Status:
COMPLETED
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Lead Sponsor:
Oslo University Hospital
Collaborating Sponsors:
Lovisenberg Diakonale Hospital
Sykehuset Telemark
Conditions:
Bardet-Biedl Syndrome
Eligibility:
All Genders
16-80 years
Brief 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 anoma...
Detailed 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 ...
Eligibility Criteria
Inclusion
- Individuals diagnosed with BBS (see below), age 16 years or older. BBS is characterized by six core features : rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning difficulties.
- Additional features include speech delay, developmental delay, diabetes mellitus, dental anomalies, congenital heart disease, brachydactyly (shortening of fingers/toes), ataxia, and anosmia/hyposmia (deficienct sense of smell). A minimum of four of the core features, or three core features and two additional features are required for the clinical diagnosis of BBS.
Exclusion
- Individuals age \< 16 years, current severe illness or known diagnosis of autism.
Key Trial Info
Start Date :
February 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 31 2023
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT05400278
Start Date
February 1 2022
End Date
March 31 2023
Last Update
August 7 2025
Active Locations (1)
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1
Oslo University Hospital
Oslo, Norway, 0373