United States

Site Status RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status RECRUITING

Dayton Children's Hospital

Dayton, Ohio, United States

Site Status RECRUITING

University of Oklahoma Health Sciences Center

Oklahoma City, Oklahoma, United States

Site Status NOT_YET_RECRUITING

Oregon Health and Science University

Portland, Oregon, United States

Site Status RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Rhode Island Hospital

Providence, Rhode Island, United States

Site Status RECRUITING

Prisma Health Richland Hospital

Columbia, South Carolina, United States

Site Status RECRUITING

BI-LO Charities Children's Cancer Center

Greenville, South Carolina, United States

Site Status RECRUITING

Sanford USD Medical Center - Sioux Falls

Sioux Falls, South Dakota, United States

Site Status RECRUITING

East Tennessee Childrens Hospital

Knoxville, Tennessee, United States

Site Status RECRUITING

Saint Jude Children's Research Hospital

Memphis, Tennessee, United States

Site Status RECRUITING

Vanderbilt University/Ingram Cancer Center

Nashville, Tennessee, United States

Site Status RECRUITING

Dell Children's Medical Center of Central Texas

Austin, Texas, United States

Site Status RECRUITING

UT Southwestern/Simmons Cancer Center-Dallas

Dallas, Texas, United States

Site Status RECRUITING

Cook Children's Medical Center

Fort Worth, Texas, United States

Site Status RECRUITING

Baylor College of Medicine/Dan L Duncan Comprehensive Cancer Center

Houston, Texas, United States

Site Status RECRUITING

M D Anderson Cancer Center

Houston, Texas, United States

Site Status RECRUITING

University of Texas Health Science Center at San Antonio

San Antonio, Texas, United States

Site Status RECRUITING

Seattle Children's Hospital

Seattle, Washington, United States

Site Status RECRUITING

Providence Sacred Heart Medical Center and Children's Hospital

Spokane, Washington, United States

Site Status RECRUITING

University of Wisconsin Carbone Cancer Center - University Hospital

Madison, Wisconsin, United States

Site Status RECRUITING

Marshfield Medical Center-Marshfield

Marshfield, Wisconsin, United States

Site Status RECRUITING

Children's Hospital of Wisconsin

Milwaukee, Wisconsin, United States

Site Status RECRUITING

Children's Hospital

London, Ontario, Canada

Site Status RECRUITING

Countries

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United States Canada

Facility Contacts

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Other Identifiers

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ALTE22C1

Identifier Type: -

Identifier Source: org_study_id

NCI-2022-09410

Identifier Type: REGISTRY

Identifier Source: secondary_id

ALTE22C1

Identifier Type: OTHER

Identifier Source: secondary_id

COG-ALTE22C1

Identifier Type: OTHER

Identifier Source: secondary_id

ALTE22C1

Identifier Type: OTHER

Identifier Source: secondary_id

R01CA263000

Identifier Type: NIH

Identifier Source: secondary_id

View Link

UG1CA189955

Identifier Type: NIH

Identifier Source: secondary_id

View Link