Alström Syndrome (ALMS)NCT02890550
Clinical Study of a Single Ciliopathy: Alström Syndrome
An observational study of Alström Syndrome (ALMS), run by University Hospital, Strasbourg, France at 14 sites in France.
Trial summary
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets. The investigators believe that the clinical consequences of mutations in the gene result ALMS1 unprecedented protests and the ALMS study should… Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Alström Syndrome (ALMS)
- How many people
- 75 participants
- Where
- 14 sitesFrance
- Study dates
- Apr 2014to 5 Apr 2018
- 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 2 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients will be recruited through the investigators' consultation Reference Center for Rare Diseases in Ophthalmological Genetics (CARGO) or sent by their colleagues from other cities including through very geneticists genetic Group or 3rd Thursdays ophthalmologists colleagues. Prior consultation CARGO will disclose the medical records of the intention of the patient to participate in this research (source document).
Who may be able to join
- Age> 2 years
- Affiliated with a social security scheme
- Informed consent signed
- Retinal dystrophy and proved at least three diagnostic criteria Alström syndrome (Criteria Marshall et al, 2005):
- Early obesity
- Deafness
Show all 17Show fewer
- Dilated cardiomyopathy
- Type 2 diabetes
- Hypogonadism
- Absence of polydactyly
- Lack of mental retardation
- A family history of the ALMS
- Mutation in the ALMS gene identified
- Father / Mother of a patient diagnosed with Alström
- Age greater than 18 years
- Affiliated with a social security scheme
- Informed consent signed
Who cannot join
- Current pregnancy (a pregnancy test is routinely performed at baseline)
- Pregnant or breastfeeding women
- Intercurrent diseases do not allow the practice exams in protocol
- Subject to exclusion period (determined by a previous study or a study in progress)
- Age less than 18 years
- Subject to exclusion period (determined by a previous study or a study in progress)
Trial locations and contacts
14 sites in 1 country.
14 sites in 1 country
France14 sites
CMCO, Hôpitaux Universitaires
Schiltigheim, 67300
Centre d'Investigation Clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires
Strasbourg, 67091
Clinique Psychiatrique, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service de Cardiologie, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service de néphrologie et hémodialyse, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service de physiologie et des Explorations Fonctionnelles, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service de Psychothérapie pour Enfants et Adolescents, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service d'Imagerie 1, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, 67098
Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, 67098
Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, 67098
Service de Médecine Interne, Endocrinologie et Nutrition, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, 67098
Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, 67098
Service de Radiologie 2, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, 67098
About this study
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
The investigators believe that the clinical consequences of mutations in the gene result ALMS1 unprecedented protests and the ALMS study should help to be informed, not only about the understanding and decision support other ciliopathies, but also about some common diseases, as some physiopathogenic roads could be common; the rare disease being exacerbated a model of the channel concerned. Secondarily, the clinical data generated by this project will also be used as part of basic research (eg comparison with results in animal models, use of human cells for in vitro studies or transcriptomic ....) (which will be a secondary upgrading to this work).
- Conditions
- Alström Syndrome (ALMS)
- Keywords
- Ciliopathy, Retinitis pigmentosa, ALMS1 gene
- Medical subject headings
- Alstrom Syndrome, Ciliopathies, Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 30 Patients Alström syndrome | Not described | |
| 60 Related patients Alström syndrome | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic Diagnosis
In this project, 8 clinical research modules covering major medical issues goshawks ALMS (Genetic diagnosis, neurosensory infringement (ophthalmology and ENT (hearing and olfaction) and neuro-cognitive impairment), obesity \& diabetes, endocrine achievement, nephrologic achievement, cardiological achievement, pneumologic achievement, reproductive biology). For each module, the current state of knowledge, clinical issues and their impact on the management of short and medium term ALMS patients are detailed. The clinical complications of this disease must be identified rationally and treatment and clinical management optimized on robust foundations for enhanced medical knowledge. The development of targeted therapies will depend on the clinical research data is the basic foundation of work which can then be enriched by the scientific data currently booming in this area.
Measured: 6 months
Neurosensory infringement
- Ophtalmology study: consultation with visual acuity evaluation, examination at the slit lamp, intraocular pressure measurement, fundus examination, evaluation of Goldmann visual field, rétinophotography, standard and multifocal electroretinography, color vision, Optical Coherence Tomography (OCT), orthoptic balance
- proportion of initial macular involvement and impact on future therapeutic trials (eg retina / age thickness)
- consequences of low vision on posterior optical channels (including occipital cortex)
- Olfaction study: brushing the nasal mucosa, isotopic mucociliary clearance, olfactometry (test UPSIT) gustometry, audiogram, otoacoustic emissions, auditory evoked potentials
- Is the origin of deafness endocochlear only?
- OAS are they a predictive test and prognosis?
- Are ALMS patients suffering anosmia as for other ciliopathies?
- Mobile eyelashes respiratory mucosal abnormalities are they like other ciliopathies?
Measured: 6 months
Neurocognitive impairment
Neurocognitive explorations:
- Neuropsychological assessment with cognitive tests, psychiatric evaluation, MRI, to determine if ALMS patients have cognitive impairment.
- Validation of a second population of a new innovative battery of neurocognitive tests for the visually impaired.
Measured: 6 months
Obesity - Diabetes
Study of the origin of obesity:
- Origin central or peripheral obesity?
- Determinism of insulin resistance and diabetes? nutrition consultation, impedance, basal calorimetry and OGTT, food investigation over 3 days and dietary questionnaires, laboratory tests, calorimetry, polysomnography (Embletta), abdominal-pelvic MRI
Measured: 6 months
Endocrine Achievement
Endocrine study:
- Determine the primary endocrine deficiencies of those who are secondary to obesity and metabolic disorders.
