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

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.

Study Overview

• Status: Recruiting
• Conditions: Metabolic Diseases
• Intervention / Treatment: Other: Questionnaire; Other: Calculation of the metabolic balance score

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Hélène Morel; Phone Number: +33 01 71 19 63 46; Email: helene.morel@aphp.fr
• Study Contact Backup: Name: Margaux GASCHIGNARD, M.D.; Phone Number: +33 01 44 49 40 23; Email: margaux.gaschignard@aphp.fr

Study Locations

• France
  • Paris, France, 75015
    • Recruiting
    • Hôpital Necker-Enfants Malades
    • Contact: Hélène Morel; Phone Number: +33 01 71 19 63 46; Email: helene.morel@aphp.fr
    • Contact: Margaux GASCHIGNARD, M.D.; Phone Number: +33 01 44 49 40 23; Email: margaux.gaschignard@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

• All patients followed in the Hereditary Metabolic Diseases department of Necker Hospital during their visit to the department for their usual care and having a specific daily oral medication treatment.
• Children aged at least 7 years and adolescents/young adults
• Holders of parental authority and children or adolescents or adults' patients informed and consenting to participate in the study

Exclusion Criteria:

• Metabolic disease without oral medication (intravenous treatments, amino acid mixtures, and dietary regimens are not evaluated).
• Patient and parents not proficient in French.
• Refusal by the patient's holders of parental authority or adult patient to participate in the study and/or refusal of the child/adolescent.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Patients; 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; 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.; Other: Calculation of the metabolic balance score; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Assessment of therapeutic adherence	Therapeutic adherence score, established from the declarations of patients and their parents to the study questionnaire.	Time 0

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 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 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 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 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 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 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 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 0

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC-CIC Paris Descartes Necker Cochin
• Investigators: Principal Investigator: Margaux MD GASCHIGNARD, M.D., Assistance Publique - Hôpitaux de Paris; Study Director: Pascale de LONLAY, M.D., PhD, Assistance Publique - Hôpitaux de Paris

Publications and helpful links

General Publications

• Modi AC, et al. "Adolescent adherence to antiepileptic drug therapy: determinants and clinical outcomes." JAMA, 2011.
• Maestri NE, et al. "Outcome of urea cycle disorder patients: importance of metabolic control and compliance." Journal of Pediatrics, 1996.
• Ten Hoedt AE, et al. "Adherence to treatment in phenylketonuria: challenges and improvements." Molecular Genetics and Metabolism, 2011.

Study record dates

Study Major Dates

• Study Start (Actual): February 23, 2026
• Primary Completion (Estimated): February 23, 2028
• Study Completion (Estimated): February 23, 2028

Study Registration Dates

• First Submitted: December 17, 2025
• First Submitted That Met QC Criteria: January 14, 2026
• First Posted (Actual): January 21, 2026

Study Record Updates

• Last Update Posted (Actual): March 10, 2026
• Last Update Submitted That Met QC Criteria: March 9, 2026
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Keywords: Medication adherence; Metabolic disease; Daily oral drug treatment; Therapeutic education workshop
• Additional Relevant MeSH Terms: Behavior; Nutritional and Metabolic Diseases; Treatment Adherence and Compliance; Health Behavior; Patient Compliance; Patient Acceptance of Health Care; Metabolic Diseases; Medication Adherence; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires
• Other Study ID Numbers: APHP251413

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No