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The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| No Treatment | Collect pilot data on the performance of the ICARS in patients younger than 10 years of age, as well as to introduce definitions for the various clinically defined stages of AT, and attempt to develop descriptors of change that could help in the assessment of patients longitudinally. |
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| Measure | Description | Time Frame |
|---|---|---|
| Correlation Analysis | The primary outcome is validity of ICARS in children younger than 10 years of age (by comparing the mean scores and subscores between children aged 6-10 years of age to those aged 10-18 years of age). | single visit |
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Inclusion criteria
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Known patients with ataxia/ataxia telangiectasia
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| Name | Affiliation | Role |
|---|---|---|
| Luca Benatti, MD | Quince Therapeutics S.p.A. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Carol Morsani USF Health Center | Tampa | Florida | United States | |||
| Jaslok Hospital |
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| ID | Term |
|---|---|
| D001260 | Ataxia Telangiectasia |
| ID | Term |
|---|---|
| D020754 | Spinocerebellar Ataxias |
| D002524 | Cerebellar Ataxia |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
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| Mumbai |
| India |
| Edmond and Lilly Safra Childrens Hospital Pediatric Unit | Tel Litwinsky | Israel |
| Università La Sapienza | Roma | Italy | 00100 | Italy |
| A.O Spedalli Civilli Brescia | Brescia | Italy |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020752 | Neurocutaneous Syndromes |
| D001259 | Ataxia |
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D013684 | Telangiectasis |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000081207 | Primary Immunodeficiency Diseases |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D007153 | Immunologic Deficiency Syndromes |
| D007154 | Immune System Diseases |