Sickle Cell Clinical Research and Intervention Program

NCT02098863 | Recruiting

• 3 other identifiers: SCCRIP1U01HL133996UTHSC-MRC Sub
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 6

Brief Summary

Despite the important work of previous sickle cell disease (SCD) cohort studies, there remain many understudied areas that require investigation. An important knowledge deficit is the slow but progressive process of chronic end-organ dysfunction. The majority of organ dysfunction becomes apparent in the young adult years, but comprehensive assessment of adults and understanding of predictors of adulthood organ dysfunction are insufficient. Similarly, the role of disease-modifying therapies, such as hydroxyurea, in preventing organ dysfunction later in life is not clear. Extended follow-up of patients through the transition into adulthood is imperative to understand the long-term implications of pediatric sickle cell care. This observational study will collect data in a systematic fashion at participants' regular clinic visits (in-person or remote) to answer the objectives described below. In addition to primary study objectives, SCCRIP participants will be eligible to participate in a sub-study, which will investigate genetically determined responses to Hydroxyurea (HU) via a pharmacokinetic study (PK). This one time study will involve blood collection at timed intervals proceeding a dose of HU. Defining the basis for this inter-individual variability will allow the identification of poor HU responders prior to initiation of therapy and the seeking of alternative treatments which seek to optimize disease treatment by accounting for individual variability in genes, environment, and lifestyle.

Conditions

Sickle Cell Disease

Keywords

Sickle Cell Anemia; Sickle Cell Disease; Survival; Mortality; End-Order Dysfunction

Outcome Measures

Primary Outcomes (2)

• Relationship between treatment plan and health outcomes in participants with sickle cell disease (SCD)

  As described in the Detailed Description, standard of care data will be collected from participants every two years during participants' annual clinic visits until study participation is discontinued or until participants reach death/end of life, whichever occurs last. This collection of observational data will be entered into a study database and will serve as a research resource to facilitate evaluation of health outcomes in participants with SCD from pediatric care into adulthood.

  Every 2 years from newborn to ≤ 30 years of age, and every 6 years after age 30 until end-of-life, up until December 2044

• Relationship between genetic properties of biological samples and health outcomes in participants with sickle cell disease

  A repository of biological samples from participants with sickle cell disease will be established for future retrospective studies investigating genetic and epigenetic contributions to disease severity, response to treatment, and morbidity and mortality.

  Collected every 6 years from newborn until end-of life, up until December 2044

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants with a diagnosis of sickle cell disease of any genotype.

You may qualify if:

• A diagnosis of sickle cell disease of any genotype.
• Participants at St. Jude Children's Research Hospital who are consented to the parent protocol (SCCRIP, Amendment 6.1 or above).
• Participants currently completing a hydroxyurea (HU) regimen, who have achieved maximum tolerated dose and have maintained that dose for a minimum of 90 days prior to enrollment.

You may not qualify if:

• Any medical or social reason, which, in the opinion of the principal investigators would make the participation of the subject ill-advised.
• Participants unable to complete the blood draws required for PK sampling.
• Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.
• Any medical or social reason, which, in the opinion of the principal investigators would make the participation of the subject ill-advised.

Sponsors & Collaborators

• University of Memphis School of Public Health: collaborator
• Le Bonheur Children's Hospital: collaborator
• University of Alabama at Birmingham: collaborator
• Washington University School of Medicine: collaborator
• UTHSC-ORNL Center in Biomedical Informatics: collaborator
• University of Washington: collaborator
• Medical College of Wisconsin: collaborator
• University of Tennessee: collaborator
• Children's Hospital of Philadelphia: collaborator
• National Heart, Lung, and Blood Institute (NHLBI): collaborator
• Vanderbilt University School of Medicine: collaborator
• Baylor College of Medicine: collaborator
• St. Jude Children's Research Hospital: lead

Study Sites (6)

Children's Hospital of Illinois at OSF-Saint Francis Medical Center

Peoria, Illinois, 61637, United States

RECRUITING

Our Lady of the Lake Regional Medical Center

Baton Rouge, Louisiana, 70808, United States

COMPLETED

Novant Health Hemby Children's Hospital

Charlotte, North Carolina, 28204, United States

RECRUITING

Regional One Health, Diggs-Kraus Sickle Cell Center

Memphis, Tennessee, 38103, United States

RECRUITING

Methodist Adult Comprehensive Sickle Cell Center

Memphis, Tennessee, 38104, United States

RECRUITING

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Related Publications (5)

• Rashkin SR, Kang G, Takemoto CM, Weiss MJ, Ataga KI, Saraf SL, Lebensburger J, Zahr RS. The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia-Associated Kidney Function. Am J Hematol. 2026 Mar 23. doi: 10.1002/ajh.70290. Online ahead of print.

  PMID: 41870384 DERIVED

• Zahr RS, Kang G, Zhang X, Rashkin SR, Kovesdy CP, Takemoto C, Weiss M, Lebensburger J, Ataga KI, Saraf SL. Development of Polygenic Risk Score for Persistent Albuminuria in Children and Adults With Sickle Cell Anemia. Am J Hematol. 2025 Jun;100(6):1019-1028. doi: 10.1002/ajh.27678. Epub 2025 Apr 5.

  PMID: 40186439 DERIVED

• Chang TC, Yu J, Wang Z, Hankins JS, Weiss MJ, Wu G, Westhoff CM, Chou ST, Zheng Y. Machine learning to optimize automated RH genotyping using whole-exome sequencing data. Blood Adv. 2024 Jun 11;8(11):2651-2659. doi: 10.1182/bloodadvances.2023011660.

  PMID: 38522094 DERIVED

• Rai P, Okhomina VI, Kang G, Martinez HR, Hankins JS, Joshi V. Longitudinal effect of disease-modifying therapy on left ventricular diastolic function in children with sickle cell anemia. Am J Hematol. 2023 Jun;98(6):838-847. doi: 10.1002/ajh.26911. Epub 2023 Mar 20.

  PMID: 36890729 DERIVED

• Champlin G, Hwang SN, Heitzer A, Ding J, Jacola L, Estepp JH, Wang W, Ataga KI, Owens CL, Newman J, King AA, Davis R, Kang G, Hankins JS. Progression of central nervous system disease from pediatric to young adulthood in sickle cell anemia. Exp Biol Med (Maywood). 2021 Dec;246(23):2473-2479. doi: 10.1177/15353702211035778. Epub 2021 Aug 18.

  PMID: 34407676 DERIVED

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude
• SCCRIP: Sickle Cell Research and Intervention Program

Biospecimen

Retention: SAMPLES WITH DNA

All participants will be offered the option of having biological specimens collected and saved for future research. DNA, plasma, and urine will be collected from participants and stored in St. Jude Biorepository. In addition, buccal, nasal, and rectal swabs and stool samples will be collected from participants and stored in the Infectious Disease repository at St. Jude Children's Research Hospital. This will facilitate future high quality genotype-phenotype studies and other genetic and proteomic studies related to variability in disease severity, treatment response, and health outcomes.

MeSH Terms

Conditions

Anemia, Sickle Cell

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Clifford Takemoto, MD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Clifford Takemoto, MD

CONTACT

866-278-5833; referralinfo@stjude.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 99 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 21, 2014
• First Posted: March 28, 2014
• Study Start: April 15, 2014
• Primary Completion (Estimated): December 1, 2044
• Study Completion (Estimated): December 1, 2044
• Last Updated: December 4, 2025

Record last verified: 2025-12

Locations

US (6)