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ID
Source
Brief title
Health condition
congenital hemolytic anemia, anemia, hereditary hemolytic anemia, sickle cell disease, thalassemia, pyruvate kinase deficiency, G6PD, spherocytosis.
(Congenitale hemolytische anemie, anemie, sikkelcel ziekte, thalassemie, PKD, G6PD, sferocytose)
Sponsors and support
Intervention
Outcome measures
Primary outcome
To create insight in current disease burden by creating a descriptive cohort of patients, diagnosed with rare congenital hemolytic anemia.
Points of interest are:
- Prevalence and incidence of disease
- Quality of life
- Prevalence and incidence of iron overload
- Prevalence and incidence of comorbidities and related silent organ damage
- Prevalence and incidence of splenectomy and complications
Secondary outcome
To further analyze the pathophysiology of congenital hemolytic anemia: to perform a case control study comparing patient parameters and healthy control parameters.
Parameters of interest are:
1. The tolerability of low hemoglobin levels in rare congenital hemolytic anemia patients.
2. Patterns in laboratory parameters: pro-inflammatory profile, Red blood cell characteristics, microparticle analysis, and markers of coagulation activation.
3. RNA seq parameters for peripheral blood mononuclear cell transcriptome mapping using blood sample analysis and then compare and relate outcome to other results of the study.
Background summary
Rationale: Rare congenital hemolytic anemias share a common clinical picture and common pathophysiologic pathways such as iron overload, severe anemia and hemolysis. These patients develop comparable organ damage to patients with more common and more studied congenital hemoglobinopathies such as thalassemia and sickle cell disease. Treatment nowadays is mainly supportive. Research is necessary in order to find the best monitoring- and treatment regimens.
Objective: To create insight in current disease burden by creating a descriptive cohort of patients, diagnosed with rare congenital hemolytic anemia. To further analyze the pathophysiology of congenital hemolytic anemia by performing a case control study comparing patient parameters and healthy control parameters.
Study design: longitudinal observational descriptive cohort study and case-control study
Study population: All patients diagnosed with rare congenital hemolytic anemia. The majority of this patient group will be composed of patients with hereditary red blood cell membranopathies and red blood cell enzyme disorders.
Main study parameters/endpoints:
Prevalence and incidence of disease
Quality of life
Prevalence and incidence of iron overload
Prevalence and incidence of comorbidities and related silent organ damage
Prevalence and incidence of splenectomy and complications
The study consist of medical chart review, yearly two short quality of live questionnaires, a 6 minute walking test and one additional venipuncture.
Study objective
Observational study. We aim to analyze the clinical consequences of congenital hemolytic anemia in order to treat and monitor patients optimally. Secondary, we aim to gain understanding in the pathophysiology of congenital hemolytic anemia
Study design
Enrollment, 1 year after enrollment, 2 years after enrollment
Intervention
not applicable
H.A.S. van Straaten
UMCU Room number C01.409
Utrecht 3584 CX
The Netherlands
h.a.s.vanstraaten-3@umcutrecht.nl
H.A.S. van Straaten
UMCU Room number C01.409
Utrecht 3584 CX
The Netherlands
h.a.s.vanstraaten-3@umcutrecht.nl
Inclusion criteria
Adult patients who meet the criteria of non-immune mediated hemolytic anemia in whom acquired causes have been excluded in the diagnostic track. Such patients can be subdivided into 4 main categories:
1. red cell membrane disorders, e.g. hereditary spherocytosis
2. disorders of hemoglobin, e.g. thalassemia
3. metabolic disorders, e.g. pyruvate kinase deficiency
4. hemolytic anemia e.c.i.
Exclusion criteria
Inability to give informed consent
Design
Recruitment
Followed up by the following (possibly more current) registration
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL5189 |
| NTR-old | NTR5337 |
| CCMO | NL53609.041.15 |
| OMON | NL-OMON42799 |