UMIN-CTR Clinical Trial

Basic information
Official scientific title of the study	Sodium pyruvate therapy for the patients with citrin deficiency
Title of the study (Brief title)	pyruvate therapy for citrin deficiency
Region	Japan

Condition
Condition	citrin deficiency
Classification by specialty	Hepato-biliary-pancreatic medicine Neurology Pediatrics
Classification by malignancy	Others
Genomic information	NO

Objectives
Narrative objectives1	We examinie effects of sodium pyruvate on neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD), easy fatigability and hypoglycemia in the compensation period and adult onset type II citrullinemia (CTLN2) in citrin deficiency.
Basic objectives2	Efficacy
Basic objectives -Others
Trial characteristics_1
Trial characteristics_2
Developmental phase

Assessment
Primary outcomes	Adult onset type II citrullinemia 1) improvement of citrulllinemia and hyperannmonemia 2) improvement of impaired consciousness 3) improvement of QOL Compensation period 1) improvement of citrulllinemia and oxidative stress 2) improvement of QOL 3) improvement of appetite habit Neonatal intrehepatic cholestasis caused by citrin deficincy 1) improvement of cholestasis and citrullinemia 2) catch up of body weight
Key secondary outcomes

Base
Study type	Interventional

Study design
Basic design	Single arm
Randomization	Non-randomized
Randomization unit
Blinding	Open -no one is blinded
Control	Uncontrolled
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment

Intervention
No. of arms	1
Purpose of intervention	Treatment
Type of intervention	Medicine
Interventions/Control_1	1) Medicine: sodium pyruvate 2) Duration: 16 weeks, If patient hopes, it can continue. 3) Amount: 100~300 mg/kg/day 4) Number:2~3 times/day after eating orally
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) the patients with CTLN2 2) the patients with symptoms of easy fatiqability growth retardation and hypoglycemia in compensation period. 3) the patients with severe hepatic damage by NICCD. 4) the patients with informed concecnt by document was proved.
Key exclusion criteria	pregnant woman
Target sample size	6

Research contact person
Name of lead principal investigator	Yasuhiro Takeshima
Organization	Kobe University Graduate School of Medicine
Division name	Department of Pediatrics
Address	7-5-1, Kusunoki-cho, Chuo, Kobe, 6500017, Japan
TEL	078-382-5111
Email	takesima@med.kobe-u.ac.jp

Public contact
Name of contact person	Hiroyuki AWANO
Organization	Kobe University Graduate School of Medicine
Division name	Department of Pediatrics
Address	7-5-1, Kusunoki-cho, Chuo, Kobe, 6500017, Japan
TEL	078-382-5111
Homepage URL
Email	awahiro@med.kobe-u.ac.jp

Sponsor
Institute	Department of Pediatrics, Kobe university Graduate School of Medicine
Institute
Department

Funding Source
Organization	Grant-in-Aid for Scientific Research
Organization
Division
Category of Funding Organization
Nationality of Funding Organization

Other related organizations
Co-sponsor
Name of secondary funｄer(s)

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	2012 Year 09 Month 15 Day

Progress
Recruitment status	Completed
Date of protocol fixation	2012 Year 09 Month 15 Day
Anticipated trial start date	2012 Year 09 Month 15 Day
Last follow-up date
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Related information
URL releasing protocol
Publication of results	Unpublished
URL releasing results
Results
Other related information

Management information
Registered date	2012 Year 07 Month 25 Day
Last modified on	2018 Year 08 Month 27 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000010027