Bardet-Biedl SyndromeCOBBALTNCT04461444
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
A study testing Skin biopsy in people with Bardet-Biedl Syndrome and Alström Syndrome, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. Read more about this study
- Who is it for?
- Ages 4 months and older
- Conditions the study is for
- Bardet-Biedl Syndrome, Alström Syndrome
- What is being tested?
- Skin biopsy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 350 participants
- Where
- 1 siteFrance
- Study dates
- 16 Jun 2020to Feb 2035
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 4 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients of both sex
- Age minimum*
- patients with social protection
- Written informed consent form signed prior initiating any trial related procedure:
- by > 18-year old patients
- by both parents for minor patients > 4 months or legal representative for protected adults, and by minor and protected adults patients if able to understand and/or give their assent.
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- For foreign patients, a third party will translate, if required, the information prior to the consent.
- a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation/or patient with mutation and none of the diagnosis criteria
- and/or an identified mutation in BBS genes or ALMS1 gene
- The inclusion of children is essential to a cohort study that is attempting an early identification of visual, metabolic and renal abnormalities. Many of the age-dependent manifestations of BBS develop during childhood and the average age of diagnosis is 9.2 years
Who cannot join
- Serious active intercurrent pathology that may impact the collected data
- Patient under judicial protection
- Participation in another interventional clinical trial which includes an exclusion period
- Non protected adult with difficulty of comprehension, or inability to understand the delivered information (emergency situation ...).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, 67098
Hélène DOLLFUS, +33 3.69.55.19.55, helene.dollfus@chru-strasbourg.fr
Sylvie ROSSIGNOL
About this study
Official title: COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life.
The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations
- Conditions
- Bardet-Biedl Syndrome, Alström Syndrome
- Being tested
- Skin biopsy
- Medical subject headings
- Bardet-Biedl Syndrome, Alstrom Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsyGenetic
COBBALT is considered as an interventional with minor associated risks and constrains study due to the presence of skin biopsies that may not all be part of the usual medical practice. Risks are those linked to the biopsy procedure:
- risk of pain due to the procedure performed under local anaesthesia
- can leave a visible scar (about 2 x 1 cm)
| Study group | Role | What they receive |
|---|---|---|
| Group ALMS et BBS | Other | Not described Receives: Genetic: Skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
renal function, eyes, endocrine, Clinical Examination
Measured: 5 years
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of biological results
Measured: 5 years
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of Social Life with questionnaire
Measured: 5 years
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of treatments (therapy and surgery)
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jul 2020
- Study start16 Jun 2020
- Primary completionFeb 2025 (estimated)
- Study completionFeb 2035 (estimated)
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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 350 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04461444
- Sponsor's protocol ID
- 7076
- Acronym
- COBBALT
- Status last verified
- Sep 2021
- First submitted
- 21 Jan 2019
- Last updated
- 10 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
- ClinicalTrials.gov ID
- NCT04461444
- Acronym / sponsor ID
- COBBALT / 7076
- Conditions
- Bardet-Biedl Syndrome, Alström Syndrome
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 350 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 16 Jun 2020 (actual)
- Primary completion
- Feb 2025 (estimated)
- Study completion
- Feb 2035 (estimated)
- First posted
- 8 Jul 2020 (actual)
- 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.
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life.
The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations
Study design
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Group ALMS et BBS | Other | Genetic: Skin biopsy |
Who may qualify
- Ages
- 4 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (10 listed)
- Patients of both sex
- Age minimum*
- patients with social protection
- Written informed consent form signed prior initiating any trial related procedure:
- a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation/or patient with mutation and none of the diagnosis criteria
Key exclusion criteria (4 listed)
- Serious active intercurrent pathology that may impact the collected data
- Patient under judicial protection
- Participation in another interventional clinical trial which includes an exclusion period
- Non protected adult with difficulty of comprehension, or inability to understand the delivered information (emergency situation ...).
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 |
|---|---|---|
| Skin biopsyCOBBALT is considered as an interventional with minor associated risks and constrains study due to the presence of skin biopsies that may not all be part of the usual medical practice. Risks are those linked to the biopsy procedure: * risk of pain due to the procedure performed under local anaesthesia * can leave a visible scar (about 2 x 1 cm) | Genetic | Group ALMS et BBS |
Primary outcome
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Time frame: 5 years
renal function, eyes, endocrine, Clinical Examination
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Time frame: 5 years
Record of biological results
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Time frame: 5 years
Record of Social Life with questionnaire
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Time frame: 5 years
Record of treatments (therapy and surgery)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Sep 2021.
- Individual participant dataSharing planned: Undecided
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Skin biopsy in people with Bardet-Biedl Syndrome and Alström Syndrome, 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 10 inclusion and 4 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: looking for participants now, as of the sponsor's last update on 10 Sep 2021. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Hélène DOLFFUS (+33.3.69.55.19.55, helene.dollfus@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). (time frame: 5 years). The study lists 4 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 10 Sep 2021.