Quality of Life of Patients and Theirs Parents With Inherited Metabolic Diseases With Restricted Diet (MHMRSQol)

Public Assistance-Hospitals of Marseille (AP-HM)

Status: Unknown

Conditions: Inherited Metabolic Diseases Requiring Restrictive and Specific Diet

Treatments: Behavioral: data assessment of the state of health and quality of life of patients and their families

Study type: Interventional

Funder types: Other

Identifiers

NCT02552784

2014-38

2014-A01874-43 (Registry Identifier)

Details and patient eligibility

About

The general objective is study medical, socioeconomic, behavioral, health environmental, school and professional integration, and short- and medium- term quality of life determinants for all patients under 18 years old, residing in France for which the diagnosis of inherited metabolic diseases with specific regime (MHMRS) has been achieved during their childhood.

Full description

The study population is a dynamic/open cohort consists of all patients MHMRS diagnosed and supported in one of the six Centers of Reference for Metabolical disease or one of the three Centers of Competence for Hereditary Metabolic Diseases or in the Center of Réference for Hereditary liver Metabolism Diseases since 2000. For each patient, the date of entry into the cohort is the diagnostic date of MHMRS. The study includes all prevalent and incident cases .

The evaluations include all data collected by querying patients and their families and medical data collected by the medical team.

The data collected concern in one hand explanatory variables characterizing the state of health and quality of life of patients, on the other variables describing the factors considered as potential determinants, namely:

• Socio -demographic and socio-economic on the patient and family.
• Clinical and therapeutic relative to the patient : age at the time of diagnosis, illness and consequences, type of treatment and diet.
• On possible alterations of physical health: overall assessment of the importance of using health professionals and specific description of the various physical health problems.
• Psycho- behavioral and cognitive.
• Quality of life of patients and their family.
• On the patient's relationship with the care system (access to care and satisfaction).

The frequency of evaluations is 2 years. The evaluation will be at a consultation in the usual medical monitoring way up conducted in these children, allowing to collect clinical information directly nearby medical teams that support them.

The various measurement tools used are:

• STAI-C and STAI-Y
• BRIEFCOPE and KIDCOPE
• GOODMAN questionnaire
• FAS questionnaire
• WECHSLER scale
• VSPA, VSPA-e and VSPA-p
• QUALIN
• WHOQOL-BREF

The project is under the authority of a Steering Committee comprising representatives of all the partners in the project teams. The project is supervised by the Scientific Council of the SFEIM (Société Francaise pour les Erreurs Inées du Métabolisme) and the G2M (Groupement des centres de référence et de compétence des Maladies héréditaires du Métabolisme) which is consulted on the scientific guidance of the project.

At the end of a study report will be prepared. It will detail all the decisions inherent in the conduct of the project and the results obtained. This report will be sent to the Ministry of Health under the cover of the Delegation for Clinical Research. The report will form the basis of the adjacent communications will be co-signed by the members of the Steering Committee and will reference the origin of the aid received.

Enrollment: 763 estimated patients

Sex: All

Ages: Under 17 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

Included in MHMRS databases from different centers

• Age less than 18 years at diagnosis

• Diagnostic MHMRS made from 01/01/2000

• Treatment and management of MHMRS initiated in one of the clinical sites

• Living in France

  • Living
  • Compliance with criteria for inclusion in the cohort
  • Having agreed to participate in the study
  • Allowed to participate in the study by the parents or legal guardians for any minor subject.

Exclusion criteria

• Can't be included subjects not complying with at least one of the inclusion criteria previously mentioned .

• Excludes all subjects at least one of the following criteria:

  • Moving outside France after baseline ( initial treatment performed in one of the participating centers )
  • Withdrawal of consent / refusal of monitoring;
  • Not responding at three successive waves of investigation.

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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763 participants in 1 patient group

patients and their parents with inherited metabolic diseases

Experimental group

Description:

The population is a dynamic/open cohort consists of all patients MHMRS diagnosed and supported in one of the six Centers of Reference for Metabolical disease or one of the three Centers of Competence for Hereditary Metabolic Diseases or in the Center of Réference for Hereditary liver Metabolism Diseases since 2000. For each patient, the date of entry into the cohort is the diagnostic date of MHMRS. The study includes all prevalent and incident cases .

Treatment:

Behavioral: data assessment of the state of health and quality of life of patients and their families