Edegem, BELGIO

Area of Expertise

The Antwerp University Hospital (UZA) is a tertiary referral center and rare disease reference center in Belgium. Patients where rare disease are diagnosed and treated in a multidisciplinary approach.
Fran├žois Eyskens is taking care of patients with inherited metabolic diseases since 1991. Actually he is working as a chief of clinics in Pediatrics at the University Hospital of Antwerp (UZA) and coordinates the Centre of Metabolic Diseases (CEMA) located at the sites of UZA and ZNA, and the metabolic laboratory, where the neonatal screening and analysis of different metabolic compounds is performed. He is an associated professor at the University of Antwerp (Dept. of Medicine; Laboratory of Experimental Medicine and Pediatrics).
The CEMA Antwerp has a multidisciplinary team of dietitians who are continuously trained in the dietary treatment of metabolic disease; and clinical psychologists who join every second ambulatory consultation after a diagnosis has been made and follow individual patients and their family in case of psycho-emotional problems, behavioral disturbances, cognitive dysfunction,… Their work is coordinated by a child psychiatrist Annik Simons in close collaboration with the other team members.
From January 2016 the medical staff was enforced by a child neurologist An Jonckheere, who will organize an interdisciplinary consultation with the department of child neurology and medical genetics for children with development disorders in order to achieve a proper diagnosis.
The transition towards adult clinic is filled in by Ann Verhaegen, endocrinologist.
The metabolic laboratorium PCMA is a highly specialized lab in diagnosis and follow up of metabolic diseases (see Orphanet) and is involved in the neonatal screening of Flanders-Belgium (see Orphanet). It has an accreditation (BELAC 238-MED).
There is an intense interactive collaboration with the neurology and medical genetics department and laboratory.

  • Specific domains of interest and research:
    – Screening for inherited metabolic diseases; lysosomal storage diseases (LSDs); by enzymatic assay using Tandem Mass Spectrometry in dried blood spots, in close collaboration with University of Washington, Seattle, USA and Centogene, Rostock, Germay.
    – Besides early diagnosis we are interested in improving therapeutic efficacy in our patients. The clinical research of Eyskens is directed towards innovative treatment improving the outcome and the quality of life of our patients: principal investigator in several Clinical Studies. We promote home therapy for enzymatic replacement therapy and search for reimbursement to achieve this.
    – Fundamental research (A. Jonckheere):Transcription factor EB (TFEB) has been discovered recently as a master gene stimulating the ALP. Strategies to increase TFEB activity, which would upregulate the ALP, may improve outcome in lysosomal, mitochondrial and neurodegenerative disorders. The goal of this research project is to study two different human LSD fibroblast cell lines (Gaucher disease and mucopolysaccharidosis type I) before and after stimulation of TFEB, comparing lysosomal and mitochondrial function and content.
  • Learning, cognitive and developmental disturbances caused by metabolic diseases. A master thesis of two medical students (University of Antwerp) about the executive functioning of patients with intoxication type of metabolic diseases is almost finalized.

Specific Treatmens and Interventions:

– Follow-up of psychomotor development, on the age of 1; 2,5; 5; 8; 11; 16 years old, and on demand of if indicated on other moments.
– Coordination of treatments necessary to stimulate development such as psychomotor treatment, revalidation, speech therapy, autism coach, and help in referral to special needs school if indicated.
– Diagnosis, follow-up and management of psychiatric manifestations or comorbidity of the metabolic disease.
– Psychotherapy, individual (children and adults), family or parents, for psychological problems related to the metabolic disease.
– Support of parents by Triple P (Positive Parenting Program) adapted for children with a chronic disease or Stepping Stones (Parenting Program for children with a severe psychomotor retardation).
– Psychopharmacological treatment on indication.
– Psycho-education of the children about their disease in the form of a group therapy and manual developed by CEMA – UZA.
– Psycho-education and support for teachers in the management of the aspects of the metabolic diseases relevant for the school.
– Family gatherings about specific topics such as motivation to continue and good follow-up of the treatment, eating problems in children, social aspects of the metabolic disease,…
– ACT (Acceptance and Commitment Therapy) group therapy for adolescents and adults, focused on coping with a chronic diseases.
– Co – consultations with dieticians if feeding or eating problems are reported.
– For adult patients guidance in the transition from care in the child department to internal medicine.
– Every three years the organization, in close collaboration with the patients organization, of a symposium for patients and their relatives around different subjects of chronic and metabolic diseases
The aim is to help the affected individual to achieve optimal development during childhood and maximal independence, social integration, and self-esteem as an adolescent and adult.

Fran├žois Eyskens

University Hospital of Antwerp, Center of Inherited Metabolic Diseases, Belgium