Multinational Glanzmann Study

NCT06204042 | Not Yet Recruiting

• 1 other identifier: NL85068.041.24
• Study Type: observational
• Target: 200
• Locations: 0 countries
• Sites: N/A

Brief Summary

Glanzmann thrombasthenia is a rare autosomal recessive platelet disorder characterized by a lack of functional integrins alfaIIb or beta3 (glycoproteins IIb/IIIa). The prevalence is variously reported to be between 1:200,000 to 1:1,000,000, with substantial geographic variation. The clinical phenotype is dominated by an increased mucocutaneous bleeding tendency. In absence of a primary bleeding prophylaxis, the current treatment of Glanzmann thrombasthenia is mainly focused on prevention or management of bleeding. However, as potential new therapies emerge, clinicians require unbiased, long-term safety and efficacy data for both current treatment and new therapies. We have designed this study to investigate genetic phenotype (ITGA2B and ITGB3 genes) and the prevalence of antibodies against human leucocyte antigen (HLA) and human platelet antigen (HPA), the latter two being a potential consequence of the current golden standard treatment: platelet transfusion. The results of this study will be merged with a longitudinal registry with retrospective and prospective data collection of clinical phenotype, haemorrhagic burden and bleeding management. Analysis of the data from the Glanzmann-NHS+ study and the registry will help us to get a better understanding of the clinical variation among participants with Glanzmann thrombasthenia. The ultimate goal is to accelerate improvement in the care of patients with Glanzmann thrombasthenia.

Conditions

Glanzmann Thrombasthenia

Outcome Measures

Primary Outcomes (1)

• Genetic analysis for Glanzmann thrombasthenia

  Description of mutation analysis in the ITGA2B and ITGB3 genes.

  Single measurement at Baseline

Secondary Outcomes (2)

• Incidence of anti-Human Leucocyte Antigen (HLA) antibodies

  Single measurement at Baseline

• Incidence of anti-Human Platelet Antigen (HPA) antibodies

  Single measurement at Baseline

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients with biochemically or genetically diagnosed Glanzmann thrombasthenia.

You may qualify if:

• Adult patients (≥16 years);
• Biochemically or genetically diagnosed Glanzmann thrombasthenia.
• Willing and able to give written informed consent.

You may not qualify if:

• Patients with acquired thrombasthenic states caused by auto-immune disorders or drugs.

Sponsors & Collaborators

• UMC Utrecht: lead

MeSH Terms

Conditions

Thrombasthenia

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. R.E.G. Schutgens

Study Record Dates

• First Submitted: December 5, 2023
• First Posted: January 12, 2024
• Study Start: March 1, 2024
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2029
• Last Updated: February 28, 2024

Record last verified: 2024-02