An observational study for patients with ENPP1 and ABCC6 deficiency
Research type
Research Database
IRAS ID
342389
Contact name
Rosia Shah
Contact email
Research summary
A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients with ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)
REC name
London - South East Research Ethics Committee
REC reference
24/LO/0366
Date of REC Opinion
28 Jun 2024
REC opinion
Further Information Favourable Opinion
Data collection arrangements
Data will be entered onto the registry at least annually. The data entered into the registry will come from questionnaires answered by participants during clinical visits and from the participants medical records.
Data will be stored and maintained by the study sponsor Inozyme. The data will be store for at least 25 years after the study end or longer if applicable by law.
Third parties may apply for permission to access the data for research preposes. Access to the registry data will be assessed by a data transparency committee.Research programme
The purpose of the registry is to allow patients with ENPP1 and ABCC6 deficiency to contribute data relating to their disease to a database. ENPP1 and ABCC6 deficiency are very rare diseases with fewer than 200 documented cases in 1899. Therefore very little is know about theses diseases and the impact it has on patients. By participating in the database study, participants will contribute valuable natural history data which may help researchers in the future better understand the disease and develop future treatments.
Research database title
A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients with ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)
Establishment organisation
Virtual Clinical Trial Site (VCTC)
Establishment organisation address
10 Pear Tree Close
Hartshorne
Derbyshire
DE11 7AQ