Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Academic Medical Center Amsterdam
Amsterdam, NETHERLANDS
In the AMC, 3 metabolic expertise centers were endorsed by our ministry of Health Welfare and Sports:
- Center for lysosomal disorders (SPHINX, Amsterdam Lysosome Center)
- Center for peroxisomal disorders
- Center for metabolic disorders (PKU and galactosemia)
Common themes for these national reference centers are:
– Patient centered and multidisciplinary approach, sound transition procedures are in place.
– A close cooperation with national and international patient organisations.
– Participation in national and international guideline development
– Strong international position in patient care and research.
– A biobank has been implemented
Center for lysosomal disorders
The center for lysosomal disorders focusses on (sphingo)lipidoses and mucopolysaccharidoses. Clinical research in the AMC was started in 1989 with translational studies in Gaucher disease and broadened to the other LSDs. Since then, considerable expertise has been built up in the clinical care for these patients. Clinicians from the AMC have coordinated and participated in the development of national and international guidelines. Prof Hollak and Dr Langeveld are active members of the European working groups on Gaucher and Fabry disease and Prof Hollak is board member of the European Study Group on Lysosomal Diseases and serves as advisor for national and international governemnetal bodies. There is close collaboration with national and international patient societies. Radiological, laboratory and genetic assessments and research facilities are available at the AMC.
• Center for peroxisomal disorders
This center is mostly focussed on peroxisome biogenesis disorders – Zellweger syndrome spectrum, disorders in peroxisomal alpha, beta and omega oxidation (X-ALD) and Rhizomelic Chondrodysplasia Punctata (RCDP). There are initiatives to develop care standards in coorperation with patient societies. Prof Poll The and Dr Engelen have international coorperations such as The X ALD society, and yearly meetings with patient organisations.
• Center for metabolic disorders
The center for metabolic disorders focusses on galactosemia and PKU. Dr Bosch coordinated the development of the Dutch care path for galactosemia and the International Guideline for Galactosemia.. She is a member of the steering committee of the international GalNet, which enables international cooperation on patient care and research, and a registry. There is close cooperation with the Dutch, European and USA galactosemia patient societies. The AMC has a national multidisciplinary galactosemia expertise outpatient clinic. and conductsinternational basic and clinical research.
With respect to PKU, Dr Bosch coordinated the development of the Dutch care path for PKU and participated in development of European Guidelines for PKU.. She participates in the European PKU Society meetings and national patient associaltion meetings. She developed the e-health tool “My PKU” for patients. There is participation in national and international clinical research.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPS
- Center for lysosomal disorders: following international guidelines and extensive expertise, patients with lysosomal disorders can be offered specific therapies. Patients who are potentially eligible for treatment, as well as patients in whom stopping therapy is considered are thoroughly discussed within the so called ‘Indication Committee’ which is a multidisciplinary team with experts from different fields, e.g. cardiology, nephrology, neurology. SPHINX keeps a national database and biobank fro LSD’s. For Fabry disease, an international independent database has been developed in collaboration with members of the European Fabry Working Group. Infusion therapies are usually given in the home setting with the help of a home care team that works according to detailed protocols developed by the AMC experts. The center for lysosomal disorders has participated in many clinical trials on new treatements and will continue to do so when promising products or treatment schemes are studied.
- Center for peroxisomal disorders: Patients with X-ALD are evaluated frequently for the onset of adrenal failure. If adrenal failure is present, hormonal suppletion therapy is initiated and follow-up by an endocrinologist is part of the follow-up. MRI scans are performed yearly (or twice yearly in those under 12 years of age). In case of the occurrence of cerebral ALD, patients are referred for haematopoietic stem cell transplantation. There is currently no treatment to prevent the onset of of myelopathy (and peripheral neuropahy). Patients with myelopathy receive symptomatic treatment and are referred to a urologist and rehabilitation specialist if necessary.
For patients with ZSD there is no specific disease modifying treatment available. Patients with a ZSD are at risk for vitamin K deficiency due to poor intestinal absorption of fat soluble vitamins. This can cause severe coagulopathy. Vitamin K and laboratory tests are necessary. Also, follow-up of liver function is recommended. Referral for hearing aids and ophthalmological follow-up are also recommended. Most patients with a ZSD have limited mobility due to neurological deficits and can benefit from the expertise of rehabilitation physicians. - Center for metabolic disorders (PKU and galactosemia): Patients with galactosemia are treated with a galactose restricted diet. Treatment and follow up are according to the new International Galactosemia Guidelines which’ development has been coordinated by the AMC. Clinical studies explore residual galactose oxidation in patients to enable better outcome prediction.
Patients with PKU are treated with a protein restricted diet, supplementation of amino acid mixtures and BH4 if the patient is responsive. For Phe measurement patients send home – made bloodpots by mail to the lab, and receive results through their designated “My PKU” website. Treatment and follow up are according to international guidelines.
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