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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000020730

Enrollment

Registered

2016-01-26

Start date

2016-02-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spinal and bulbar muscular atrophy

Interventions

None listed

Eligibility

Sex/Gender

Female

Inclusion criteria

Inclusion criteria: 1.Female carriers of SBMA a) Mothers or daughters of patients who were diagnosed as SBMA by a genetic test b) Females who are more than 20 years old at the time of the agreement acquisition c) As a principle, females who are married and who have no children who are under the age of 20 d) Females who understand that they are carriers of SBMA e) Females with written informed consent 2.Healthy female controls a) Females who are 20 years of age or older at the time of the agreement acquisition b) Females who aren't affected with neuromuscular diseases and other severe diseases c) Females with written informed consent

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
Composite measure that combines quantitative muscle strength measurements	—

Secondary

Measure	Time frame
(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	—

Measure

Time frame

(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

—

Countries

Japan

Contacts

Public ContactTomonori Inagaki

Nagoya University Graduate School of Medicine Department of Neurology

t.inagaki@med.nagoya-u.ac.jp052-744-2390

Outcome results