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 |
Prevalence of 3-OMD Elevation and AADC Deficiency in a Group of Cerebral Palsy-Like Patients of Unknown Cause
Prevalence of 3-OMD Elevation and AADC Deficiency in a Group of Cerebral Palsy-like Patients
Epidemiological Study of 3-OMD Elevation and AADC Deficiency in a Cerebral Palsy-like Patient Population
Frequency of AADC Deficiency in Cerebral Palsy-like Patients
Japan |
AADC Deficiency
Pediatrics |
Others
NO
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.
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.
Exploratory
Explanatory
Not applicable
prevalence of AADC deficiency, prevalence of elevated 3-OMD
validity as a screening test
Interventional
Single arm
Non-randomized
Open -no one is blinded
Self control
NO
NO
Institution is not considered as adjustment factor.
NO
No need to know
1
Diagnosis
Maneuver |
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.
Not applicable |
Not applicable |
Male and Female
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
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.)
40
1st name | Hitoshi |
Middle name | |
Last name | Osaka |
Jichi Medical University
Department of Pediatrics
329-0498
3311-1 Yakushiji, Shimotsuke-shi, Tochigi
0285587366
hosaka@jichi.ac.jp
1st name | Hitoshi |
Middle name | |
Last name | Osaka |
Jichi Medical University
Department of Pediatrics
234-005
3311-1 Yakushiji, Shimotsuke-shi, Tochigi
0285587366
hosaka@jichi.ac.jp
Jichi Medical University
PTC Therapeutics, Inc.
Other
Secretariat of the Central Clinical Research Review Committee, Jichi Medical University
3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498 Japan
0285-44-1256
jmu-crb2020@jichi.ac.jp
NO
2024 | Year | 07 | Month | 16 | Day |
Unpublished
Preinitiation
2024 | Year | 04 | Month | 30 | Day |
2024 | Year | 08 | Month | 01 | Day |
2027 | Year | 11 | Month | 29 | Day |
2024 | Year | 07 | Month | 16 | Day |
2024 | Year | 07 | Month | 16 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000062817
Research Plan | |
---|---|
Registered date | File name |
Research case data specifications | |
---|---|
Registered date | File name |
Research case data | |
---|---|
Registered date | File name |