All inborn error of metabolism as listed by the Inborn Errors of Metabolism Knowledgebase (https://iembase.org/).
Conditions
Interventions
Group 1: Examination of the clinical course and relevant laboratory, therapeutic, instrumental, and neuropsychological parameters. The parameters collected are consistent with current standard follow-
Sponsors
Universitätsklinikum Heidelberg
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Children and adults with confirmed diagnosis of any inherited metabolic disease. Written informed consent given by the patient, the parents or the legal representatives.
Exclusion criteria
Exclusion criteria: Individuals with rare and unrelated serious comorbidities: Down syndrome Intraventricular haemorrhage (°III-IV) Extreme low birth weight (<1,500 grams) Severe hyperbilirubinemia with Kernicterus Embryofetal alcohol syndrome Intake of teratogenic drugs during pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Epidemiology, diagnosis, clinical presentation, treatment, health outcomes and quality of life of individuals with inherited metabolic diseases in Europe and other countries around the world. Data from routine clinical follow-up of patients is recorded using the eCRFs of the registry. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Discrepancies between European countries and other countries around the world regarding diagnosis, treatment and long-term management of patients with inherited metabolic diseases. 2. Impact of age at diagnosis and mode of treatment on health outcomes. 3. Description of variant disease courses. | — |
Countries
Belgium, Brazil, Czechia, Denmark, France, Germany, Hungary, Italy, Latvia, Norway, Poland, Portugal, Slovenia, Spain, United Kingdom
Contacts
Public ContactStefan Kölker
Universitätsklinikum Heidelberg Zentrum für Kinder- und Jugendmedizin
Outcome results
None listed