|- candidate number||22518|
|- NTR Number||NTR5337|
|- ISRCTN||ISRCTN no longer applicable|
|- Date ISRCTN created|
|- date ISRCTN requested|
|- Date Registered NTR||30-jul-2015|
|- Secondary IDs||NL53609.041.15 |
|- Public Title||Congenital hemolytic anemia: causes, symptoms and consequences|
|- Scientific Title||Clinical sequelae and pathophysiology of rare congenital hemolytic anemias|
|- hypothesis||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|
|- Healt Condition(s) or Problem(s) studied||Congenital hemolytic anemia|
|- 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|
|- mec approval received||yes|
|- multicenter trial||no|
|- Type||Single arm|
|- planned startdate ||1-sep-2015|
|- planned closingdate||1-sep-2020|
|- Target number of participants||100|
|- Interventions||not applicable|
|- 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.
|- Timepoints||Enrollment, 1 year after enrollment, 2 years after enrollment|
|- Trial web site||not applicable|
|- status||open: patient inclusion|
|- CONTACT FOR PUBLIC QUERIES||MD, PhD-Candidate H.A.S. van Straaten|
|- CONTACT for SCIENTIFIC QUERIES||MD, PhD-Candidate H.A.S. van Straaten|
|- Sponsor/Initiator ||University Medical Center Utrecht (UMCU)|
(Source(s) of Monetary or Material Support)
|University Medical Center Utrecht (UMCU)|
|- Brief 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.
|- Main changes (audit trail)|
|- RECORD||30-jul-2015 - 3-mei-2017|