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BEAWARE - Survey of patients with selected rare diseases to identify essential and generally valid patient characteristics and relevant symptoms of patients with rare diseases in the emergency department

Conditions
Rare but treatable diseases in adults and adolescents in emergency medicine
Registration Number
DRKS00033032
Lead Sponsor
Zentrale Notaufnahme und Aufnahmestation Charité - Universitätsmedizin Berlin am Campus Benjamin Franklin
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Complete
Sex
All
Target Recruitment
151
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

Premature termination of survey.
No informed consent.

Study & Design

Study Type
observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Capture and characterise common characteristics of rare disease patients in emergency departments.
Secondary Outcome Measures
NameTimeMethod
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.
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