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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| unselected Fragile-X patients |
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| Measure | Description | Time Frame |
|---|---|---|
| Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status) | 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| Epidemiology data on Fragile X Syndrome (FXS) | 3 years | |
| Health-economic parameters and consumption of resources | 3 years | |
| Therapeutic interventions and their application rationale |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with fragile-X Syndrome
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| Name | Affiliation | Role |
|---|---|---|
| Frank Hässler, MD | Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Novartis Investigative site | Nuremberg | Germany |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27612457 | Derived | 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. | |
| 24354947 |
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| ID | Term |
|---|---|
| D005600 | Fragile X Syndrome |
| ID | Term |
|---|---|
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
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| 3 Years |
| Psychosocial parameters (poss. also inclusion of family members, caregivers) | 3 years |
| Quality of life of the caregiver and possibly the patient | 3 years |
| 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. |
| D009422 | Nervous System Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D040181 | Genetic Diseases, X-Linked |
| D020271 | Heredodegenerative Disorders, Nervous System |