Determinants of Health Status and Quality of Life of Patients and Their Parents With Inherited Metabolic Diseases Diagnosed During Childhood and Requiring Restrictive and Specific Diet
Trial Snapshot
- Phase
- Not Applicable
- Enrollment
- 763
- Locations
- 1
- Primary Endpoint
- Patient's anxiety assessment
Study Overview
Brief Summary
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.
Detailed 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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Other
- Masking
- None
Eligibility Criteria
- Ages
- — to 17 Years (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
- •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.
Arms & Interventions
patients and their parents with inherited metabolic diseases
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 .
Intervention: data assessment of the state of health and quality of life of patients and their families (Behavioral)
Outcomes
Primary Outcomes
Patient's anxiety assessment
Time Frame: 6 years
Anxiety assessment of children by autoquestionnaires: STAI-C (8-10 years old); STAI-Y (11-17 years old); STAI (patients becoming adults)
Assessment of adaptive coping strategies of patients
Time Frame: 6 years
Assessment of adaptive coping strategies of patients by questionnaires (BriefCope for adults patients, Kidcope for young patients)
Patient's behavior assessment
Time Frame: 6 years
Assessment of child's behavior by Strengths and difficulties questionnaires and assessment of adult's behavior by the sociale adaptation scale (Weintraub scale)
Patient's quality of life assessment
Time Frame: 6 years
Patient's quality of life assessment by VSP-A questionnaire
Parent's quality of life assessment
Time Frame: 6 years
Parent's quality of life assessment by WHOQOL-BREF questionnaire
Assessment of adaptive coping strategies of parents
Time Frame: 6 years
Assessment of adaptive coping strategies of parents by BriefCope questionnaire
Parent's anxiety assessment
Time Frame: 6 years
Parent's anxiety assessment by STAI questionnaire
Secondary Outcomes
No secondary outcomes reported