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An international, multicenter, epidemiological observational study aims to investigate the prevalence of genetic etiologies in patients diagnosed with FTD or clinically suspected for FTD.
Frontotemporal dementia (FTD) is a genetically and pathologically heterogeneous neurodegenerative disease caused by the loss or damage of nerve cells in the brain's frontal and temporal lobes. This leads to abnormalities in behaviour, personality, and language comprehension problems. Also, people with FTD show movement disorders like tremor, rigidity, difficulty in coordination, muscle spasms and weakness. FTD's etiology is sporadic or heritable. Sixty to 70% of FTD cases are sporadic, while 30 to 40% are inherited (familial aggregation). For this study, blood samples were collected from clinically diagnosed or suspected FTD patients and were analysed for a broad range of pathogenic variants in genes associated with FTD. The scientific insights acquired from this study will help identify novel therapeutic targets and develop/ investigate potential disease-modifying drugs.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants diagnosed with Frontotemporal Dementia | Participants diagnosed with Frontotemporal Dementia |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic Screening | Diagnostic Test | Blood samples will be collected from clinically diagnosed or suspected FTD patients and will be analysed for a broad range of pathogenic variants in genes associated with FTD. |
| Measure | Description | Time Frame |
|---|---|---|
| To investigate the prevalence of genetic etiologies in FTD by genotyping FTD participants/ FTD suspected participants | 15 months |
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Inclusion Criteria:
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Participants diagnosed with Frontotemporal Dementia (FTD) and participants clinically suspected for FTD
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| Name | Affiliation | Role |
|---|---|---|
| Peter Bauer, Ph.D | Centogene GmbH | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| AZ Damiaan | Ostend | West Flanders | 8400 | Belgium | ||
| CHU de Liege |
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Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
| Liège |
| 4000 |
| Belgium |
| Hanau Hospital | Hanau | Hesse | 63450 | Germany |
| Gertrudis Klinik | Leun | Hesse | 35638 | Germany |
| University Hospital Dresden | Dresden | Saxony | 01307 | Germany |
| University Medical Center Hamburg Eppendorf | Hamburg | Schleswig-Holstein | 20246 | Germany |
| University of Lübeck | Lübeck | Schleswig-Holstein | 23562 | Germany |
| RWTH Aachen University | Aachen | 52074 | Germany |
| Hochtaunus-Kliniken gGmbH | Bad Homburg | 61352 | Germany |
| AGZ of Charite Universitätsmedizin Berlin | Berlin | 12200 | Germany |
| University Hospital Cologne | Cologne | 50937 | Germany |
| Asklepios Klinik Nord - Ochsenzoll | Hamburg | 22419 | Germany |
| University Hospital Rostock | Rostock | 18057 | Germany |
| Mediterraneo Hospital | Athens | 16675 | Greece |
| University of Ioannina | Ioannina | 45110 | Greece |
| Università degli studi Gabriele D'Annunzio Chieti-Pescara | Chieti | 66100 | Italy |
| Azienda Ospedaliera Universitaria Federico II di Napoli | Naples | 80131 | Italy |
| Azienda Ospedaliero-Universitaria di Parma | Parma | 43126 | Italy |
| Azienda USL-IRCCS of Reggio Emilia | Reggio Emilia | 42121 | Italy |
| Hospital Garcia de Orta | Almada | 2805-267 | Portugal |
| Unidade Psiquiatrica Privada de Coimbra | Coimbra | 3000-606 | Portugal |
| Hospital da Senhora da Oliveira Guimaraes | Guimarães | 4835-044 | Portugal |
| Hospital Beatriz Ângelo | Loures | 2674-514 | Portugal |
| Hospital Pedro Hispano | Matosinhos Municipality | 4464-513 | Portugal |
| CNS - campus neurológico Torres Vedras | Torres Vedras | 2560-280 | Portugal |
| Hospital Universitari vall D´hebron | Barcelona | 08035 | Spain |
| Universitary Hospital La Princesa | Madrid | 28006 | Spain |
| Hospital Clinico San Carlos | Madrid | 28040 | Spain |
| Hospital Universitario 12 de Octubre | Madrid | 28041 | Spain |
| Clinica Universidad de Navarra | Pamplona | 31008 | Spain |
| Marqués de Valdecilla University Hospital | Santander | 39011 | Spain |
| Baskent University | Ankara | 06100 | Turkey (Türkiye) |
| Hacettepe University | Ankara | 06100 | Turkey (Türkiye) |
| Koç University Hospital | Istanbul | 34010 | Turkey (Türkiye) |
| Istanbul University | Istanbul | 34080 | Turkey (Türkiye) |
| Bezmialem Vakif University | Istanbul | 34093 | Turkey (Türkiye) |
| Izmir Economy University Medikalpark Hospital | Izmir | 35575 | Turkey (Türkiye) |
| ID | Term |
|---|---|
| D057180 | Frontotemporal Dementia |
| ID | Term |
|---|---|
| D057174 | Frontotemporal Lobar Degeneration |
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D057177 | TDP-43 Proteinopathies |
| D019636 | Neurodegenerative Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
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