Six Dutch metabolic academic centers and the Dutch umbrella patient organization VKS have joined forces in order to improve future perspectives of inherited metabolic disease patients and their families.
Inherited metabolic diseases are often recognized (too) late or sometimes not recognized at all. The UMD medical doctors, researchers and laboratory specialists are committed to improve, accelerate and expedite diagnosis and provide the best care for children and adults with an inherited metabolic disease.
Together we can do great things with respect to diagnosis, care and therapy
UMD objectives:
- Diagnose patients as rapidly and early as possible
- Discover novel inherited metabolic diseases
- Delineate natural history and disease outcomes, required for accurate prognosis
- Improve existing treatment and monitoring strategies
- Identify novel therapeutic targets and biomarkers
- Perform clinical trials and evaluate outcomes
- Increase awareness of inherited metabolic diseases through education and knowledge dissemination
UMD themes:
Different themes have been defined to achieve these objectives. These themes are driven by different coordinators.
- Care
- Diagnostics
- Disease Mechanisms
- Therapy
- Clinical trials and outcome
- Education & awareness
- Administration and governance
UMD is all about the patient
The activities undertaken in order to achieve our goals are visualized in the metabolic catalyst wheel. The patient can be included in any phase of the program.
This involves patients:
- Without a diagnosis
- With a known inherited metabolic disease but atypical phenotype
- With a known inherited metabolic disease but unclear prognosis / disease course
- With a diagnosed inherited metabolic disease, but without treatment
- With a treatment but with insufficient effects
The further the patient moves through the metabolic catalyst wheel, the greater the chance that he/she moves towards customized treatment and care.
The Metakids Foundation facilitated the establishment of the UMD with revenues from the ‘VriendenLoterij Prijzenmarathon’ in 2018 and will do so for at least the next 5 years. In addition, the Metakids Foundation and the UMD will collectively and separately raise additional funding to maintain and further develop UMD into a sustainable collaboration.
