Work Package 1
Title of Work Package: Standardized patient registry and natural history study
Objectives: WP1 is devoted to building an internationally harmonized patient registry for NBIA patients. Up to this point, only small local databases involving NBIA have existed; this has created large research obstacles in rare diseases such as NBIA. Together with the joint biobank (WP2), the standardized collection of patient data will provide the opportunity to overcome fragmentation of local patient collections and enable formation of large cohorts to catalyze basic and clinical research in the field.
- Technical set-up of the registry; The registry database will be set up at the Institute for Medical Statistics and Epidemiology of the TUM-MED. It will be based on components successfully used in the German rare disease registry mitoNET.
- Setup of biometric concept; a statistical strategy will be accommodated separately for each analysis
- Data acquisition and storage; NBIA patients from the clinical trial (WP4) as well as outside patients (after NBIA has been confirmed by imaging or molecular fiindings) will be included in the registry. Asymptomatic mutation carriers are also eligible.
March 15, 2016, NBIA Patient registry is progressing successfully: The total number of visit entries in the NBIA patient registry amounts now to 293 entered patients and 169 follow-ups. Further entries are planned.