Clinical trial NCT01711606: EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Official title: EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Fragile-X Syndrome
Keywords: Fragile-X Syndrome
registry
non-interventional trial
patient-related outcome study
drug utilization
effectiveness
treatment patterns
patient characteristics under real life conditions
quality of life
economics
Lead sponsor: Novartis
Sponsor class: INDUSTRY
First posted: 2012-10-22
Enrollment: 75
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with fragile-X Syndrome

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


Eligibility criteria: Inclusion Criteria:

* Patients with FXS as confirmed by genetic testing

Exclusion Criteria:

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

Primary outcomes:
measure: Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)
timeFrame: 3 years
Secondary outcomes:
measure: Epidemiology data on Fragile X Syndrome (FXS)
timeFrame: 3 years
measure: Health-economic parameters and consumption of resources
timeFrame: 3 years
measure: Therapeutic interventions and their application rationale
timeFrame: 3 Years
measure: Psychosocial parameters (poss. also inclusion of family members, caregivers)
timeFrame: 3 years
measure: Quality of life of the caregiver and possibly the patient
timeFrame: 3 years
Other outcomes:
Locations:
city: Nuremberg
country: Germany
facility: Novartis Investigative site
Study officials:
affiliation: Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock
name: Frank Hässler, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Haessler F, Gaese F, Huss M, Kretschmar C, Brinkman M, Peters H, Elstner S, Colla M, Pittrow D. Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study. BMC Psychiatry. 2016 Sep 10;16(1):318. doi: 10.1186/s12888-016-1020-5.
citation: Haessler F, Gaese F, Colla M, Huss M, Kretschmar C, Brinkman M, Schieb H, Peters H, Elstner S, Pittrow D. EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome. BMC Psychiatry. 2013 Dec 19;13:339. doi: 10.1186/1471-244X-13-339.