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

Bardet-Biedl Syndrome Clinical Trial

Official title: Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome

Status Enrolling by invitation

Clinical Trial 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.

Clinical Trial Description

Improved care for adults with BBS living in Norway necessitates increased knowledge of pertinent health-related, emotional, and educational, employment and psychosocial issues. Adults with BBS living in Norway may face new challenges and have unmet healthcare needs. Therefore, the investigators intend to evaluate the adult with BBS as a person with special needs (e.g. need for support systems, lack of social opportunities, and mental health problems) and long-term challenges.This project will describe the visual, medical, physical, nutritional, and psychological difficulties experienced by people with BBS. The planned multi-disciplinary clinical evaluation in this study can help address the existing knowledge gaps. Relatives who help their loved ones with various activities of daily living may experience reduced quality of life and altered social roles. Therefore, the investigators also want to study the quality of life and psychological status of close relatives. This project might contribute information for new clinical protocols and suggest areas for further research in genetics, healthcare needs and quality of life for people living with BBS. ;

Related Conditions & MeSH terms

• Bardet-Biedl Syndrome
• Syndrome

• NCT number: NCT05400278
• Study type: Observational
• Source: Oslo University Hospital
• Status: Enrolling by invitation
• Start date: February 1, 2022
• Completion date: December 31, 2026