UMIN-ICDS Clinical Trial
| Unique ID issued by UMIN | UMIN000060555 |
|---|---|
| Receipt number | R000069150 |
| Scientific Title | Age-related progression of clinical symptoms and the importance of early intervention in 100 heterozygous females with Fabry disease |
| Date of disclosure of the study information | 2026/02/02 |
| Last modified on | 2026/02/02 19:29:35 |
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Basic information
Public title
Age-related progression of clinical symptoms and the importance of early intervention in 100 heterozygous females with Fabry disease
Acronym
Clinical symptoms in heterozygous females with Fabry disease
Scientific Title
Age-related progression of clinical symptoms and the importance of early intervention in 100 heterozygous females with Fabry disease
Scientific Title:Acronym
Clinical symptoms in heterozygous females with Fabry disease
Region
| Japan |
Condition
Condition
Fabry disease
Classification by specialty
| Nephrology |
Classification by malignancy
Others
Genomic information
NO
Objectives
Narrative objectives1
This study aimed to analyze the correlation between clinical characteristics and aging in 100 heterozygous females with Fabry disease.
Basic objectives2
Others
Basic objectives -Others
Organ damage in heterozygous females progresses with age and can reach levels of severity comparable to those in male patients. Early clinical evaluation and timely therapeutic intervention are essential.
Trial characteristics_1
Others
Trial characteristics_2
Developmental phase
Not applicable
Assessment
Primary outcomes
One hundred female patients (excluding those with the E66Q mutation) were categorized into three groups based on age at initial diagnosis.
Group 1 (le 29 years), group 2 (30 to 49 years), and group 3 (ge 50 years). Renal and cardiac functions were retrospectively and prospectively evaluated.
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
Female
Key inclusion criteria
Female patients with Fabry disease were enrolled in three groups based on their age at first diagnosis: Group 1 (under 29 years old), Group 2 (30 to 49 years old), and Group 3 (over 50 years old).
Key exclusion criteria
excluding those with the E66Q mutation
Target sample size
100
Research contact person
Name of lead principal investigator
| 1st name | KAZUYA |
| Middle name | |
| Last name | TSUBOI |
Organization
Nagoya Central Hospital
Division name
Lysosomal Storage Disease Center
Zip code
453-0801
Address
Taiko 3-7-7, Nakamura-ku, Nagoya, Japan
TEL
+81-52-452-3165
tsuboi1192@gmail.com
Public contact
Name of contact person
| 1st name | KAZUYA |
| Middle name | |
| Last name | TSUBOI |
Organization
Nagoya Central Hospital
Division name
Lysosomal Storage Disease Center
Zip code
4540953
Address
Taiko 3-7-7, Nakamura-ku, Nagoya, Japan
TEL
+81-52-452-3165
Homepage URL
tsuboi1192@gmail.com
Sponsor or person
Institute
Nagoya Central Hospital
Institute
Department
Personal name
KAZUYA TSUBOI
Funding Source
Organization
Nagoya Central Hospital
Organization
Division
Category of Funding Organization
Profit organization
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
IRB, Nagoya Central Hospital
Address
Taiko 3-7-7, Nakamura-ku, Nagoya, Japan
Tel
+81-52-452-3165
tsuboi1192@gmail.com
Secondary IDs
Secondary IDs
NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW
愛知県
Institutions
Institutions
Other administrative information
Date of disclosure of the study information
| 2026 | Year | 02 | Month | 02 | 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
100
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
No longer recruiting
Date of protocol fixation
| 2018 | Year | 12 | Month | 01 | Day |
Date of IRB
| 2019 | Year | 01 | Month | 09 | Day |
Anticipated trial start date
| 2019 | Year | 02 | Month | 01 | Day |
Last follow-up date
| 2026 | Year | 02 | Month | 02 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
We studied 100 untreated female patients diagnosed with heterozygous Fabry disease who attended Nagoya Central Hospital between 2005 and 2025. Data for cases prior to 2019 were collected retrospectively from medical records, while cases after 2019 were registered prospectively. Patients with the E66Q mutation were excluded from this study because the clinical significance of this variant is considered distinct from that of pathogenic mutations.
Management information
Registered date
| 2026 | Year | 02 | Month | 02 | Day |
Last modified on
| 2026 | Year | 02 | Month | 02 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000069150
