European network and registry for homocystinurias and methylation defects - Patient registry (E-HOD Registry)
The E-HOD project aims to improve the health of children, adolescents, and adults affected by homocystinuria, methylation, and remethylation disorders. Since 2013, the E-HOD registry has collected information on the natural history, effects of treatments, outcomes and complications in individuals with one of the homocystinurias, methylation or remethylation disorders. The E-HOD registry has expanded from an initially European to a worldwide registry, including data from over 80 collaborating centres across Austria, Belgium, Brazil, Switzerland, Colombia, Czech Republic, Germany, Denmark, Spain, France, United Kingdom, Greece, Croatia, Hungary, Ireland, Iran, Italy, Netherlands, Poland, Portugal, Turkey, Taiwan and the United States of America. Physicians have entered patient data for over 800 patients as of 2025. After entering baseline data, at least one follow-up visit per patient per year is documented.
Study design
Cohort, Cohort - clinical, Registry
Number of participants at first data collection
805 (participants as of 2025)
Recruitment is ongoing
Age at first data collection
Varied (participants)
Participant year of birth
Varied (participants)
Participant sex
All
Representative sample at baseline?
No
Sample features
Countries
Year of first data collection
2013
Primary Institutions
University Hospital Heidelberg (Universitätsklinikum Heidelberg)
Profile paper DOI
Not available
Funders
European Union (EU)
Ongoing?
Yes
Data types collected
- Computer, paper or task testing (e.g. cognitive testing, theory of mind doll task, attention computer tasks)
- Physical or biological assessment (e.g. blood, saliva, gait, grip strength, anthropometry)
- Secondary data
- Self-report questionnaire – online
- None
- Magnetic Resonance Imaging (MRI)
- Healthcare data
- Medical birth registry
Engagement
Keywords
