(layman's term not used by patient groups metabolic disease not applicable)
Conditions
Interventions
None listed
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
16 Years to 99 Years
Inclusion criteria
Inclusion criteria: (see Protocol C1. page 10-11, paragraph 4.2 Inclusion criteria) - Age >= 16 years. - Written informed consent. - Cases: capacitated and incapacitated patients with a rare inherited metabolic disease, who are in care at UMCs and satellite expert centers. - Controls: healthy siblings and/or unrelated neighbors/ friends/ partners of the patients selected via the cases. List of diagnosis groups based on current patient population in the UMCs: - Urea cycle defects - Disorders of amino acid metabolism - Phenylketonuria - Homocystinuria - Glycogen overloading diseases - Mitochondropathy - Lysosomal overloading diseases - Fatty acid oxidation disorders - Disorders of glycosylation - Galactosemia - Peroxisomal disorders - Congenital hyperinsulinism - Porphyrias - Lipoprotein deficiencies - Disorders of vitamin metabolism - Disorders of glycosylation (CDG) - Rest of rare inherited metabolic diseases
Exclusion criteria
Exclusion criteria: (see Protocol C1. page 11) No signed 'informed consent' present.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| (also see: C1. Protocol, page 11, paragraph 5.1.1) A metabolic bio-database, with DNA, blood samples, urine samples, faeces samples and hair samples from patients with inherited metabolic diseases, combined with the clinical and physical data. | — |
Secondary
| Measure | Time frame |
|---|---|
| (also see: C1. Protocol, page 11 and 12, paragraph 5.1.2) Clinical data: medication, history and symptoms, radiology data, other medical information such as endoscopies and surgery reports, and ECG. Disease specific or general questionnaires. Physical data: physical disabilities, neurological disorders, anthropometry, blood pressure, eye-hand coordination, activity level and pain level, and fundus. | — |
Countries
Netherlands
Outcome results
None listed