An observational study in Metabolic Diseases, sponsored by Assistance Publique - Hôpitaux de Paris. Recruiting at 1 site in France. Open to participants aged 7 Years to 20 Years. Per ClinicalTrials.gov, last updated 2026-06-30.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
The purpose of this study is to evaluate treatment adherence among patients followed in the Department of Inherited Metabolic Diseases at Necker Hospital, in order to assess the need for implementing a therapeutic education workshop focused on medication adherence.
There is limited data in the literature regarding treatment adherence in children with metabolic disorders. A 2011 study on phenylketonuria highlighted a decline in dietary adherence during adolescence. Another study, dating from 1996 and focusing on urea cycle disorders, emphasized the importance of good treatment adherence for maintaining disease control. Furthermore, larger-scale research in epileptic patients has identified several barriers to treatment compliance, highlighting the crucial role of treatment adherence in improving disease control.
The purpose of this study is to evaluate treatment adherence among patients followed in the Department of Inherited Metabolic Diseases at Necker Hospital, in order to assess the need for implementing a therapeutic education workshop focused on medication adherence.
Patients followed in the department of hereditary metabolic diseases at Necker Hospital, having specific oral drug treatment, and having a scheduled care appointment at Necker Hospital as part of their usual follow-up, during the study inclusion period.
Exclusion Criteria:
Patients, children aged at least 7 years and adolescents/young adults followed in the pediatric department of hereditary metabolic diseases of Necker Hospital, having specific oral drug treatment.
Other: Questionnaire · Other: Calculation of the metabolic balance score
A pseudonymized questionnaire assessing treatment adherence, understanding of the illness, knowledge of medications, and the number of oral medications taken is given to patients and/or their parents during a follow-up visit, whether in a consultation, day hospital, or conventional hospitalization. It is completed by parents and children aged 7 and older, as well as by adolescents and young adults. The responses will not be disclosed to the physicians in the department.
For patients with urea cycle deficiency, a metabolic balance score will be calculated independently from retrospective data from the medical record, in the last two years preceding the completion of the questionnaire.
Assessment of therapeutic adherence
Therapeutic adherence score, established from the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Number of treatments taken each day
Quantification of the number of medications taken daily based on the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Knowledge of the disease
Assessment of patients' and their parents' knowledge of the disease establish from the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Knowledge of treatments
Accordance of patients' and their parents' knowledge of treatments, based on the declarations of patients and their parents in the study questionnaire and the patient's prescriptions in the medical record.
Time frame: Time 0
Correlation between the therapeutic adherence score and the number of medications taken daily by patients
The therapeutic adherence score and the number of medications taken daily are established from the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Correlation between the therapeutic adherence score and the age of patients
Therapeutic adherence score, established from the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Correlation between the therapeutic adherence score and patients' and their parents' knowledge of the disease
The therapeutic adherence score and the knowledge of the disease are established from the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Correlation between the therapeutic adherence score and patients' and their parents' knowledge of treatments
The therapeutic adherence score and the knowledge of treatments are established from the declarations of patients and their parents to the study questionnaire and on the patient's prescription.
Time frame: Time 0
Correlation between therapeutic adherence score and metabolic balance for patients cared for urea cycle deficiency
For patients with urea cycle deficiency, a metabolic balance score will be calculated independently from retrospective data from the medical record, in the last two years preceding the completion of the questionnaire based on the following clinical data: * Number of ammonia levels \> 100 µmol/L, * Mean and median follow-up ammonia levels, * Number of glutamine levels \> 1000 µmol/L, * Number of hospitalizations for decompensation.
Time frame: Time 0
Assessment of medication adherence in the event of a travel
Assessment of patients' and their parents' medication adherence in the event of a travel, established from the declarations of patients and their parents to the study questionnaire.
Time frame: Time 0
Plan to share: No
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Assistance Publique - Hôpitaux de Paris