Fragile-X Syndrome Clinical Trial
Official title:
EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to
evaluate characteristics, management and patient and caregiver-related outcomes the quality
of life of Families and patients with FXS and to collect epidemiological and health economic
data.
- EXPLAIN will report current and comprehensive data onEpidemiology data on fragile X
syndrome
- Characterisation of the phenotype of FXS patients
- Description of patient characteristics (demographics, family history, comorbidity,
education, working situations, care situations, insurance status)
- Documentation of therapeutic interventions
- Recording and assessment of psychosocial parameters (possibly also inclusion of family
members, carers)
- quality of life of the carer and if possible the patient
- Health economic parameters and consumption of resources
n/a
Observational Model: Cohort, Time Perspective: Prospective