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.

New treatment strategies

Clinical studies with pharmaceutical industry

  • 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.

Screening for metabolic diseases

Academic studies (investigator-driven)

  • 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.