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

This study is currently recruiting participants.
Verified January 2014 by Novartis
Sponsor:
Information provided by (Responsible Party):
Novartis ( Novartis Pharmaceuticals )
ClinicalTrials.gov Identifier:
NCT01711606
First received: October 18, 2012
Last updated: January 14, 2014
Last verified: January 2014
  Purpose

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

Condition
Fragile-X Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes

Resource links provided by NLM:


Further study details as provided by Novartis:

Primary Outcome Measures:
  • Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status) [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Epidemiology data on Fragile X Syndrome (FXS) [ Time Frame: 3 years ] [ Designated as safety issue: No ]
  • Health-economic parameters and consumption of resources [ Time Frame: 3 years ] [ Designated as safety issue: No ]
  • Therapeutic interventions and their application rationale [ Time Frame: 3 Years ] [ Designated as safety issue: No ]
  • Psychosocial parameters (poss. also inclusion of family members, caregivers) [ Time Frame: 3 years ] [ Designated as safety issue: No ]
  • Quality of life of the caregiver and possibly the patient [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 300
Study Start Date: April 2013
Estimated Study Completion Date: February 2015
Estimated Primary Completion Date: February 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
unselected Fragile-X patients

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with fragile-X Syndrome

Criteria

Inclusion Criteria:

  • Patients with FXS as confirmed by genetic testing

Exclusion Criteria:

  • none
  • Other protocol-defined inclusion/exclusion criteria may apply
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01711606

Contacts
Contact: Marc Brinkman +49 911 273 12102

Locations
Germany
Novartis Investigative site Recruiting
Nuremberg, Germany
Contact: Marc Brinkman         
Sponsors and Collaborators
Novartis Pharmaceuticals
Investigators
Principal Investigator: Frank Hässler, MD Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock
  More Information

No publications provided by Novartis

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Novartis ( Novartis Pharmaceuticals )
ClinicalTrials.gov Identifier: NCT01711606     History of Changes
Other Study ID Numbers: CAFQ056BDE-EPI-01
Study First Received: October 18, 2012
Last Updated: January 14, 2014
Health Authority: Germany: Ethics Commission
Germany: Federal Institute for Drugs and Medical Devices

Keywords provided by Novartis:
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

Additional relevant MeSH terms:
Mental Retardation, X-Linked
Fragile X Syndrome
Mental Retardation
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System

ClinicalTrials.gov processed this record on April 17, 2014