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

Novartis Pharmaceuticals75 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Fragile-X Syndrome

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Patients with FXS as confirmed by genetic testing Exclusion Criteria: * none * Other protocol-defined inclusion/exclusion criteria may apply

Locations (1)

Novartis Investigative site

Nuremberg, Germany

Outcomes

Primary Outcomes

Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)

Time frame: 3 years

Secondary Outcomes

Epidemiology data on Fragile X Syndrome (FXS)

Time frame: 3 years

Health-economic parameters and consumption of resources

Time frame: 3 years

Therapeutic interventions and their application rationale

Time frame: 3 Years

Psychosocial parameters (poss. also inclusion of family members, caregivers)

Time frame: 3 years

Quality of life of the caregiver and possibly the patient

Time frame: 3 years