The Role of Red Cell Characteristics, Angiogenesis, Viscosity and Oxygenation in the Pathophysiology of Sickle Cell Related Retinopathy

NCT06396403 | Completed

• 1 other identifier: NL81111.018.22
• Study Type: observational
• Target: 68
• Locations: 1 country
• Sites: 1

Brief Summary

Objective: to gain insight in the pathogenesis, to identify biomarkers to recognize patients at risk for proliferative SCR and to investigate its associations with clinical and laboratory characteristics. Endpoints: The investigators will determine the difference in the above named parameters between patients with and without PSCR Study design: This case control study will include adult sickle cell disease patients with the HbSS or HbSC genotype. For both genotypes, 20 patients without sickle cell retinopathy (SCR) and 20 patients with PSCR will be included, resulting in a total of 80 patients. Venous blood samples and retinal imaging scans will be collected for each included patient.

Conditions

Sickle Cell Retinopathy; Sickle Cell Disease; Sickle Cell SC Disease; Sickle Cell-SS Disease

Outcome Measures

Primary Outcomes (4)

• Differences in Red blood cell characteristics (Oxygenscan)

  The difference in red blood cell characteristics (point of sickling) between patients with and without PSCR in both genotypes

  Immediately after the venepuncture

• Differences in Angiogenesis biomarkers

  The difference in plasma levels of parameters representing the level of systemic angiogenesis activity (CD105, VEGF, CTGF and angiopoietin-2) between patients with and without PSCR in both genotypes

  Immediately after the venepuncture

• Differences in Retinal Oxygenation

  The difference in oxygenation of the retina by assessing the vessel density with angio- OCT and by assessing the oxygen saturation in the retinal arterioles and venules with the Oxymap scan in patients with and without PSCR in both genotypes

  Immediately after the venepuncture

• Differences in Whole blood viscosity

  The difference in whole blood viscosity between patients with and without PSCR in both genotypes

  Immediately after the venepuncture

Secondary Outcomes (4)

• Associations between Oxygenation parameters and Red blood cell characteristics

  Immediately after the venepuncture

• Associations between sex, age, and genotype and the biomarkers of angiogenesis

  Immediately after the venepuncture

• Association between hemoglobin, and HbF and biomarkers of angiogenesis

  Immediately after the venepuncture

• Associations between whole blood viscosity and genotype

  Immediately after the venepuncture

Study Arms (4)

HbSS patients without SCR

Adult sickle cell patients with the HbSS genotype and without sickle cell retinopathy

Other: Collection of venous blood samples

HbSS patients with PSCR

Adult sickle cell patients with the HbSS genotype and proliferative sickle cell retinopathy

Other: Collection of venous blood samples

HbSC patients without SCR

Adult sickle cell patients with the HbSC genotype and without sickle cell retinopathy

Other: Collection of venous blood samples

HbSC patients with PSCR

Adult sickle cell patients with the HbSC genotype and proliferative sickle cell retinopathy

Other: Collection of venous blood samples

Interventions

Collection of venous blood samples OTHER

collection includes 1 EDTA tube and 1 Sarstedt S-Monovette tube of 5 mL

HbSC patients with PSCR; HbSC patients without SCR; HbSS patients with PSCR; HbSS patients without SCR

Eligibility Criteria

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

Study Population

Adult patients with sickle cell disease (SCD) with the HbSS or HbSC genotype, attending the outpatient Sickle Cell Clinic from the Amsterdam UMC.

You may qualify if:

• Minimum age of 18 years
• HbSC or HbSS genotype
• Recent ophthalmologic examination (up to 2 years prior) or (willingness to attend) upcoming examination

You may not qualify if:

• Age below 18 years
• Genotype other than HbSC or HbSS
• No recent ophthalmologic examination and no intention to visit the outpatient clinic for ophthalmic and hematologic examination
• Participation in trials with either crizanlizumab, voxelotor or mitapivat.

Sponsors & Collaborators

• Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA): lead

Study Sites (1)

Amsterdam UMC

Amsterdam, North Holland, 1105AZ, Netherlands

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

venous blood

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

• Bart J Biemond, MD PhD

  Department of Hematology, Amsterdam UMC, Amsterdam, The Netherlands

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. B.J. Biemond, MD PhD

Study Record Dates

• First Submitted: April 24, 2024
• First Posted: May 2, 2024
• Study Start: June 13, 2023
• Primary Completion: June 17, 2024
• Study Completion: June 17, 2024
• Last Updated: November 15, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)