Austrian Epidermolysis Bullosa Registry (Austria)

Field Names
Records
Coordinating Country
Austria
Region

Austria

Brief Database Description

The Austrian Epidermolysis Bullosa Registry is a collection of demographic data of patients that were treated on site. It includes mutation data since 2017; however, no clinical data on disease progression are currently collected.  

Database Type
Registry
- Birth defect registry

(Epidermolysis Bullosa = EB)

Database Source
Hospital Records
Frequency of Data Collection
Other

(At initial visit)

Frequency of Data Update
Other

(Once)

Years Covered
2017 - Present
Population Type
Outpatient/Non-Institutionalized

(All age groups)

Patient Type
Outpatient/Non-Institutionalized
Date of Last Update
Ongoing

The Austrian Epidermolysis Bullosa Registry is updated on an ongoing basis.
This profile was developed for the B.R.I.D.G.E. TO DATA site on January 8, 2024.

Field Names
Records
Database Population Size
<200,000
Active Population Size
<200,000
Annual Change in Population
Approximately 10 new entries per year
Sample Weights - Extrapolation Factors
No
Final Population Size
N/A

(Not applicable as data are still being collected)

Field Names
Records
Age of Patients at Data Collection
Yes

DOB is collected

Approximate Percentage of Participants <18 years and those >65 years

< 18 years = 40%
> 65 years = 5%

(Estimation based on current data)

Gender Data
Yes
Percentage of Males/Females

Males = 50%
Females = 50%

Ethnicity / Race Data
No
Geographic Location

Austria
NOTE: The database does not have any GIS capabilities, and no information on access to care is recorded.

Date of Birth Recorded
Yes

(Date/Month/Year)

Death Recorded
Yes

Death is recorded; however, no further details are available.

Availability of death certificate / autopsy information
No
Other Demographic Data
No
Field Names
Records
Physician ID
No
Physician Specialty
No

They have fixed staff that solely sees EB patients

Pharmacy ID
No
Field Names
Records
Diagnosis Data
Yes

Information is available on mutation data.
NOTE: The registry does not list information on family members unless they also are affected by the disease and known to the center as patients. (i.e., a patient with a recessive form is listed but his/her parents, who each carry one of the mutations inherited to the child, are not listed, as they are not affected.)

Diagnoses Coded
ICD-10

ORPHAcode
[Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems. Each disease in Orphanet is attributed a unique and stable identifier, the ORPHAcode. Orphanet uses the European definition of a rare disease, as defined by the European Union Regulation on Orphan Medicinal Products (1999), that being a disease that affects not more than 1 person per 2000 in the European population. Orphanet has exact codes for more than 6,000 diseases, whereas the currently used ICD-10 classification of diseases has only approximately 350 such codes for rare diseases. This has severely limited the identification of persons with a rare disease in healthcare registers.]

Diagnoses: Date Parameters
N/A

(Not applicable)

Diagnoses: Maximum Number of Codes Allowed
1
Physical Examination Findings
No
Birth Defect Data
Yes

Since EB is a genetic disease and present since birth

Cancer Data
No
Infectious Disease Data
No
Environmental Exposures
No
Behavioral Data Elements
No
Field Names
Records
Procedure Data
No
Procedures Coded
N/A

(Not applicable)

Number of Procedures Coded
N/A

(Not applicable)

Procedure Date Parameters
N/A

(Not applicable)

Laboratory Information
N/A

(Not applicable)

Field Names
Records
Drug Data
No
Drug Date Parameters
N/A

(Not applicable)

Drug Regimen & Route
N/A

(Not applicable)

Drug Manufacturer
N/A

(Not applicable)

Drug Dosage
N/A

(Not applicable)

Drug Days Supply
N/A

(Not applicable)

Drug Coding System: Maximum Number
N/A

(Not applicable)

Drug Coding System: Primary
N/A

(Not applicable)

Drug Coding System: Other
N/A

(Not applicable)

Drug Generic Name
N/A

(Not applicable)

Drug Additional Information
N/A

(Not applicable)

