- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05400278
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
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Oslo, Norway, 0373
- Oslo University Hospital
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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.
Study Plan
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
The Medical Outcome Study 36-item Short Form Health Survey (SF-36)
Time Frame: Feb 2022-Dec 2026
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Health related quality of life (HRQOL) including measures of Physical and mental HRQOL.
The SF-36 is a generic quality of life scale which has been validated in Norway.
SF-36 evaluates eight domains of health: physical functioning, role limitation due to physical problems, bodily pain, general perception of health, social functioning, role limitations due to emotional functioning, vitality and mental health.
Items on each scale are summed to yield a score from 0-100.
A higher score means better quality of life.
A license from Quality Metric is used for scoring (License number QM051240).
The eight domains are summarized into physical component summary scores and mental component summary scores.
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Feb 2022-Dec 2026
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Needs and Provision Complexity Scale
Time Frame: Feb 2022-Dec 2026
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Presence of health care needs.
This is an interview that evaluates the needs for healthcare and social support services.
It has two parts: Part A (Needs) is completed by the clinician to evaluate each patient's need for health and social care; and Part B (Gets) is to evaluate to which these needs are met through the services that have been provided, based on information provided by the patient and a close relative.
Each part includes 15 items with a total scoring range of 0-50 covering low and high levels of needs.
There are six subscales representing two domains: Health and personal care needs, and Social and support needs.
This scale was developed in the UK for neurological conditions and has been translated and used in Norway.
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Feb 2022-Dec 2026
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Behavioral Rating Inventory of Executive Function- Adult Version
Time Frame: Feb 2022-Dec 2026
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Assessing cognitive problems.
BRIEF-A is a measure of everyday executive functions using self-reports.
It includes 75 items that assess nine aspects of executive functioning symptoms of everyday life.
Raw scores are transformed into age-corrected T-scores.
Higher T-scores mean better executive function.
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Feb 2022-Dec 2026
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Short Physical Performance Battery;
Time Frame: Feb 2022-Dec 2026
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Assessing physical problems.
This is a group of measures that combines the results of the gait speed, chair stand and balance tests.
The scores range from 0 (worst performance) to 12 (best performance).It has been used as a predictive tool for possible disability.
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Feb 2022-Dec 2026
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The Hospital Anxiety and Depression Scale;
Time Frame: Feb 2022-Dec 2026
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Assessing anxiety and depression symptoms.
This is a generic instrument used to address symptoms of depression and anxiety.
The two subscales (anxiety, depression) consist of seven items rated on a four-point scale from 0 (no symptom) to three (severe symptom).
A score of >7 on either subscale indicates at least a mild level of depressive or anxiety symptoms.
A total HADS score may be used as a global measure of psychological distress.
It is widely used in various somatic and psychiatric populations.
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Feb 2022-Dec 2026
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Three Factor Eating Questionnaire-R21
Time Frame: Feb 2022-Dec 2026
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Assessing eating habits.
This is a frequently used validated scale that measures three domains of eating behavior (cognitive restraint, uncontrolled eating and emotional eating).
The first 20 items are rated on a 4-point Likert scale and the item 21 is answered through an 8-point Likert scale.
Scores range from 0-100, with higher scores being indicative of greater restraint eating.
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Feb 2022-Dec 2026
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Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Charlotte von der Lippe, MD, PhD, Oslo University Hospital
Study record dates
Study Major Dates
Study Start (ACTUAL)
Primary Completion (ANTICIPATED)
Study Completion (ANTICIPATED)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ACTUAL)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Eye Diseases
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Hypothalamic Diseases
- Eye Diseases, Hereditary
- Abnormalities, Multiple
- Ciliopathies
- Retinitis Pigmentosa
- Syndrome
- Bardet-Biedl Syndrome
- Laurence-Moon Syndrome
Other Study ID Numbers
- 166639
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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