A Study to Assess the Natural History and Routine Clinical Management of Congenital Disorders of Glycosylation
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Sponsor Protocol Number: Clin800-401
About this study
The purpose of this study is to collect natural history and treatment-related data of patients diagnosed with congenital disorders of glycosylation.
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
- Patients diagnosed with:
- PGM1-CDG, MPI-CDG, or SLC35C1-CDG based on clinical and/or genetic testing (if available) and confirmed by the treating physician;
- Another CDG but being treated with D-galactose, D-mannose and L-fucose based on clinical and/or genetic testing (if available).
- Availability of the medical record to collect patients’ retrospective data on natural history and/or hexose treatment (and/or normal standard of care) for disease treatment and management.
- Signed informed consent by patients, patient’s parent(s)/legally acceptable representative(s). In addition, signed children’s assent form according to local requirements.
- Data from deceased patients can be included if allowed by the Health Authority and consent will be sought from relatives if mandatory per country law/requirement.
Exclusion Criteria:
More information
Publications
Publications are currently not available