Functional Ovarian Reserve in Sickle Cell Disease

This study aims to look at AMH levels in female children with SCD as they go through puberty to see if they are at the same level as other children without SCD at the same age and/or pubertal stage and will also look at how treatment exposures and pain crises affect the AMH levels in children with SCD.

Primary Objective:

• To evaluate whether AMH levels are lower in pre-teens and adolescent females with SCD when compared with healthy female controls (siblings, relatives, non-relatives of similar race/ethnicity) at the same age and pubertal stage.

Secondary Objectives:

• To evaluate whether AMH has a similar trajectory in female pre-teens and adolescents with SCD when compared with the general population and controls.
• To describe pubertal timing, menstrual history, and markers of functional ovarian reserve (FOR), as well as prevalence of premature ovarian insufficiency (POI) as determined by medical history and laboratory markers in pre-teens and adolescents with SCD in comparison with their female controls.
• To correlate AMH levels with FSH and estradiol levels, normal pubertal timing, and menstrual history in children and adolescents with SCD.
• To correlate the severity of SCD (number of vaso-occlusive events) with pubertal timing, presence of normal vs abnormal menstruation, and laboratory markers of FOR, in pre-teens and adolescents with SCD.
• To correlate the use of SCD modifying treatment modalities with pubertal timing, menstrual pattern, and laboratory markers of FOR in pre-teens and adolescents with SCD.

Study Overview

• Status: Recruiting
• Conditions: Sickle Cell Disease

Detailed Description

This is a non-therapeutic cross-sectional two-year pilot study within an eight-year longitudinal study.

After the parent and/or patient has given permission to enroll on the research study, review of the electronic medical record and SCCRIP (NCT02098863) data base will be performed to obtain data on current medical therapy, number of vaso-occlusive events and types of events as well as ED or hospital visits, laboratory studies and use of sickle cell disease modifying therapies.

A questionnaire will be distributed annually from time of enrollment until age 19.0 years to participants with SCD and consenting legal guardian (if applicable). For healthy controls, the same questionnaire will be provided to coincide with their one-time research visit. Pubertal status will be collected from questionnaires (prepubertal/no breast tissue, pubertal (breast tissue, but no menses), post-menarcheal. For those menstruating, regularity of menses will be ascertained through questionnaire answers and also date of last menstrual period. Questions for participants will also include questions regarding all forms of hormonal contraception and current opiate-containing medications.

For subjects with SCD, blood will be collected at the time of a clinic visit and occur concurrently with an already scheduled lab draw for clinical care with a goal frequency of annually. For controls, blood will be collected at a one-time study visit.

• Study Type: Observational
• Enrollment (Estimated): 440

Contacts and Locations

• Study Contact: Name: Christine Yu, MD; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Study Locations

• United States
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • Recruiting
      • St. Jude Children's Research Hospital
      • Principal Investigator: Christine Yu, MD
      • Contact: Christine Yu, MD; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Females with Sickle cell disease of any genotype or a healthy sibling, relative, household member, or other females of similar race/ethnicity of a patient with sickle cell disease

Description

Inclusion Criteria:

• Sickle cell disease of any genotype or a healthy sibling, relative, household member, or other females of similar race/ethnicity of a patient with sickle cell disease
• Age at enrollment ≥ 10 years and < 19 years
• Females

Exclusion Criteria:

• History of hematopoietic stem cell transplantation or gene therapy prior to enrollment or preparing for hematopoietic stem cell transplantation or gene therapy prior to enrollment
• Inability or unwillingness of research participant or legal guardian/representative to give written informed consent
• Pregnancy

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Participants with Sickle Cell Disease; Females with sickle cell disease, all genotypes (age at enrollment ≥ 10 years and < 19 years)
Healthy Controls; Healthy female siblings/relatives of patients with SCD (including those with sickle cell trait), and other females of similar race/ethnicity (age at enrollment ≥ 10 years and < 19 years)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Difference in AMH levels in pre-teens and adolescent females with SCD compared with healthy female controls (siblings, relatives, or non-relatives) at the same age	Investigators will address this by targeting the relative difference in mean. For each participant, the earliest AMH measurement will be used. All patients recruited during the cross-sectional stage with at least 1 AMH measurement will be evaluable for the analysis, except for patients who have received hematopoietic stem cell transplant (HSCT) or gene therapy before their first study AMH measurement. Patients who either (1) have no available AMH at the end of the cross-sectional phase or (2) received HSCT or gene therapy before their first study AMH measurement will be considered unevaluable for this analysis.	Earliest AMH collection after enrollment, up to 2 years after study activation
Difference in AMH levels in pre-teens and adolescent females with SCD compared with healthy female controls (siblings, relatives, or non-relatives) at the same pubertal stage	Investigators will address this by targeting the relative difference in mean. For each participant, the earliest AMH measurement will be used. Pubertal status will be defined as a nominal variable with the following categories: prepubertal, pubertal but premenarchal, postmenarchal, and 3 years postmenarchal. This will be derived from the self-reported status of any breast development and experiencing menarche by the time of the visit with the AMH draw.	Earliest AMH collection after enrollment, up to 2 years after study activation

Collaborators and Investigators

• Sponsor: St. Jude Children's Research Hospital
• Investigators: Principal Investigator: Christine Yu, MD, St. Jude Children's Research Hospital

Publications and helpful links

Helpful Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Study record dates

Study Major Dates

• Study Start (Actual): June 2, 2026
• Primary Completion (Estimated): July 1, 2028
• Study Completion (Estimated): February 1, 2034

Study Registration Dates

• First Submitted: January 26, 2026
• First Submitted That Met QC Criteria: February 2, 2026
• First Posted (Actual): February 6, 2026

Study Record Updates

• Last Update Posted (Actual): June 4, 2026
• Last Update Submitted That Met QC Criteria: June 3, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Keywords: Children; Female; Puberty; Sickle Cell Disease; Healthy Controls; Anti-Mullerian Hormone (AMH); Ovary Function
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Hematologic Diseases; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hemoglobinopathies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Anemia, Sickle Cell
• Other Study ID Numbers: FORSCD

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No