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Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome

NCT05400278 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2025-08-07

No results posted yet for this study

Summary

Bardet-Biedl syndrome (BBS; OMIN #209900) is a rare genetic disorder characterized by six core features: rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning difficulties. This study aims to contribute to genetic and medical knowledge of BBS, and to provide information on quality of life in adults with BBS and their close relatives. Participants will undergo medical assessments (ocular, oral, and physical examinations) and self-reporting of quality of life, diet, cognitive and emotional symptoms. There are some known genotype-phenotype associations in BBS and participants will be offered genetic testing. It is important to map both genotype and associated phenotype in order to provide optimal treatment and follow-up. Individuals with BBS, age 16 years or older, will be invited to participate. The investigators expect to enroll at least 25 male and female adults with BBS and 15 of their parents to participate in qualitative interviews. These interviews will investigate parents' experiences having a child with BBS, satisfaction with health care services, experience with social and family life, and psychological health.

Conditions

Interventions

OTHER

No intervention

No intervention

Sponsors & Collaborators

  • Lovisenberg Diakonale Hospital

    collaborator OTHER

  • Sykehuset Telemark

    collaborator OTHER_GOV

  • Oslo University Hospital

    lead OTHER

Principal Investigators

  • Charlotte von der Lippe, MD, PhD · Oslo University Hospital

Eligibility

Min Age
16 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-02-01
Primary Completion
2023-03-31
Completion
2023-03-31

Countries

  • Norway

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05400278 on ClinicalTrials.gov