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Study about biomarkers of female carriers in spinal and bulbar muscular atrophy(SBMA)

Not Applicable
Recruiting
Conditions
Spinal and bulbar muscular atrophy
Registration Number
JPRN-UMIN000020730
Lead Sponsor
Department of Neurology, Nagoya University Graduate School of Medicine
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Recruiting
Sex
Female
Target Recruitment
40
Inclusion Criteria

Not provided

Exclusion Criteria

a) Females who have desire to mother a child. b) Females who have severe complications c) Females who are considered as being not appropriate to participate in the study

Study & Design

Study Type
Observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Composite measure that combines quantitative muscle strength measurements
Secondary Outcome Measures
NameTimeMethod
(1) Motor function: Grip power, tongue pressure, Timed walk test, Rise from bed test, and modified QMG Score, Manual muscle test (2) Respiratory function test: vital capacity, forced vital capacity, forced expiratory volume one second percent, peak expiratory flow and V50/V25 (3)Motor unit number estimation (MUNE) by stimulating the ulnar nerve (4) Activities of daily living(ADL) assessed by ALSFRS-R and SBMAFRS questionnaires (5) Swallowing Disturbance Questionnaire (6) Quality of life questionnaires: SWAL-QOL and ALSAQ-5 (7) Multidimensional Fatigue Inventory (8) Muscle mass measured by dual-energy X-ray absorptiometry (9) Urinary 8-OHdG (10)Electromyography (11)Electrocardiogram
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