Bardet-Biedl SyndromeNCT00213811
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
An observational study of Bardet-Biedl Syndrome and Orphan Diseases, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Bardet-Biedl Syndrome, Orphan Diseases
- What is being tested?
- clinical, biological, and radiological
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2003to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- Child, Adult, Older adult
Who may be able to join
- Adult (age over 16 years old)
- At least 3 of the five major criteria (retinitis pigmentosa, obesity, polydactyly, cognitive impairment, and kidney disorder) and/or BBS mutations identified
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. In parallel, a molecular study is performed on the known genes to date (8 genes from BBS1 to BBS8) and to identify new genes involved. The parts of the study are combined in a phenotype-genotype correlation study.
- Conditions
- Bardet-Biedl Syndrome, Orphan Diseases
- Being tested
- clinical, biological, and radiological
- Keywords
- Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes
- Medical subject headings
- Bardet-Biedl Syndrome, Rare Diseases, Retinitis Pigmentosa, Obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
clinical, biological, and radiologicalBehavioural
What is being measured
The primary outcome is the main question the study is designed to answer.
Outcome evaluated end 2005 and 2006
Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification
Secondary outcomes (1)
This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2005 (estimated)
- Study startJun 2003
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bardet-Biedl SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 40 participants
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Investigators
- Hélène Dollfus, MD, Principal investigator, Fédération GénétiqueJ-Louis Mandel, MD, Principal investigator, IGBMCPascal Bousquet, MD, Principal investigator, CIC StrasbourgChristian Brandt, MD, Principal investigator, CIC StrasbourgCatherine Arnold, MD, Principal investigator, CIC StrasbourgAlain Verloes, MD, Principal investigator, Unité de Génétique Robert DebréRégis Hanfard, MD, Principal investigator, CIC Robet DebréDidier Lacombe, MD, Principal investigator, Service de Génétique Médicale/Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00213811
- Sponsor's protocol ID
- 2899
- Status last verified
- Aug 2008
- First submitted
- 13 Sep 2005
- Last updated
- 8 Aug 2008
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Aug 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults
- ClinicalTrials.gov ID
- NCT00213811
- Acronym / sponsor ID
- 2899
- Conditions
- Bardet-Biedl Syndrome, Orphan Diseases
- Keywords
- Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Jun 2003
- First posted
- 21 Sep 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. In parallel, a molecular study is performed on the known genes to date (8 genes from BBS1 to BBS8) and to identify new genes involved. The parts of the study are combined in a phenotype-genotype correlation study.
Study design
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Adult (age over 16 years old)
- At least 3 of the five major criteria (retinitis pigmentosa, obesity, polydactyly, cognitive impairment, and kidney disorder) and/or BBS mutations identified
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| clinical, biological, and radiological | Behavioural | – |
Primary outcome
Outcome evaluated end 2005 and 2006
Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification
1 secondary outcome
This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Aug 2008.
Related trials for Bardet-Biedl Syndrome
RecruitingEarly Phase 1
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
Bardet-Biedl Syndrome 1, Retinal Degeneration
RecruitingPhase 4
Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity
Bardet Biedl Syndrome (BBS), Bardet Biedl Syndrome
RecruitingObservational study
ARPKD Database Study
Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease
RecruitingObservational study
Inherited Retinal Degenerative Disease Registry
Eye Diseases Hereditary, Retinal Disease
Active, not recruitingObservational study
Early Genetic Identification of Obesity
Obesity, Childhood, Hyperphagia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Hélène Dollfus, MD principal investigator
Fédération Génétique
J-Louis Mandel, MD principal investigator
IGBMC
Pascal Bousquet, MD principal investigator
CIC Strasbourg
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Bardet-Biedl Syndrome and Orphan Diseases, run by University Hospital, Strasbourg, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Aug 2008. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Outcome evaluated end 2005 and 2006. The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Aug 2008.