UMIN-CTR Clinical Trial

Public title

Follow-up Study Using the Rare Disease Platform Registry for Inherited Metabolic Diseases: RADDAR-J [30]

Acronym

Follow-up Study Using the Rare Disease Platform Registry for Inherited Metabolic Diseases: RADDAR-J [30]

Scientific Title

Follow-up Study Using the Rare Disease Platform Registry for Inherited Metabolic Diseases: RADDAR-J [30]

Scientific Title:Acronym

Follow-up Study Using the Rare Disease Platform Registry for Inherited Metabolic Diseases: RADDAR-J [30]

Region

Japan

Condition

inherited metabolic diseases

Classification by specialty

Pediatrics

Classification by malignancy

Others

Genomic information

YES

Narrative objectives1

The objective is to accumulate clinical information on patients with inherited metabolic diseases (IMDs) and to conduct continuous and long-term evaluations of relevant parameters. This approach aims to elucidate the natural history and prognostic factors of IMDs, ultimately contributing to the development and establishment of new therapeutic strategies for these conditions. Although not a genetic analysis study, the project seeks to gather as much mutation data as possible on the responsible genes identified either through diagnostic or research efforts. By consolidating information on the relationship between clinical phenotypes and genotypes of various IMDs in Japan, the study also aims to revise clinical guidelines not only at the disease level but also based on specific genotypes.

Basic objectives2

Others

Basic objectives -Others

The targeted inherited metabolic diseases have small patient populations, with patients dispersed across various medical institutions. This lack of centralized information on these diseases has hindered progress in understanding their pathophysiology and advancing treatment research. In this study, a registry for the target disease group will be established using the standard registry system of the Rare Disease Platform. This approach enables the aggregation of information on dispersed patients, allowing for comprehensive analyses from multiple perspectives based on the extensive clinical data collected. These results will facilitate the elucidation of the natural history of the target diseases. Furthermore, by identifying and monitoring genetic mutations, differences in the clinical course of the diseases based on genotypes can also be clarified.

Trial characteristics_1

Trial characteristics_2

Developmental phase

Primary outcomes

The following will be evaluated every 1-2 years:

1) Development (developmental index or intelligence quotient)
2) Growth (height, weight)
3) Presence of metabolic events (such as episodes of acidosis or hyperammonemia)

Key secondary outcomes

Study type

Observational

Basic design

Randomization

Randomization unit

Blinding

Control

Stratification

Dynamic allocation

Institution consideration

Blocking

Concealment

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

Age-lower limit

Not applicable

Age-upper limit

Not applicable

Gender

Male and Female

Key inclusion criteria

1) Patients diagnosed with an inherited metabolic disease that meets the diagnostic criteria for either Pediatric Chronic Specific Diseases or Designated Intractable Diseases.
2) Patients who have provided written consent to participate in the study.

Key exclusion criteria

Patients deemed unsuitable for inclusion based on the judgment of the researchers or related personnel.

Target sample size

1000

Name of lead principal investigator

1st name	Hideo
Middle name
Last name	Sasai

Organization

Gifu University

Division name

Department of Pediatrics,Graduate School of Medicine

Zip code

501-1194

Address

1-1 Yanagido, Gifu, Gifu

TEL

058-230-6386

Email

sasai-gif@umin.net

Name of contact person

1st name	Hideo
Middle name
Last name	Sasai

Organization

GIfu University

Division name

Department of Pediatrics,Graduate School of Medicine

Zip code

501-1194

Address

1-1 Yanagido, Gifu, Gifu

TEL

058-230-6386

Homepage URL

Email

sasai-gif@umin.net

Institute

Gifu University

Institute

Department

Personal name

SASAI Hideo

Organization

Japan Agency for Medical Research and Development (AMED)

Organization

Division

Category of Funding Organization

Japanese Governmental office

Nationality of Funding Organization

Co-sponsor

Name of secondary funder(s)

Organization

Kyoto University Graduate School and Faculty of Medicine, Ethics Committee

Address

Yoshida-Konoe-cho, Sakyo-ku, Kyoto

Tel

075-753-4680

Email

sasai-gif@umin.net

Secondary IDs

NO

Study ID_1

Org. issuing International ID_1

Study ID_2

Org. issuing International ID_2

IND to MHLW

Institutions

Date of disclosure of the study information

2025

Year

04

Month

01

Day

URL releasing protocol

Publication of results

Unpublished

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

Recruitment status

Enrolling by invitation

Date of protocol fixation

2021

Year

07

Month

20

Day

Date of IRB

2021

Year

07

Month

20

Day

Anticipated trial start date

2021

Year

07

Month

20

Day

Last follow-up date

2035

Year

01

Month

10

Day

Date of closure to data entry

Date trial data considered complete

Date analysis concluded

Other related information

14.1 Observational Items
[Initial Registration Items]
Name, contact information
Date of birth, sex
Birth information
Diagnosis, certification status as a Designated Intractable Disease patient
Onset date, diagnosis date
Medical institution name, medical department
EQ-5D-5L
Family history
Pregnancy and childbirth information
Social security, care certification, care level
Educational and employment status
Use of stimulants or preferences
Information about parents
Information at birth
Patient information at registration (height, weight, intelligence quotient)
Diagnosis name
Genetic mutation information
Primary physician information
Newborn mass screening results
Urinary organic acid analysis results
Tandem mass spectrometry results
General clinical test results
Clinical course
Treatment details
Results of brain MRI, electrocardiogram, echocardiogram, and other specialized tests

[Follow-up Survey Items]
Outcomes
EQ-5D-5L
Primary physician information
Recent test results
Height, weight, development
Progress over the past two years
Current treatment
Results of brain MRI, electrocardiogram, echocardiogram, and other specialized tests
Treatment details

14.2 Observation Schedule
The follow-up survey will be conducted one year after the initial registration and approximately every two years thereafter (e.g., for patients registered in year X, follow-up will occur in years X+1, X+3, X+5).

14.3 Observation Methods
Candidate registrants will send their basic information to the research office at the time of initial registration. The research office will input this data into the registry system. For registered patients, the primary physician requested by the patient (or their parents) will input the initial medical information directly into the system if the physician is a member of the Metabolism Core Team (co-investigators).

Registered date

2025

Year

01

Month

14

Day

Last modified on

2025

Year

01

Month

14

Day

Link to view the page

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000064829