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

NCT05070988 | Completed

• 2 other identifiers: APHP2108902021-A00429-32
• Study Type: observational
• Target: 28
• Locations: 1 country
• Sites: 1

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.

Conditions

Rare Diseases

Keywords

Rare diseases; Oral health-related quality of life; Qualitative method

Outcome Measures

Primary Outcomes (1)

• Oral health-related quality of life assessment

  Qualitative method from a semi-structured interview.

  Day 0

Secondary Outcomes (2)

• Description of oral health care pathways

  Day 0

• Inequalities in access to oral health care

  Day 0

Study Arms (1)

Rare diseases

Children and adult patients with rare diseases and followed at the Necker Enfant Malades Hospital, Paris

Other: Semi-structured interview

Interventions

Semi-structured interview OTHER

Semi-structured interview with the investigating doctor of the study lasting 30 minutes to an hour

Rare diseases

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Patients who do not speak French

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

Related Publications (1)

• 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.

  PMID: 37349716 BACKGROUND

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Lisa Friedlander, DDS, PHD, associate professor

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 27, 2021
• First Posted: October 7, 2021
• Study Start: October 20, 2021
• Primary Completion: November 29, 2021
• Study Completion: November 29, 2021
• Last Updated: September 12, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)