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Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
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.
Details
| Lead sponsor | Oslo University Hospital |
|---|---|
| Status | COMPLETED |
| Enrolment | 30 |
| Start date | Tue Feb 01 2022 00:00:00 GMT+0000 (Coordinated Universal Time) |
| Completion | Fri Mar 31 2023 00:00:00 GMT+0000 (Coordinated Universal Time) |
Conditions
- Bardet-Biedl Syndrome
Interventions
- No intervention
Countries
Norway