Field Names
Records
Biobank Type
N/A
Human Specimen
N/A
Blood Type
N/A
Biomarkers
N/A
Patient ID
N/A
Number of Samples
N/A
Frequency of Sample Collection
N/A
Pre-diagnostic Sample Collection
N/A
Post-treatment Sample Collection
N/A
Method of Sample Collection
N/A
Age at Sample Collection
N/A
Date of Sample Collection
N/A
Reason for Sample Collection
N/A
Method of Sample Storage
N/A
Length of Sample Storage
N/A
Pathology
N/A
DNA Isolation
N/A
RNA Isolation
N/A
Cell Culture
N/A
Genetic Testing
N/A
Access for Research: Specimens
N/A
Access for Research: Genetic Data
N/A
Access for Research: Epidemiologic Data
N/A
Quality Assurance Procedures
N/A
Family History
N/A
Medical History
N/A
Biobank Linkage
N/A
Field Names
Records
Type of Genetic Database
N/A
Source of Genetic Data
N/A
Specimen Genotyped
N/A
Tissue Form
N/A
Genetic Template
N/A
Gene-Drug Response
N/A
Gene-Disease Relationship
N/A
Gene-Health Outcome Relationship
N/A
Gene-Environment Response
N/A
Method of Imputing Genetic Data
N/A
Genetic Variant Identification
N/A
Genetic Data Level
N/A
Genotyping Method
N/A
Method of Genetic Variant Filtering
N/A
Haplotypes
N/A
Haplogroups
N/A
Variable Number of Tandem Repeats (VNTR)
N/A
Single Nucleotide Polymorphisms (SNPs)
N/A
Variant Type
N/A
Variant Class
N/A
Mutation Indicated
N/A
Position
N/A
Amino Acid Change
N/A
Genotype / Polymorphism
N/A
Allele Frequency
N/A
Linkage Disequilibrium (r²)
N/A
Noncarriers Indicated
N/A
Association Statistics
N/A
Genetic Relatedness Pairing
N/A
Data Sharing: Genetic Data
N/A
Access for Research
N/A
Genetic Data Linkage
N/A
Description of Genetic Data Linkage
N/A
Field Names
Records
Cost Data
No
Cost Denomination
N/A

(Not applicable)

Type of Cost Data
N/A

(Not applicable)

Surrogate Cost Data Link
N/A

(Not applicable)

Description of Surrogate Link
N/A

(Not applicable)

Field Names
Records
Data Validation Against Original Source
Yes

Data are validated at the end of the year of entry by cross-checking with medical records

Access to Medical Records
No
Linkage to Other Databases
No

There is no data linkage. The database does not have OMOP conversion capabilities; nor does it have tokenization capabilities.

Brief Description of Linkage Capabilities

N/A

(Not applicable)

Field Names
Records
Database Contact Data

EB House Austria
Sophie Kitzmueller
Muellner Haupstraße 48
AUSTRIA
Email: s.kitzmueller@salk.at

Website
N/A

(Not applicable - they do not have a website)

Alternate Contact

EB House Austria
Martin Laimer
Muellner Haupstraße 48
AUSTRIA
Email: m.laimer@salk.at

Source of Database Funding
Private

The register is funded by a patient organization

Sponsoring Government Agency
N/A

(Not applicable)

Sponsoring Pharmaceutical Manufacturer

N/A

(Not applicable)

Database Usage Restrictions
Private Access

There is no access to specific data such as medical records, but data excerpts can be requested via contact persons mentioned above.
NOTE: All data are available in the English lanuguage.

Charge for Database Usage
No
Data Media Format
Excel / CSV
Text files
Number of Publications Using Database
N/A

(Not applicable as there are no publications to date)

References of Studies Using/Describing Database

N/A

(Not applicable; however, you may reach out to the contact persons for any posters, abstracts, or papers.)

Database Contact
Database Contact Data

EB House Austria
Sophie Kitzmueller
Muellner Haupstraße 48
AUSTRIA
Email: s.kitzmueller@salk.at

Alternate Contact

EB House Austria
Martin Laimer
Muellner Haupstraße 48
AUSTRIA
Email: m.laimer@salk.at

References of Studies Using/Describing Database

N/A