The major aim of this project is to elucidate the molecular basis of IgAN. A large cohort of IgAN patients will be screened on aberrancies in the DNA sequence or expression of the gene encoding Cosmc, a protein that is essential for the biosynthesis…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Nephropathies
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Clinical data collection, demographic materials (age, gender, race, weight,
lenght, BMI) and medical history (medication, stage of chronic kidney disease)
Blood and urine tests:
test routine bloodtest routine urine test this
project
Glucose x
Sodium x x
potassium x
Calcium x
Phosphate x
Ureum x
Creatinine x x
Albumine x
Hemoglobine x
Hematocriet x
proteine x
Micro albumine x
micr. haematuria x
Immunoglobulines/Totaal IgA x
bloodgroup x
nucleotide sequence
and expression analyse from
cosmc gene in white
bloodcells and mucus x
DNA sequence or expression
of the cosmc
gene
x
RT-PCR from cosmc mRNA x
Secondary outcome
not applicable.
Background summary
IgA nephropathy (IgAN) is the most common form of glomerulonephritis worldwide.
The disease is characterized by the precipitation of IgA1, a defense protein
that is synthesized by leucocytes, in the glomeruli. The damage caused by the
precipitated IgA1 may develop into chronic renal failure.
The molecular basis of the development of IgAN is not known. It has been shown
that serum from patients with IgA nephropathy contains aberrant IgA1 molecules.
Our hypothesis is that the formation of the aberrant IgA1 is due to a defect in
the biosynthesis of this immunoglobulin, and that this defect causes the IgA1
to precipitate in the glomeruli.
Study objective
The major aim of this project is to elucidate the molecular basis of IgAN. A
large cohort of IgAN patients will be screened on aberrancies in the DNA
sequence or expression of the gene encoding Cosmc, a protein that is essential
for the biosynthesis of normal IgA1. Aberrancies that are found will be related
to the observed clinical parameters of the respective patients. Increased
insight and understanding of the molecular basis of IgAN is important to enable
the future development of improved diagnostics and therapy for this disease.
Study design
Patients will be screened on aberrancies in the DNA sequence or expression of
the gene encoding Cosmc.
Patients in different stages of IgAN, patients with proteinuria and healthy
persons will be tested,
In this project 50 patients with IgAN, 50 patients with proteinuria and 50
healthy controls will be tested, matched for age, gender and race. The samples
will be gathered in the coming 1,5 year.
Study burden and risks
The burden and risk are minimized because bloodsample will be taken only when
routine bloodcontrole will take place.
Mucus samples are painless and will take minimal time.
postbus 2020
1400 DA Bussum
Nederland
postbus 2020
1400 DA Bussum
Nederland
Listed location countries
Age
Inclusion criteria
Age 0-75 years
Exclusion criteria
Diabetes Mellitus, malignancy
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 |
|---|---|
| CCMO | NL12328.029.06 |