Sickle Cell Hemoglobinopathies and Bone Health

NCT02306993 | Active Not Recruiting DMC

• 1 other identifier: 14-136-6
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

Brief Summary

This research study has two purposes. The first purpose is to determine whether having sickle cell trait (SCT) is a risk factor for the development of bone thinning at an earlier age than expected. Nearly 10% of African Americans (AA) carry sickle cell trait and most of them are unaware of it. African Americans are less likely to develop thin bones than whites, but if they sustain a bone fracture, they are more likely to die from it. We believe having sickle cell trait may lead to bone thinning and predispose a subset of African Americans to dangerously thin bones. The second purpose is to try to understand why individuals with sickle cell disease (SCD) have thinner bones than healthy individuals do. Doctors have already discovered that people with sickle cell disease have very thin bones, but they have not determined why. Our study will try to identify whether the bone thinning is from the body not making enough bone or from the body losing bone once it is made.

Conditions

Sickle Cell Disease; Sickle Cell Trait

Keywords

Sickle Cell Disease (SCD); Sickle Cell Trait (SCT)

Outcome Measures

Primary Outcomes (1)

• Hemoglobin genotype with serum bone turnover markers and bone density

  Assess the association of hemoglobin genotype with serum bone turnover markers and bone density.

  3 years

Study Arms (3)

Healthy volunteers without SCT

Includes Healthy African American female volunteer between the ages of 18 and 45 years without sickle cell trait. Their blood and bone density x-ray will help researchers gain a better understanding of what might be different about the way having sickle cell trait affects bone.

Other: Healthy volunteers without SCT

Healthy volunteers with SCT

Includes Healthy African American female volunteer between the ages of 18 and 45 years with sickle cell trait. Their blood and bone density x-ray will help researchers gain a better understanding of what might be different about the way having sickle cell trait affects bone.

Other: Healthy volunteers with SCT

Volunteers with SCD

Healthy African American female volunteer between the ages of 18 and 45 years with sickle cell disease. Their blood and bone density x-ray will help researchers gain a better understanding of what might be different about the way having sickle cell disease affects bone.

Other: Volunteers with SCD

Interventions

Healthy volunteers without SCT OTHER

Subjects will undergo bone density evaluation via dual energy x-ray absorptiometry (DEXA) scanning. Subjects will provide a sample of for testing of bone turnover markers, complete blood count, and hemoglobin electrophoresis. Subjects will provide information about their dietary calcium intake and pain burden.

Healthy volunteers without SCT

Healthy volunteers with SCT OTHER

Subjects will undergo bone density evaluation via dual energy x-ray absorptiometry (DEXA) scanning. Subjects will provide a sample of for testing of bone turnover markers, complete blood count, and hemoglobin electrophoresis. Subjects will provide information about their dietary calcium intake and pain burden.

Healthy volunteers with SCT

Volunteers with SCD OTHER

Subjects will undergo bone density evaluation via dual energy x-ray absorptiometry (DEXA) scanning. Subjects will provide a sample of for testing of bone turnover markers, complete blood count, and hemoglobin electrophoresis. Subjects will provide information about their dietary calcium intake and pain burden.

Volunteers with SCD

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The target population includes healthy African American female volunteers with and without SCT and African American female volunteers with SCD.

You may qualify if:

• Age 18-45 years.
• Female.
• Regular menstrual periods.
• Self-identification of African American race.

You may not qualify if:

• Taking oral contraceptives or medications known to influence bone metabolism (e.g. Glucocorticoids, anti-resorptive or anabolic medications for osteoporosis, pharmacologic Vit D dosing).
• Known metabolic bone disorder (e.g. uncontrolled thyroid disease, hyperparathyroidism).
• Pregnant, breast-feeding, or within 3 months post-partum.
• Taking an investigational drug.

Sponsors & Collaborators

• UConn Health: lead

Study Sites (1)

UConn Health

Farmington, Connecticut, 06030, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood will be collected once from each subject by certified study staff at UCHC, CCMC or the participating approved community sites in a private setting.Subjects will donate \~12-15 cc of whole blood via venipuncture. Blood will be collected into 3 vacutainer tubes: one 3.5-mL lavender top tube for CBC and hemoglobin electrophoresis, one 3.5-mL yellow top tube for serum calcium and phosphate, and one 5-mL red-top tube for 25-OH vitamin D, P1NP, CTX, and PTH analysis. The

MeSH Terms

Conditions

Anemia, Sickle Cell; Sickle Cell Trait

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

• Biree Andemariam, MD

  UConn Health

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 1, 2014
• First Posted: December 3, 2014
• Study Start: May 1, 2014
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: March 27, 2025

Record last verified: 2025-03

Locations

US (1)