EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes

Terminated

• Conditions: Fragile-X Syndrome

• Registration Number: NCT01711606
• Lead Sponsor: Novartis Pharmaceuticals

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2012-10-18
• Study First Submitted QC: 2012-10-19
• Study First Posted: 2012-10-22
• Study Start: 2013-03
• Primary Completion: 2016-01
• Study Completion: 2016-01
• Status Verified: 2016-03
• Last Update Submitted: 2016-03-02
• Last Update Posted: 2016-03-03

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 75

Inclusion Criteria

• Patients with FXS as confirmed by genetic testing

Exclusion Criteria

• none
• Other protocol-defined inclusion/exclusion criteria may apply

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)	3 years

Secondary Outcome Measures

Name	Time	Method
Therapeutic interventions and their application rationale	3 Years
Quality of life of the caregiver and possibly the patient	3 years
Health-economic parameters and consumption of resources	3 years
Epidemiology data on Fragile X Syndrome (FXS)	3 years
Psychosocial parameters (poss. also inclusion of family members, caregivers)	3 years

Trial Locations

Locations (1)

Novartis Investigative site; 🇩🇪 Nuremberg, Germany