Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias - Full Text View

Purpose

Measuring the various difficulties patients with spinocerebellar ataxias (SCA) report in an accurate manner is important to be able to test any therapy that may be developed. As basic research identifies some therapy of this type, clinicians are planning studies that can either prove or disprove that such treatments actually have an effect. Walking problems and problems with eye movements that can give rise to visual complaints are common in the SCA's.

Existing neurological scales such as the "SARA" are based on the usual neurological examination items that can carry a degree of subjective bias. Also the intervals between numbers on such scores often do not carry the same "weight" so that the difference between a score of 1 and 2 may not be equal to difference between 2 and 3. Lastly, such scales done in the clinic setting capture only a brief period of a patient's day. We propose that examination of home based gait monitoring, timed tests of motor function and quantitative measures of visual problems in patients with SCA are more useful in measuring the disability in these patients.

Condition

Spinocerebellar Ataxia

Genetics Home Reference related topics:

familial encephalopathy with neuroserpin inclusion bodies Friedreich ataxia

U.S. FDA Resources

Study Type:	Observational
Study Design:	Cohort, Prospective

Official Title:	Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA)

Further study details as provided by University of Mississippi Medical Center:

Primary Outcome Measures:

Home based gait data vs SARA index [ Time Frame: 0, 6, 12, 24 months ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:

Barthel Index [ Time Frame: 0, 6, 12, 24 months ] [ Designated as safety issue: No ]
Visual function- acuity, contrast, stereo, color [ Time Frame: 0, 6, 12, 24 months ] [ Designated as safety issue: No ]
Ocular Motility defects- phoria/tropia, vergence amplitudes [ Time Frame: 0, 6, 12, 24 months ] [ Designated as safety issue: No ]

Biospecimen Retention: None Retained

Biospecimen Description:

Estimated Enrollment:	30
Study Start Date:	February 2008
Estimated Study Completion Date:	December 2010

Detailed Description:

Spinocerebellar ataxias (SCA's) are relatively rare, inherited disorders of the cerebellum that cause inexorably progressive imbalance and incoordination as well as speech problems. Recent molecular genetic studies have raised hopes for meaningful treatments for these conditions. Before one can embark on therapeutic studies on the SCA's it is essential that we have validated instruments for measuring disease progression. Rating scales based on neurological examinations have been reported recently but their sensitivity to change and reproducibility are still being examined. In an attempt to produce readily quantifiable and sensitive measures of motor function in the SCA's, we are proposing to examine the utility of home based gait monitoring, timed tests of motor function and quantitative measures of visual problems in patients with SCA's. These measurements which will produce continuous rather than categorical variables, and may be subject to less arbitrariness on the part of the examiner, are hypothesized to be not only valid measures but also more sensitive.

The overall aim of the project is to assess the utility of home based gait monitoring, timed performance measures and functional visual testing as measures to monitor disease progression in SCA's. The concurrent validity of these measures will be tested by correlating them with an established examination based ataxia scale (Scale for assessment and rating of ataxia: SARA), an activity of daily living scale (Barthel index) and functional staging.

Aim 1: Hypothesis: Motor impairment in SCA's can be assessed validly in the home setting by utilizing the step activity monitor (SAM).

Aim 2: Hypothesis: Motor impairment in SCA's can be further quantified using performance measures: the 9-hole peg board test and the timed 25 foot walk.

Aim 3: Hypothesis: Visual problems reported by patients with SCA's can be quantified by low contrast vision testing, stereoacuity measures, color vision and vergence amplitudes utilizing well-established ophthalmologic techniques.

Aim 4: Hypothesis: The neurological impairment as measured by these measures will correlate with each other, with scores on SARA, with the Barthel index score and with functional staging.

