Fragile-X SyndromeEXPLAINNCT01711606
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
An observational study of Fragile-X Syndrome, run by Novartis Pharmaceuticals at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fragile-X Syndrome
- How many people
- 75 participants
- Where
- 1 siteGermany
- Study dates
- Mar 2013to Jan 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with fragile-X Syndrome
Who may be able to join
- Patients with FXS as confirmed by genetic testing
Who cannot join
- none
- Other protocol-defined inclusion/exclusion criteria may apply
Trial locations and contacts
1 site in 1 country.
About this study
Official title: EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
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
- 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
- Medical subject headings
- Fragile X Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| unselected Fragile-X patients | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)
Measured: 3 years
Secondary outcomes (5)
Epidemiology data on Fragile X Syndrome (FXS)
Measured: 3 years
Health-economic parameters and consumption of resources
Measured: 3 years
Therapeutic interventions and their application rationale
Measured: 3 Years
Psychosocial parameters (poss. also inclusion of family members, caregivers)
Measured: 3 years
Quality of life of the caregiver and possibly the patient
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2012 (estimated)
- Study startMar 2013
- Primary completionJan 2016
- Study completionJan 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Fragile-X SyndromeStudies of the same condition, open and under way.
- More trials run by Novartis PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 75 participants (actual)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Frank Hässler, MD, Principal investigator, Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01711606
- Sponsor's protocol ID
- CAFQ056BDE-EPI-01
- Acronym
- EXPLAIN
- Status last verified
- Mar 2016
- First submitted
- 18 Oct 2012
- Last updated
- 3 Mar 2016
- Results posted
- No
Publications
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.
PubMed 27612457Haessler 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.
PubMed 24354947
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
- ClinicalTrials.gov ID
- NCT01711606
- Acronym / sponsor ID
- EXPLAIN / CAFQ056BDE-EPI-01
- 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
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 75 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Mar 2013
- Primary completion
- Jan 2016 (actual)
- Study completion
- Jan 2016 (actual)
- First posted
- 22 Oct 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| unselected Fragile-X patients | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with fragile-X Syndrome
Key inclusion criteria (1 listed)
- Patients with FXS as confirmed by genetic testing
Key exclusion criteria (2 listed)
- none
- Other protocol-defined inclusion/exclusion criteria may apply
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)
Time frame: 3 years
5 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
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Mar 2016.
- Derived from this study: PubMed 27612457Haessler 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.
- Derived from this study: PubMed 24354947Haessler 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Frank Hässler, MD principal investigator
Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fragile-X Syndrome, run by Novartis Pharmaceuticals at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 3 Mar 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early. Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status) (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01711606, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Mar 2016.