UMIN-CTR Clinical Trial

Basic information
Public title	Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease
Acronym	Plasma lyso-Gb3 analogues measurement for diagnosis of Fabry disease
Scientific Title	Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease
Scientific Title:Acronym	Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease
Region	Japan

Condition
Condition	Fabry disease
Classification by specialty	Medicine in general Gastroenterology Cardiology Endocrinology and Metabolism Nephrology Neurology Pediatrics Ophthalmology Dermatology
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	The plasma lyso-Gb3 is effective as a biomarker for screening high-risk patients with Fabry disease. However, heterozygote and late-onset Fabry disease remain difficult to be diagnosed due to its lower plasma lyso-Gb3. The plasma lyso-Gb3 and clinical symptoms are not always correlated. Plasma lyso-Gb3 analogues were discovered in Fabry disease patients, but it is still not clear whether there is a correlation among the type of analogues, genotype, phenotype and classification (classic or late-onset). The hypothesis is that plasma lyso-Gb3 analogues [total concentrations and pattern (ratio of each analogue to total concentrations)] rather than lyso-Gb3 alone may be effective biomarker for diagnosing of Fabry disease. We investigate plasma lyso-Gb3 analogues concentration, plasma GLA activity, GLA genotype, and clinical features in patients suspected of having Fabry disease and investigate the relation among these parameters.
Basic objectives2	Others
Basic objectives -Others	Evaluation of the usefulness of plasma lyso-Gb3 analogues as diagnosing biomarker for Fabry disease
Trial characteristics_1
Trial characteristics_2
Developmental phase

Assessment
Primary outcomes	Plasma lyso-Gb3 concentration Plasma lyso-Gb3 analogues [lyso-Gb3(-28), lyso-Gb3(-2), lyso-Gb3(+16), lyso-Gb3(+18), lyso-Gb3(+34), lyso-Gb3(+50)] concentration Plasma GLA activity GLA analysis Clinical features
Key secondary outcomes

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	Not applicable
Age-upper limit	Not applicable
Gender	Male and Female
Key inclusion criteria	1 Patients suspected of having classic Fabry disease: Patients with classic early manifestations, such as acroparesthesia, clustered angiokeratoma, and cornea verticillata 2 Patients suspected of having late-onset Fabry disease: Patients suspected of having Fabry disease by possessing pathologic findings consistent with Fabry disease in kidney biopsy, endomyocardial biopsy or biopsy of other organs 3 Relatives of Fabry disease patients 4 The patients by whom a mulberry body or cell is detected in the urine
Key exclusion criteria	Patients have pathogenic GLA mutation and already diagnosed as Fabry disease should be excluded.
Target sample size	100

Research contact person
Name of lead principal investigator	1st name Hiroki Middle name Last name Maruyama
Organization	Niigata University Graduate School of Medical and Dental Sciences
Division name	Department of Clinical Nephroscience
Zip code	951-8120
Address	1-757 Asahimachi-dori, Chuo-ku, Niigata, Niigata
TEL	025-227-0436
Email	hirokim@med.niigata-u.ac.jp

Public contact
Name of contact person	1st name Hiroki Middle name Last name Maruyama
Organization	Niigata University Graduate School of Medical and Dental Sciences
Division name	Department of Clinical Nephroscience
Zip code	951-8120
Address	1-757 Asahimachi-dori, Chuo-ku, Niigata, Niigata
TEL	025-227-0436
Homepage URL
Email	hirokim@med.niigata-u.ac.jp

Sponsor
Institute	Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences
Institute
Department

Funding Source
Organization	Amicus Therapeutics
Organization
Division
Category of Funding Organization	Profit organization
Nationality of Funding Organization	Japan

Other related organizations
Co-sponsor
Name of secondary funder(s)	Japan Medical Supply Co.,Ltd. Terumo Corp.

IRB Contact (For public release)
Organization	Ethics Committee on Genetic Analysis of Niigata University
Address	1-757 Asahimachi-dori, Chuo-ku, Niigata, Niigata 951-8120
Tel	025-227-2625
Email	ethics@adm.niigata-u.ac.jp

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

Other administrative information
Date of disclosure of the study information	2019 Year 04 Month 11 Day

Related information
URL releasing protocol
Publication of results	Unpublished

Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description

Progress
Recruitment status	Completed
Date of protocol fixation	2019 Year 03 Month 27 Day
Date of IRB	2019 Year 03 Month 27 Day
Anticipated trial start date	2019 Year 04 Month 15 Day
Last follow-up date	2021 Year 12 Month 31 Day
Date of closure to data entry	2021 Year 12 Month 31 Day
Date trial data considered complete	2021 Year 12 Month 31 Day
Date analysis concluded	2021 Year 12 Month 31 Day

Other
Other related information	Prospective multicenter study

Management information
Registered date	2019 Year 04 Month 10 Day
Last modified on	2021 Year 12 Month 07 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000041554