Rare but treatable diseases in adults and adolescents in emergency medicine
Conditions
Interventions
Group 1: The study is based on RD that are still undiagnosed in adolescents and adults (aged 16 and over) and which
a) lead to acute or severe symptoms, so that affected patients present to the emerg
Sponsors
Zentrale Notaufnahme und Aufnahmestation Charité - Universitätsmedizin Berlin am Campus Benjamin Franklin
Eligibility
Sex/Gender
All
Age
16 Years to No maximum
Inclusion criteria
Inclusion criteria: Informed patient consent and, for minors, additional consent from a legal representative. Diagnosis of one of the following rare diseases: - Porphyria - Thrombotic thrombocytopenic purpura - Hereditary angioedema - Familial Mediterranean fever - Fabry disease - Urea cycle defects - Paroxysmal nocturnal haemoglobinuria - Fatty acid oxidation defects - Myasthenia Gravis - Hereditary haemorrhagic telangiectasia
Exclusion criteria
Exclusion criteria: Premature termination of survey. No informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Capture and characterise common characteristics of rare disease patients in emergency departments. | — |
Secondary
| Measure | Time frame |
|---|---|
| Create a scientific basis on which recommendations for identifying patients aged 16 and over with rare but treatable diseases in the emergency department could be developed, based on the "variables" (such as symptom and patient characteristics) that may be identified. | — |
Countries
Germany
Contacts
Public ContactEva Diehl-Wiesenecker
Zentrale Notaufnahme und Aufnahmestation, Campus Benjamin Franklin
Outcome results
None listed