Study on Medication Adherence in Children and Young Adults with Metabolic Diseases at Necker Hospital

What this Trial Is About

This research aims to evaluate treatment adherence among patients with inherited metabolic diseases who are followed at the Department of Inherited Metabolic Diseases at Necker Hospital. The study focuses on children aged 7 years and older, adolescents, and young adults who receive specific oral medication treatments. It addresses the limited data on treatment adherence in this population and seeks to understand the need for a therapeutic education workshop to improve medication adherence. Participants will complete a pseudonymized questionnaire assessing their treatment adherence, understanding of their disease, knowledge of their medications, and the number of oral medications taken each day. This questionnaire is administered during routine follow-up visits, which may occur during consultations, day hospital stays, or conventional hospitalizations. For patients with urea cycle deficiency, an additional metabolic balance score will be calculated from retrospective medical record data covering the two years before completing the questionnaire. During the study, participants andor their parents will provide information through the questionnaire without their responses being shared with their treating physicians. Researchers will analyze therapeutic adherence and explore correlations with age, medication knowledge, disease understanding, and metabolic control in urea cycle deficiency patients. The study lasts from February 2026 to February 2028, with assessments conducted at the time of questionnaire completion.

Evaluation of Therapeutic Adherence Among Patients Followed in the Department of Hereditary Metabolic Diseases at Necker Hospital