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

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ClinicalTrials.gov Identifier: NCT01711606
Recruitment Status : Terminated
First Posted : October 22, 2012
Last Update Posted : March 3, 2016
Information provided by (Responsible Party):
Novartis ( 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

Condition or disease
Fragile-X Syndrome

Study Type : Observational
Actual Enrollment : 75 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Study Start Date : March 2013
Primary Completion Date : January 2016
Study Completion Date : January 2016

Resource links provided by the National Library of Medicine

U.S. FDA Resources

unselected Fragile-X patients

Primary Outcome Measures :
  1. Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status) [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. Epidemiology data on Fragile X Syndrome (FXS) [ Time Frame: 3 years ]
  2. Health-economic parameters and consumption of resources [ Time Frame: 3 years ]
  3. Therapeutic interventions and their application rationale [ Time Frame: 3 Years ]
  4. Psychosocial parameters (poss. also inclusion of family members, caregivers) [ Time Frame: 3 years ]
  5. Quality of life of the caregiver and possibly the patient [ Time Frame: 3 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with fragile-X Syndrome

Inclusion Criteria:

  • Patients with FXS as confirmed by genetic testing

Exclusion Criteria:

  • Other protocol-defined inclusion/exclusion criteria may apply

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01711606

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

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Novartis Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01711606     History of Changes
Other Study ID Numbers: CAFQ056BDE-EPI-01
First Posted: October 22, 2012    Key Record Dates
Last Update Posted: March 3, 2016
Last Verified: March 2016

Keywords provided by Novartis ( Novartis Pharmaceuticals ):
Fragile-X Syndrome
non-interventional trial
patient-related outcome study
drug utilization
treatment patterns
patient characteristics under real life conditions
quality of life

Additional relevant MeSH terms:
Fragile X Syndrome
Mental Retardation, X-Linked
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