Metabolic disorders

Scientific activities clinical research

The CEMA UZA has been involved and aims to further develop scientific activities in the field of:

Clinical research into new therapies and treatments for metabolic diseases;
Early diagnosis of metabolic disorders and further expansion of newborn screening and targeted screening of treatable diseases in high-risk populations.

Amicus 011 (phase 3), 012 (phase 3) en 013 (phase 2A) chaperone therapy in Fabry disease;
PTC 124 (phase 3) (over reading or neglecting a stopcodon in the genetic information) in Methylmalonic acidemia type Cbl B and A;
BH4 or Kuvan® (Merck Serono) SPARK (phase 3) in patients with hyperphenylalaninemia younger than 4 years of age;
Kuvan® (Merck Serono) (phase 4) in patients with hyperphenylalaninemia older than 4 years of age;
HEP001 (Promethera) (phase 2, including safety issues) hepatocyte stem cell transplantation in patients with severe urea cycle defects (OCT deficiency);
Planned: growth hormone therapy in prepubertal patients affected by Methylmalonic acidemia.

CardioFabry study in patients with asymmetric hypertrophic cardiomyopathy (left ventricle);
Mucopolysaccharidoses or MPS screening in children with non-inflammatory “rheumatic” clinical symptoms and signs (multicenter study/Antwerp);
Switch studie (international multicenter study): Enzymatic Substitution Therapy switch in patients with Fabry disease;

Development of Electronic Diagnostic Platform through collaboration with ICT UZA

Extreme blue project with IBM (2009);
Data mining in MCADD screening (2010-2011);
Detection of growth hormone resistance syndromes on the basis of serum IGF-1 results from the database of the laboratory of UZA (2010);
Planned: Text mining (Intersystems): case study: ; detection of Fabry disease in patients data base of UZA
“Online remote consultation” using video and other multimedia techniques.