UMIN-ICDS Clinical Trial

Unique ID issued by UMIN UMIN000036465
Receipt number R000041554
Scientific Title Evaluation of effectiveness of plasma lyso-Gb3 analogues as biomarker for diagnosing of Fabry disease
Date of disclosure of the study information 2019/04/11
Last modified on 2021/12/07 14:42:49

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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 or person

Institute

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

Institute

Department

Personal name



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

Value
https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000041554


Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
Registered date File name