Health-related quality of life in children and adolescents with Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD)
Recruiting
- Conditions
- E71.3Disorders of fatty-acid metabolism
- Registration Number
- DRKS00032765
- Lead Sponsor
- niversität Leipzig
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 25
Inclusion Criteria
MCADD diagnosis by newborn screening and enzymatic and/or genetic confirmation of diagnosis
-From birth until 18 years of age
-Signed consent (patients and caregivers)
-No life-threatening metabolic crisis until study enrollment
Exclusion Criteria
-MCADD diagnosis in the context of a metabolic crisis and not through newborn screening
-Patients proved to be heterozygote for MCADD after positive new born screening
-Additional severe chronical diseases with regular use of medication or dietary treatment
-participation in another interventional trial
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Evaluation of health-related quality of life in pediatric patients with MCADD never experienced metabolic crisis until study enrollment., using KINDL questionnaire during a regular visit in the outpatient clinic for inborn errors of metabolism,
- Secondary Outcome Measures
Name Time Method Anthropometric data, metabolic control, occurrence of metabolic crises, influence of family planning