The main objective is to determine genetic phenotype and the prevalence of anti-HLA (human leucocyte antigen) and anti-HPA (human platelet antigen) antibodies in patients with Glanzmann thrombasthenia.
ID
Source
Brief title
Condition
- Platelet disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
To determine the genetic phenotype in patients with Glanzmann thrombasthenia.
Secondary outcome
To estimate the prevalence of Human Leukocyte antigens (HLA) and Human Platelet
Antigens (HPA) antibodies in patients with Glanzmann thrombasthenia. These
antibodies may develop as a consequence of treatment with the current golden
standard: platelet transfusion or transfusion with other blood products
including red blood cells and plasma.
Together with the data from the Glanzmann-NHS registry, results from the
Glanzmann-NHS+ study will allow to investigate whether there are correlations
between genotype and clinical phenotype (bleeding score).
Background summary
Glanzmann thrombasthenia is a rare autosomal recessive platelet disorder
characterized by a lack of functional integrins aplhaIIb or β3 (glycoproteins
IIb/IIIa). 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 long-term safety and efficacy data for both current treatment and new
therapies.
The Glanzmann-NHS+ study was designed to investigate genetic phenotype 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.
Study objective
The main objective is to determine genetic phenotype and the prevalence of
anti-HLA (human leucocyte antigen) and anti-HPA (human platelet antigen)
antibodies in patients with Glanzmann thrombasthenia.
Study design
The Glanzmann-NHS+ study is an international, cross-sectional, multicentre
study to determine genetic mutation analysis and the prevalence of anti-HLA and
anti-HPA antibodies in patients with Glanzmann thrombasthenia.
Study burden and risks
Results of this study, combined with our longitudinal registry with
retrospective and prospective data collection of clinical phenotype,
haemorrhagic burden and bleeding management, will contribute to a better
understanding of the Glanzmann thrombasthenia and to get more insight into the
disease mechanisms. Together, this will help us to improve future therapy
options and to improve care for this patient group. The study consists of a
single venepuncture that will be combined with venepuncture during route
outpatient follow-up. Risk imposed by participation are considered negligible.
Heidelberglaan 100 - Huispost C01.428 Heidelberglaan 100 - Huispost C01.428
Utrecht 3584CX
NL
Heidelberglaan 100 - Huispost C01.428 Heidelberglaan 100 - Huispost C01.428
Utrecht 3584CX
NL
Listed location countries
Age
Inclusion criteria
o Adult patients (>=16 years);
o Biochemically or genetically diagnosed Glanzmann thrombasthenia.
o Willing and able to give written informed consent
Exclusion criteria
- Patients with acquired thrombasthenic states caused by auto-immune disorders
or drugs.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| ClinicalTrials.gov | NCT06204042 |
| CCMO | NL85068.041.24 |