Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach (RaroDentAXE3)

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

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.

Study Overview

• Status: Completed
• Conditions: Rare Diseases
• Intervention / Treatment: Other: Semi-structured interview

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.

• Study Type: Observational
• Enrollment (Actual): 28

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Hôpital Necker-Enfants Malades

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• 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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC Necker Cochin, France
• Investigators: Principal Investigator: Lisa Friedlander, DDS, PHD, associate professor, Assistance Publique - Hôpitaux de Paris

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): October 20, 2021
• Primary Completion (Actual): November 29, 2021
• Study Completion (Actual): November 29, 2021

Study Registration Dates

• First Submitted: September 27, 2021
• First Submitted That Met QC Criteria: September 27, 2021
• First Posted (Actual): October 7, 2021

Study Record Updates

• Last Update Posted (Estimated): September 12, 2025
• Last Update Submitted That Met QC Criteria: September 5, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Qualitative method; Rare diseases; Oral health-related quality of life
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Pathological Conditions, Signs and Symptoms; Rare Diseases
• Other Study ID Numbers: APHP210890; 2021-A00429-32 (Other Identifier: ID RCB number)

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
• product manufactured in and exported from the U.S.: No