Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
The University Hospitals in Leueven has a long history of expertise for the diagnosis and care of patients with congenital disorders of glycosylation. This disorder was discovered in Leuven by Jaak Jaeken, who is still an adviser for the Metabolic team in Leuven. After the discovery of the new inborn error Leuven was the first metabolic center offering screening for COG. This was followed by a strong research line led by Prof Jaeken en Gert Matthis, molecular geneticist, who is also currently an active team lid of the metabolic team, and co-coordinator of our subnetwork. The research initiative from leuven resulted in a prestigious European grant, EUROGLYCAN, which focussed on disease discovery, pathomechanism and patient registry, followed by EUROGLYCANET, which resulted in a broad European collaboration, the diagnosis of more then 600 patients and the discovery of the first therapy in COG. This consurtium is still active, after 20 years, and currently working under the EURO-COG2 European grant on therapy development for patients with COG.
The team in Leuven works as an expert center for international patients since more then 20 years, with regular second opinions from many countries from Europe. The team organized the first World COG conference for scientists and care providers in Leuven participated in designing and reviewing the international COG association’s clinical information patient folder, translated to Dutch, gave Youtube teaching lessons and was part of creating the white board COG teaching video (https://youtu.be/WIS-ZKWgAcU and https://youtu.be/WIS-ZKWgAcU). The Leuven team has been playing an active role to teach colleagues on COG. This happens through regular video conferences, and 4-yearly “orphan courses” focussing on COG. The third World Conference for Parents and Patients with COG will also be organized next year in Leuven. The subnetwork coordinator, Dr Morava is a board member of the world COG association “COG CARE”, and responsible for the COG Newsletter. The team in Leuven is highly motivated in translational research on COG and focuses on bringing clinicians and basic scientists, involved in the biochemical genetics field, together.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
The suggested care has been discussed in both national and international platforms and we made a suggestion for the diagnostic tests, investigations and follow up from pediatric to adult age in COG patients.
(see also http://www.stofwisselingsziekten.nl/beheer/docs/zorgpad/zp_pat_212065.php)
In summary all patients belonging to the metabolic convention attend the clinics 2-4 times a year, depending on their age. Blood work, with focus on liver function, endocrine function, coagulation, and glycosylation abnormalities are controlled yearly. In COG these parameters might vary yearly, and lead to various, well treatable clinical problems. Other regular investigations include yearly opthalmology and cardiac control, neurology consults and follow up of bone density evaluation, with a high risk for osteoporosis above the pubertal age. An important part of the therapy is developmental support, physical therapy, revalidation and speech therapy. Our two metabolic psychologists focus on both developmental and behavioral evaluations, and if needed psychological family support. The social assistant secures the availability of family support, and financial safety. We have a kinesist at our outpatient clinics, who sees our patients yearly and gives suggestions for physical therapy and technical support possibilities. The metabolic dietician is also an essential part of the care, since most patient have a failure to thrive, or chronic gastrointestinal symptoms in COG. Many patients require tube feeding and special diet. Unfortunately, there are only effective therapies in two specific subtypes of COG (MPI- and PGMI-COG). These are dietary therapies, which need regular follow ups and blood controls at the outpatient unit. The team together with our nurse practitioner, who is organizing the team around the COG patient care, are all essential in adequate care and therapy.
Next to regular patient care we see many patients for second opinion. These patients come for a full evaluation to our center and we provide their clinician with written recommendations for their further care. EVA MORAVA University Hospitals Leuven, Department of Pediatrics, Division of Metabolic Disorders