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Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03285204
Recruitment Status : Recruiting
First Posted : September 15, 2017
Last Update Posted : February 26, 2019
Information provided by (Responsible Party):
Jose Luis Urcelay Segura, Hospital General Universitario Gregorio Marañon

Brief Summary:
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

Condition or disease
Amyotrophic Lateral Sclerosis

Detailed Description:
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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Study Type : Observational
Estimated Enrollment : 90 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia
Actual Study Start Date : July 2015
Estimated Primary Completion Date : January 2020
Estimated Study Completion Date : February 2020

ALS patients
Friedreich Ataxia patients
Healthy control

Primary Outcome Measures :
  1. early biomarker of amyotrophic lateral sclerosis and Friedreich's Ataxia [ Time Frame: change from baseline to 6 month ]
    macular, ganglion cell layer and retinal nerve fiber layer thickness measure

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Amyotrophic lateral sclerosis patients Friedreich's ataxia patients Healthy volunteers

Inclusion Criteria:

  • Older than 18 years.
  • Best corrected visual acuity more than 0.4 (20/50 Snellen = 0.4 logMAR = 65 ETDRS letters).
  • Refractive defect less than 5 diopters of spherical equivalent and / or cylinder less than 2 diopters.
  • Transparent optical media: Opacity of crystalline <1 according to Lens Opacities Classification System (LOCS) III.
  • Open anterior chamber angle assessed by gonioscopy with Goldmann lens (grade> III).
  • Availability and collaboration to carry out the tests of the exploratory protocol.
  • Acceptance of informed consent.

Exclusion Criteria:

  • Previous intraocular surgeries of less than 6 months of evolution. Patients with refractive surgery using the LASIK or LASEK technique will not be excluded.
  • Physical or mental difficulties to perform reliable and reproducible perimeters.
  • Pathology and / or ocular malformations, angular or optic nerve anomalies.
  • Any retinopathy or maculopathy.
  • Intraocular pressure (IOP)> 21 mmHg.
  • Signal-to-noise ratio in OCT less than 5/10.
  • Failure to meet any inclusion criteria.
  • Mental retardation or any other limitation in obtaining informed consent.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03285204

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Contact: Pilar Rojas, MD +34616042758

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Pilar Rojas Lozano Recruiting
Madrid, Spain, 28010
Contact: Pilar Rojas Lozano    +34616042758   
Sponsors and Collaborators
Jose Luis Urcelay Segura
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Principal Investigator: Jose L Urcelay, PhD HGU Gregorio Marañón

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Responsible Party: Jose Luis Urcelay Segura, Head Of ophthalmology, Hospital General Universitario Gregorio Marañon Identifier: NCT03285204     History of Changes
Other Study ID Numbers: ELA-AF-OCT-2014-01
First Posted: September 15, 2017    Key Record Dates
Last Update Posted: February 26, 2019
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Jose Luis Urcelay Segura, Hospital General Universitario Gregorio Marañon:
optical coherence tomography
amyotrophic lateral sclerosis

Additional relevant MeSH terms:
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Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Friedreich Ataxia
Vision Disorders
Vision, Low
Pathologic Processes
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Spinal Cord Diseases
Central Nervous System Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Spinocerebellar Degenerations
Cerebellar Diseases
Brain Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Mitochondrial Diseases
Sensation Disorders
Neurologic Manifestations
Eye Diseases
Signs and Symptoms