E71.3
Conditions
Interventions
Group 1: Children and adolescents with MCAD deficiency will be interviewed once on quality of life using the Kindl questionnaire (parent and child version). In addition, retrospective data analysis
Sponsors
Universität Leipzig
Eligibility
Sex/Gender
All
Age
0 Years to 18 Years
Inclusion criteria
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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| Anthropometric data, metabolic control, occurrence of metabolic crises, influence of family planning | — |
Countries
Germany
Contacts
Public ContactSkadi Beblo
Universitätsklinikum Leipzig, Klinik und Poliklinik für Kinder und Jugendliche
Outcome results
None listed