Clinical trial NCT05400278: Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Official title: Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Bardet-Biedl Syndrome
Keywords: Retinitis Pigmentosa
Obesity
Polydactyly
Bardet-Biedl Syndrome
Cognitive deficits
Lead sponsor: Oslo University Hospital
Sponsor class: OTHER
Collaborators: name: Lovisenberg Diakonale Hospital
name: Sykehuset Telemark
First posted: 2022-06-01
Enrollment: 40
Sex: ALL
Minimum age (years): 16
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Individuals with BBS, age 16 years or older

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 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.

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 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.

Eligibility criteria: Inclusion Criteria:

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 Criteria:

Individuals age \< 16 years, current severe illness or known diagnosis of autism.

Primary outcomes:
measure: The Medical Outcome Study 36-item Short Form Health Survey (SF-36)
timeFrame: Feb 2022-Dec 2026
measure: Needs and Provision Complexity Scale
timeFrame: Feb 2022-Dec 2026
measure: Behavioral Rating Inventory of Executive Function- Adult Version
timeFrame: Feb 2022-Dec 2026
Secondary outcomes:
measure: Short Physical Performance Battery;
timeFrame: Feb 2022-Dec 2026
measure: The Hospital Anxiety and Depression Scale;
timeFrame: Feb 2022-Dec 2026
measure: Three Factor Eating Questionnaire-R21
timeFrame: Feb 2022-Dec 2026
Other outcomes:
Locations:
city: Oslo
country: Norway
facility: Oslo University Hospital
Study officials:
affiliation: Oslo University Hospital
name: Charlotte von der Lippe, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: