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| Item Type: | Article |
|---|---|
| Title: | EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome |
| Creators Name: | Haessler, F. and Gaese, F. and Colla, M. and Huss, M. and Kretschmar, C. and Brinkman, M. and Schieb, H. and Peters, H. and Elstner, S. and Pittrow, D. |
| Abstract: | BACKGROUND: Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany. METHODS/DESIGN: EXPLAIN is a prospective, observational, longitudinal registry with a non-probability sampling approach. It collects data on patient characteristics, therapeutic interventions, psychosocial parameters (including those of family members and caregivers), quality of life of caregiver and patient, caregiver burden, and health economic parameters, such as hospitalisation time. It is designed to include data from 300 patients in ambulatory care from about 50 centres that employ psychiatrists, paediatricians, neurologists, and other relevant specialists, in Germany. The study was initiated in March, 2013. Patients will be followed for at least two years. DISCUSSION: The registry is expected to provide much-needed data on the characteristics and management of patients with FXS in Germany. It will also allow comparisons with other countries, and will enable gap analyses based on current guidelines for management of these patients. TRIAL REGISTRATION: The ClinicalTrials.gov identifier is NCT01711606. |
| Keywords: | Observational Trial, Longitudinal, Patient-Related Outcomes, Health Care, Outcomes, Ambulatory Setting, Quality of Life, Caregiver Burden |
| Source: | BMC Psychiatry |
| ISSN: | 1471-244X |
| Publisher: | BioMed Central |
| Volume: | 13 |
| Number: | 1 |
| Page Range: | 339 |
| Date: | 19 December 2013 |
| Official Publication: | https://doi.org/10.1186/1471-244X-13-339 |
| PubMed: | View item in PubMed |
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