Clinical trial NCT05070988: Oral Health Related Quality of Life of Patients with Rare Diseases: a Qualitative Approach
Official title: Oral Health Related Quality of Life of Patients with Rare Diseases Followed At Necker Hospital: a Qualitative Approach
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Rare Diseases
Keywords: Rare diseases
Oral health-related quality of life
Qualitative method
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-10-07
Enrollment: 28
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population is that of the centers of expertise for rare diseases at the Necker Hospital in Paris, France.

Brief summary: 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: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Oral health-related quality of life assessment
timeFrame: Day 0
Secondary outcomes:
measure: Description of oral health care pathways
timeFrame: Day 0
measure: Inequalities in access to oral health care
timeFrame: Day 0
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Lisa Friedlander, DDS, PHD, associate professor
role: PRINCIPAL_INVESTIGATOR
References:
citation: Friedlander L, Berdal A, Cormier-Daire V, Lyonnet S, Garcelon N. Determinants of dental care use in patients with rare diseases: a qualitative exploration. BMC Oral Health. 2023 Jun 22;23(1):413. doi: 10.1186/s12903-023-03048-1.