UMIN-CTR Clinical Trial

Basic information
Public title	An observational study of health-related quality of life (HRQOL) in patients with inborn errors of metabolism
Acronym	IEM-QOL
Scientific Title	An observational study of health-related quality of life (HRQOL) in patients with inborn errors of metabolism
Scientific Title:Acronym	IEM-QOL
Region	Japan

Condition
Condition	Inborn errors of metabolism
Classification by specialty	Endocrinology and Metabolism Pediatrics Adult
Classification by malignancy	Others
Genomic information	NO

Objectives
Narrative objectives1	To investigate health-related quality of life (HRQOL) in patients with inborn errors of metabolism
Basic objectives2	Others
Basic objectives -Others	To evaluate HRQOL by comparing validity of EQ-5D-Y outcomes with that of PedsQL outcomes. To evaluate impact of caregiver burden on QOL by investigating the differences in assessment results reported by patients and caregivers.
Trial characteristics_1	Others
Trial characteristics_2	Others
Developmental phase	Not applicable

Assessment
Primary outcomes	Assessment time point: single time point Descriptive statistics of HRQOL values in patients with inborn errors of metabolism
Key secondary outcomes	Assessment time point: single time point 1. Evaluation of the correlation between different QOL instruments. 2. Evaluation of the correlation between patient- and caregiver-reported QOL outcomes. 3. Evaluation of the correlation between caregiver burden and patient QOL.

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	8 years-old <=
Age-upper limit	Not applicable
Gender	Male and Female
Key inclusion criteria	1. Written informed consent has been obtained from the patient after an explanation of the study participation was given. 2. Aged 8 years and older at the time of consent. (male/female) 3. Diagnosed with any of the following inborn errors of metabolism: Phenylketonuria, Maple syrup urine disease, Citrullinemia type 1, Arginosuccinate lyase deficiency, Homocystinuria, Methylmalonic academia, Propionic acidemia, Isovaleric acidemia, Methylcrotonylglycinuria, HMG-CoA lyase deficiency, Multiple carboxylase deficiency, Glutaric acidemia type 1, MCAD deficiency, VLCAD deficiency, TFP deficiency, CPT-1 deficiency, CPT-2 deficiency, citrin deficiency, Beta-ketothiolase deficiency, CACT deficiency, Glutaric acidaemia type 2, or Systemic Carnitine Deficiency 4. Patients' caregivers
Key exclusion criteria	1. Patients judged by the physician to be inappropriate for registration in this study. 2. Patients unable to comprehend consent form or give consent for themselves except in the case of proxy consent by caregiver.
Target sample size	300

Research contact person
Name of lead principal investigator	1st name Chikahiko Middle name Last name Numakura
Organization	Yamagata University Hospital
Division name	Department of Pediatrics
Zip code	990-9585
Address	2-2-2 Iida-Nishi, Yamagata-shi, Yamagata
TEL	023-633-1122
Email	cnumakur@med.id.yamagata-u.ac.jp

Public contact
Name of contact person	1st name Atsuko Middle name Last name Nakasato
Organization	Public Health Research Foundation
Division name	Comprehensive Support Project for Health Outcomes Research (CSP-HOR)
Zip code	169-0051
Address	1-1-7 Nishi-Waseda, Shinjuku-ku, Tokyo
TEL	03-5287-2636
Homepage URL
Email	csp-qol@csp.or.jp

Sponsor
Institute	Public Health Research Foundation
Institute
Department

Funding Source
Organization	National Institute of Public Health
Organization
Division
Category of Funding Organization	Japanese Governmental office
Nationality of Funding Organization	Japan

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

IRB Contact (For public release)
Organization	Ethical Review Committee of Yamagata University Faculty of Medicine
Address	2-2-2 Iida-Nishi, Yamagata City, Yamagata
Tel	023-628-5047(Ext.5047)
Email	ikekenkyu@jm.kj.yamagata-u.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

国立病院機構北海道医療センター（北海道）、北海道大学病院（北海道）、東北大学病院（宮城県）、秋田大学医学部附属病院（秋田県）、山形大学医学部附属病院（山形県）、埼玉医科大学（埼玉県）、埼玉県立小児医療センター（埼玉県）、千葉市立海浜病院（千葉県）、東京女子医科大学（東京都）、日本医科大学付属病院（東京都）、新潟大学医歯学総合病院（新潟県）、金沢医科大学（石川県）、福井大学医学部（福井県）、山梨県立中央病院（山梨県）、山梨大学医学部（山梨県）、岐阜大学（岐阜県）、浜松医科大学医学部附属病院（静岡県）、藤田医科大学病院（愛知県）、大阪市立総合医療センター（大阪府）、関西医科大学（大阪府）、神戸大学（兵庫県）、奈良県立医科大学附属病院（奈良県）、島根大学医学部附属病院（島根県）、岡山医療センター（岡山県）、広島大学病院（広島県）、愛媛県立中央病院（愛媛県）、愛媛大学医学部附属病院（愛媛県）、九州大学病院（福岡県）、久留米大学病院（福岡県）、長崎大学病院（長崎県）、熊本大学大学院（熊本県）大分大学医学部（大分県）、宮崎大学医学部附属病院（宮崎県）、琉球大学大学院（沖縄県）

Other administrative information
Date of disclosure of the study information	2019 Year 11 Month 25 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	165
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	2019 Year 06 Month 14 Day
Date of IRB	2019 Year 07 Month 11 Day
Anticipated trial start date	2019 Year 11 Month 08 Day
Last follow-up date	2021 Year 03 Month 31 Day
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other
Other related information	Inborn errors of metabolism are rare diseases but can be detected by screening. In Japan, only limited information is currently available about daily life and HRQOL of patients diagnosed with inborn errors of metabolism. In this study, a cross-sectional survey will be conducted in order to identify real-life HRQOL of those patients.

Management information
Registered date	2019 Year 11 Month 25 Day
Last modified on	2022 Year 02 Month 18 Day

Link to view the page
URL(English)	https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000044083