Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach

Study Overview
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Brief Summary
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The main objective of the study is to assess the oral health-related quality of life of patients with rare diseases and followed in the rare disease centers of expertise at Necker Hospital in Paris by semi-structured interviews.

Detailed Description
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To date, few studies have used the qualitative method to analyze the oral health-related quality of life and the oral health care pathways of patients with rare diseases, all health sectors combined. The quantitative studies carried out using standardized questionnaires offer only a partial view of how patients feel, both children and adults. The main objective of the study is to assess the oral health-related quality of life of patients with rare diseases and followed in the rare disease centers of expertise at Necker Hospital in Paris by means of a semi-structured interview.

Official Title
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Oral Health Related Quality of Life of Patients With Rare Diseases Followed at Necker Hospital: a Qualitative Approach

Conditions
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Rare Diseases

Intervention / Treatment
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* Other: Semi-structured interview


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Minor and adult patients with rare diseases aged of at least 6 years old and followed at the Necker Enfant Malades Hospital, Paris Patients with the 3 most frequent rare diseases of each rare disease Necker reference center participating in the study (10 centers : Chronic And Malformative Disorders Of The Esophagus / Inflammatory diseases of the bile ducts and autoimmune hepatitis / Constitutional Bone Diseases / Inherited Metabolic Diseases / Biliary Atresia And Genetic Cholestases / Vascular Diseases Of The Liver / Developmental Anomalies and Malformative Syndromes of Ile-De-France / Rare Causes Intellectual Disabilities / Complex congenital heart defects / Childhood cerebrovascular pathologies) Patients who consulted between 1.1.2017 and 1.1.2020 the relevant rare disease reference center at Necker hospital Patients seen at least once in the medical genetics department of Necker Hospital Information and non-opposition of adult patients / holders of parental authority of minor patients and minor patients to participate in the study Exclusion Criteria: Patients who do not speak French

Ages Eligible for Study
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Minimum Age: 6 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Rare diseases<br>Children and adult patients with rare diseases and followed at the Necker Enfant Malades Hospital, Paris | Other: Semi-structured interview<br>* Semi-structured interview with the investigating doctor of the study lasting 30 minutes to an hour<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Oral health-related quality of life assessment | Qualitative method from a semi-structured interview. | Day 0 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Description of oral health care pathways | Description from the semi-structured interviews. | Day 0 | 
| Inequalities in access to oral health care | Description of inequalities in access to oral health care. Description from the semi-structured interviews. | Day 0 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Rare diseases, Oral health-related quality of life, Qualitative method