Inborn errors of metabolism
Conditions
Interventions
None listed
Sponsors
Public Health Research Foundation
Eligibility
Sex/Gender
All
Inclusion criteria
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
Exclusion criteria
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Assessment time point: single time point Descriptive statistics of HRQOL values in patients with inborn errors of metabolism | — |
Secondary
| Measure | Time frame |
|---|---|
| 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. | — |
Countries
Japan
Contacts
Public ContactAtsuko Nakasato
Public Health Research Foundation Comprehensive Support Project for Health Outcomes Research (CSP-HOR)
Outcome results
None listed