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The aim of this study is to obtain an early biomarker of amyotrophic lateral sclerosis and Friedreich's Ataxia which allows to diagnose the disease in an initial stage and to follow up the patient with optic coherence tomography, a fast, non-invasive and comfortable method
All patients will be asked about their data and their general medical history, and will be underwent on one hand, a complete neurological examination including the degree of neurological impairment quantified according to the functional rating scale of ALS (ALSFRS-r) or Scale for the assessment and rating of ataxia (SARA); On the other hand, they will have a complete ophthalmological examination too, including the patient's graduation, pupillary and ocular motility examination, biomicroscopy, Goldman tonometry and fundus exam. Patients will be performed too a conventional automated Humprey perimetry, color test (Farnsworth-Munsell 28 Hue Color Vision Test) and finally an optical coherence tomography (OCT) in order to see possible anatomical alterations in both macula and optic nerve. The follow-up of these explorations will be repeated in all cases at 6 months.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ALS patients | |||
| Friedreich Ataxia patients | |||
| Healthy control |
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| Measure | Description | Time Frame |
|---|---|---|
| early biomarker of amyotrophic lateral sclerosis and Friedreich's Ataxia | macular, ganglion cell layer and retinal nerve fiber layer thickness measure | change from baseline to 6 month |
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Inclusion Criteria:
Exclusion Criteria:
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Amyotrophic lateral sclerosis patients Friedreich's ataxia patients Healthy volunteers
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Pilar Rojas, MD | Contact | +34616042758 | pilar.rojas.lozano@gmail.com |
| Name | Affiliation | Role |
|---|---|---|
| Jose L Urcelay, PhD | HGU Gregorio Marañón | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Pilar Rojas Lozano | Recruiting | Madrid | 28010 | Spain |
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| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |