The MILD (Multicenter Italian Lcat Deficiency) Study
Center E. Grossi Paoletti, Department of
Pharmacological Sciences, University of Milano (Prof. Laura Calabresi)
AIMS
The main objective of the MILD study is the identification of
probands/families carrying mutations in the LCAT gene, to
solve some unanswered questions on this rare disorder. In particular,
the availability of a relatively large number of affected subjects will
allow the definition of:
- the genotype-phenotype relationships in carriers of specific LCAT
gene mutations;
- the biochemical and clinical phenotype in carriers of one
or two
mutated LCAT alleles;
- the mode of inheritance of the disease;
- the risk of developing renal and cardiovascular disease
in carriers
of one or two mutated LCAT
alleles, and of prognostic biomarkers;
- treatment strategies and protocols aimed at preventing or
delaying the development of renal disease in the affected subjects.
PROBANDS' IDENTIFICATION AND
RECRUITMENT
Inclusion criterion:
- HDL-Colesterol < 28 mg/dl (5th percentile of the Italian
population) at two independent determinations.
Exclusion criteria:
- diabetes mellitus;
- obesity (BMI > 30 kg/m2);
- current or recent (< 2 years) proliferative disease;
- chronic liver disease;
- malnutrition or malabsorption;
- amyloidosis of known aetiology;
- Gaucher disease.
If you
have identified a
possible
LCAT
deficiency proband, send a
message to the Center E. Grossi Paoletti.