UMIN-CTR Clinical Trial

Basic information
Official scientific title of the study	Study about biomarkers of female carriers in spinal and bulbar muscular atrophy(SBMA)
Title of the study (Brief title)	Biomarkers of female carriers in SBMA
Region	Japan

Condition
Condition	Spinal and bulbar muscular atrophy
Classification by specialty	Neurology Adult
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	In this study, we aim to evaluate the biomarkers in female carriers of spinal and bulbar muscular atrophy (SBMA) and compare them with those of healthy female controls.
Basic objectives2	Others
Basic objectives -Others	To explore and identify the biomarkers of female carriers in spinal and bulbar muscular atrophy (SBMA)
Trial characteristics_1	Exploratory
Trial characteristics_2	Others
Developmental phase	Not applicable

Assessment
Primary outcomes	Composite measure that combines quantitative muscle strength measurements
Key secondary outcomes	(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

Base
Study type	Observational

Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment

Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
Interventions/Control_2
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10

Eligibility
Age-lower limit	20 years-old <=
Age-upper limit	Not applicable
Gender	Female
Key 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
Key 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
Target sample size	40

Research contact person
Name of lead principal investigator	Masahisa Katsuno
Organization	Nagoya University Graduate School of Medicine
Division name	Department of Neurology
Address	65 Tsurumai-cho, Showa-ku, Nagoya 466-8550 Japan
TEL	052-744-2385
Email	Ka2no@med.nagoya-u.ac.jp

Public contact
Name of contact person	Tomonori Inagaki
Organization	Nagoya University Graduate School of Medicine
Division name	Department of Neurology
Address	65 Tsurumai-cho, Showa-ku, Nagoya 466-8550 Japan
TEL	052-744-2390
Homepage URL
Email	t.inagaki@med.nagoya-u.ac.jp

Sponsor
Institute	Department of Neurology, Nagoya University Graduate School of Medicine
Institute
Department

Funding Source
Organization	Japan Society for the Promotion of Science
Organization
Division
Category of Funding Organization	Other
Nationality of Funding Organization

Other related organizations
Co-sponsor	Jichi medical university
Name of secondary funｄer(s)

Secondary IDs
Secondary IDs	NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW

Institutions
Institutions	名古屋大学医学部附属病院(愛知県)、自治医科大学（栃木県）、

Other administrative information
Date of disclosure of the study information	2016 Year 01 Month 26 Day

Progress
Recruitment status	Open public recruiting
Date of protocol fixation	2015 Year 11 Month 10 Day
Anticipated trial start date	2016 Year 02 Month 01 Day
Last follow-up date
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Related information
URL releasing protocol
Publication of results	Unpublished
URL releasing results
Results
Other related information	Study design: case-control study Objective: The carriers and healty controls who have written-informed consent in Nagoya University Hospital and Jichi medical university between 2016/2/1 and 2020/3/31. Measurements: blood, urinary, clinical data

Management information
Registered date	2016 Year 01 Month 25 Day
Last modified on	2018 Year 02 Month 19 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000023437