UMIN-ICDS Clinical Trial
| Unique ID issued by UMIN | UMIN000054976 |
|---|---|
| Receipt number | R000062817 |
| Scientific Title | Epidemiological Study of 3-OMD Elevation and AADC Deficiency in a Cerebral Palsy-like Patient Population |
| Date of disclosure of the study information | 2024/07/16 |
| Last modified on | 2024/07/16 14:04:18 |
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Basic information
Public title
Prevalence of 3-OMD Elevation and AADC Deficiency in a Group of Cerebral Palsy-Like Patients of Unknown Cause
Acronym
Prevalence of 3-OMD Elevation and AADC Deficiency in a Group of Cerebral Palsy-like Patients
Scientific Title
Epidemiological Study of 3-OMD Elevation and AADC Deficiency in a Cerebral Palsy-like Patient Population
Scientific Title:Acronym
Frequency of AADC Deficiency in Cerebral Palsy-like Patients
Region
| Japan |
Condition
Condition
AADC Deficiency
Classification by specialty
| Pediatrics |
Classification by malignancy
Others
Genomic information
NO
Objectives
Narrative objectives1
In AADC deficiency, 3-O-methyldopa (3-OMD), a metabolite of levodopa, accumulates and is detected in the blood, and we have developed a system to detect it.1 Since the blood test can easily screen for elevated 3-OMD levels, the primary goal is to identify patients in Japan who can be treated, This is primarily intended to identify patients in Japan who can be treated and lead to early treatment. It also provides information on the prevalence of elevated 3-OMD and aromatic L-amino acid decarboxylase deficiency (AADC deficiency) in a group of cerebral palsy-like patients of unknown aetiology.
Basic objectives2
Others
Basic objectives -Others
The validity of the test as a screening test will also be evaluated, since patients who test positive will undergo genetic diagnosis by Kazusa DNA under the care of their primary care physician as part of their insurance reimbursement. The cost of the entire test, including labor costs, will also be calculated, and the possibility of outsourcing the test to an outside vendor and providing insurance reimbursement will be evaluated.
Trial characteristics_1
Exploratory
Trial characteristics_2
Explanatory
Developmental phase
Not applicable
Assessment
Primary outcomes
prevalence of AADC deficiency, prevalence of elevated 3-OMD
Key secondary outcomes
validity as a screening test
Base
Study type
Interventional
Study design
Basic design
Single arm
Randomization
Non-randomized
Randomization unit
Blinding
Open -no one is blinded
Control
Self control
Stratification
NO
Dynamic allocation
NO
Institution consideration
Institution is not considered as adjustment factor.
Blocking
NO
Concealment
No need to know
Intervention
No. of arms
1
Purpose of intervention
Diagnosis
Type of intervention
| Maneuver |
Interventions/Control_1
When a patient who is the subject of the study is seen, the materials will be used by the principal investigator/associate investigator to explain the disease AADC deficiency and the significance of the 3-OMD screening test to the patient/proxy, and consent for the study will then be obtained. If consent is obtained, filter blood (approximately 0.04 ml) will be collected for the study.
After drying, the filter paper blood will be sent to Jichi Medical University. (Since the sample volume is 0.04 ml, it is assumed that the study will be conducted using surplus blood from a normal blood collection and that no new blood sampling will be required in many cases, but it is possible that blood sampling will be conducted only for this filter paper blood collection.) The application form should include the identification number, sex, age, date of specimen collection, and special instructions only, and the reasons why the patient is considered for screening (see "Application Form Checklist" below) should be checked and mailed together with the filter paper blood. The Jichi Medical University Department of Pediatrics will measure the 3-OMD and make a decision as to whether it is normal or abnormally high.
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
With any of the following symptoms:
Abnormal Ocular Seizures
(Also called Oculogyric Crisis, in which the eyeballs are fixed in vertical, abducted, or adducted positions, sometimes with tension or abnormal posture. They occur in paroxysms every few days, lasting from a few minutes to several hours.)
decreased muscle tone:
Abnormal movement:
dystonia, athetosis, little movement
Ptosis, diurnal fluctuations in physical condition, which recover after sleep
Sleep disturbances:
excessive sleep, insomnia
Psychiatric symptoms:
Easily stimulated, mood swings
Autonomic symptoms:
Hyperhidrosis, drooling, nasal obstruction, diarrhea or constipation, temperature dysregulation
Hypoglycemic attacks
Key exclusion criteria
Risk factors for cerebral palsy (prematurity, low birth weight, multiple births, low blood sugar, jaundice/nucleus pulposus, parenthood, intracranial hemorrhage, infection, stroke, head injury, etc.)
Target sample size
40
Research contact person
Name of lead principal investigator
| 1st name | Hitoshi |
| Middle name | |
| Last name | Osaka |
Organization
Jichi Medical University
Division name
Department of Pediatrics
Zip code
329-0498
Address
3311-1 Yakushiji, Shimotsuke-shi, Tochigi
TEL
0285587366
hosaka@jichi.ac.jp
Public contact
Name of contact person
| 1st name | Hitoshi |
| Middle name | |
| Last name | Osaka |
Organization
Jichi Medical University
Division name
Department of Pediatrics
Zip code
234-005
Address
3311-1 Yakushiji, Shimotsuke-shi, Tochigi
TEL
0285587366
Homepage URL
hosaka@jichi.ac.jp
Sponsor or person
Institute
Jichi Medical University
Institute
Department
Personal name
Funding Source
Organization
PTC Therapeutics, Inc.
Organization
Division
Category of Funding Organization
Other
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Secretariat of the Central Clinical Research Review Committee, Jichi Medical University
Address
3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498 Japan
Tel
0285-44-1256
jmu-crb2020@jichi.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
| 2024 | Year | 07 | Month | 16 | 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
Preinitiation
Date of protocol fixation
| 2024 | Year | 04 | Month | 30 | Day |
Date of IRB
Anticipated trial start date
| 2024 | Year | 08 | Month | 01 | Day |
Last follow-up date
| 2027 | Year | 11 | Month | 29 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
Management information
Registered date
| 2024 | Year | 07 | Month | 16 | Day |
Last modified on
| 2024 | Year | 07 | Month | 16 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000062817
| Research Plan | |
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| Registered date | File name |
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| Registered date | File name |
| Research case data | |
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