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

This study is currently recruiting participants. (see Contacts and Locations)
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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
Syndrome
Fragile X Syndrome
Disease
Pathologic Processes
Intellectual Disability
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 September 18, 2014