Aim 5: Hypothesis: Ataxia grading using the SAM, timed performance measures and functional visual scores will be more sensitive than SARA for measuring disease progression

Eligibility

Ages Eligible for Study:	18 Years to 80 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients attending the Ataxia Clinic

Criteria

Inclusion Criteria:

Patients with the diagnosis of Spinocerebellar Ataxia (Type 1,2,3,6,7,8 and 10) will be selected from those attending the ataxia clinic in the Neurology Department at University of Mississippi Medical Center
Patients will be 18years or older in age
All patients are able to walk with or without assisted devices

Exclusion Criteria:

Patients less than 18years.
Patients who are wheelchair bound

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00654251

Contacts


Contact: S H Subramony, MD	409 772 2646	shsubram@utmb.edu

Contact: James J Corbett, MD	601-984-5500	jcorbett@neurology.umsmed.edu

Locations


United States, Mississippi
	University of Mississippi Medical Center	Recruiting
	Jackson, Mississippi, United States, 39211
	Contact: James J Corbett, MD 601-984-5500 jcorbett@neurology.umsmed.edu
	Contact: Sachin Kedar, MD 601-984-5500 skedar@neurology.umsmed.edu
	Sub-Investigator: Sachin Kedar, MD
	Sub-Investigator: Earnest L Murray, MD
	Sub-Investigator: Deepta A Ghate, MD

United States, Texas
	University of Texas Medical Branch	Recruiting
	Galveston, Texas, United States, 77555
	Contact: S H Subramony, MD 409-772-2646 shsubram@utmb.edu

Sponsors and Collaborators

University of Mississippi Medical Center

University of Texas

Investigators


Study Chair:	James J Corbett, MD	University of Mississippi Medical Center

Study Director:	S H Subramony, MD	University of Texas

Study Director:	Sachin Kedar, MD	University of Mississippi Medical Center

More Information

Publications:

Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004 May;3(5):291-304. Review.

Dueñas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006 Jun;129(Pt 6):1357-70. Epub 2006 Apr 13. Review.

Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schöls L, Szymanski S, van de Warrenburg BP, Dürr A, Klockgether T, Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006 Jun 13;66(11):1717-20. Erratum in: Neurology. 2006 Jul 25;67(2):299. Fancellu, Roberto [added].

Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T; Cooperative Ataxia Group. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. Neurology. 2005 Apr 12;64(7):1261-2.

Busse ME, Pearson OR, Van Deursen R, Wiles CM. Quantified measurement of activity provides insight into motor function and recovery in neurological disease. J Neurol Neurosurg Psychiatry. 2004 Jun;75(6):884-8.

Fahey MC, Corben LA, Collins V, Churchyard AJ, Delatycki MB. The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia. Neurology. 2007 Feb 27;68(9):705-6. No abstract available.

Responsible Party:	University of Mississippi Medical Center ( James J Corbett )
Study ID Numbers:	2007-0228
First Received:	April 1, 2008
Last Updated:	April 1, 2008
ClinicalTrials.gov Identifier:	NCT00654251
Health Authority:	United States: Institutional Review Board

Keywords provided by University of Mississippi Medical Center:

Spinocerebellar ataxia

Machado-Joseph disease

Gait monitoring

Functional vision assessment

Gait monitoring

Study placed in the following topic categories:

Spinal Cord Diseases

Central Nervous System Diseases

Brain Diseases

Neurodegenerative Diseases

Dyskinesias

Signs and Symptoms

Cerebellar Ataxia

Heredodegenerative Disorders, Nervous System

Genetic Diseases, Inborn

Ataxia

Neurologic Manifestations

Cerebellar Diseases

Cerebellar ataxia

Spinocerebellar Degenerations

Spinocerebellar Ataxias

Additional relevant MeSH terms:

Nervous System Diseases

ClinicalTrials.gov processed this record on October 10, 2008

Sponsors and Collaborators:	University of Mississippi Medical Center University of Texas
Information provided by:	University of Mississippi Medical Center
ClinicalTrials.gov Identifier:	NCT00654251