OGTT, test LHRH
Measured: 6 months
Nephrologic achievement
Nephrology consultation including water deprivation test and renal ultrasound, to determine what is the primum movens at the renal impairment (glomerular or tubular origin), and if there is a particular component in fibrotic renal disease compared to other ciliopathies.
nephrology consultation, water deprivation test, renal ultrasound
Measured: 6 months
Cardiological achievement
Study of cardiovascular risk factors:
- Which patients have cardiac fibrosis? At what age and what connection with possible cardiomyopathy childhood? Cardiology consultation including echocardiogram, electrocardiogram (ECG), ambulatory blood pressure measurement, cardiac MRI, cardiac great vessels holter doppler
Measured: 6 months
Pneumologic achievement
Respiratory function study:
- Are respiratory alterations related to a breach of mobile eyelashes?
- Do ALMS patients develop respiratory fibrosis and in which context ? Spirometry, exhaled NO
Measured: 6 months
Reproductive biology
To explain infertility of ALMS patients (men or women)
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Sep 2016 (estimated)
- Study startApr 2014
- Primary completion5 Apr 2018
- Study completion5 Apr 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Alström Syndrome (ALMS)Studies 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 75 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Hélène DOLLFUS, MD, Principal investigator, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02890550
- Sponsor's protocol ID
- 5514
- Status last verified
- Jun 2019
- First submitted
- 19 Aug 2016
- Last updated
- 21 Jun 2019
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Jun 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Study of a Single Ciliopathy: Alström Syndrome
- ClinicalTrials.gov ID
- NCT02890550
- Acronym / sponsor ID
- 5514
- Conditions
- Alström Syndrome (ALMS)
- Keywords
- Ciliopathy, Retinitis pigmentosa, ALMS1 gene
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 75 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Apr 2014
- Primary completion
- 5 Apr 2018 (actual)
- Study completion
- 5 Apr 2018 (actual)
- First posted
- 7 Sep 2016 (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.
The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.
The investigators believe that the clinical consequences of mutations in the gene result ALMS1 unprecedented protests and the ALMS study should help to be informed, not only about the understanding and decision support other ciliopathies, but also about some common diseases, as some physiopathogenic roads could be common; the rare disease being exacerbated a model of the channel concerned. Secondarily, the clinical data generated by this project will also be used as part of basic research (eg comparison with results in animal models, use of human cells for in vitro studies or transcriptomic ....) (which will be a secondary upgrading to this work).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 30 Patients Alström syndrome | – | – |
| 60 Related patients Alström syndrome | – | – |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be recruited through the investigators' consultation Reference Center for Rare Diseases in Ophthalmological Genetics (CARGO) or sent by their colleagues from other cities including through very geneticists genetic Group or 3rd Thursdays ophthalmologists colleagues. Prior consultation CARGO will disclose the medical records of the intention of the patient to participate in this research (source document).
Key inclusion criteria (17 listed)
- Age> 2 years
- Affiliated with a social security scheme
- Informed consent signed
- Retinal dystrophy and proved at least three diagnostic criteria Alström syndrome (Criteria Marshall et al, 2005):
- Early obesity
Key exclusion criteria (6 listed)
- Current pregnancy (a pregnancy test is routinely performed at baseline)
- Pregnant or breastfeeding women
- Intercurrent diseases do not allow the practice exams in protocol
- Subject to exclusion period (determined by a previous study or a study in progress)
- Age less than 18 years
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genetic Diagnosis
Time frame: 6 months
In this project, 8 clinical research modules covering major medical issues goshawks ALMS (Genetic diagnosis, neurosensory infringement (ophthalmology and ENT (hearing and olfaction) and neuro-cognitive impairment), obesity \& diabetes, endocrine achievement, nephrologic achievement, cardiological achievement, pneumologic achievement, reproductive biology). For each module, the current state of knowledge, clinical issues and their impact on the management of short and medium term ALMS patients are detailed. The clinical complications of this disease must be identified rationally and treatment and clinical management optimized on robust foundations for enhanced medical knowledge. The development of targeted therapies will depend on the clinical research data is the basic foundation of work which can then be enriched by the scientific data currently booming in this area.
Neurosensory infringement
Time frame: 6 months
* Ophtalmology study: consultation with visual acuity evaluation, examination at the slit lamp, intraocular pressure measurement, fundus examination, evaluation of Goldmann visual field, rétinophotography, standard and multifocal electroretinography, color vision, Optical Coherence Tomography (OCT), orthoptic balance * proportion of initial macular involvement and impact on future therapeutic trials (eg retina / age thickness) * consequences of low vision on posterior optical channels (including occipital cortex) * Olfaction study: brushing the nasal mucosa, isotopic mucociliary clearance, olfactometry (test UPSIT) gustometry, audiogram, otoacoustic emissions, auditory evoked potentials * Is the origin of deafness endocochlear only? * OAS are they a predictive test and prognosis? * Are ALMS patients suffering anosmia as for other ciliopathies? * Mobile eyelashes respiratory mucosal abnormalities are they like other ciliopathies?
Neurocognitive impairment
Time frame: 6 months
Neurocognitive explorations: * Neuropsychological assessment with cognitive tests, psychiatric evaluation, MRI, to determine if ALMS patients have cognitive impairment. * Validation of a second population of a new innovative battery of neurocognitive tests for the visually impaired.
Obesity - Diabetes
Time frame: 6 months
Study of the origin of obesity: * Origin central or peripheral obesity? * Determinism of insulin resistance and diabetes? nutrition consultation, impedance, basal calorimetry and OGTT, food investigation over 3 days and dietary questionnaires, laboratory tests, calorimetry, polysomnography (Embletta), abdominal-pelvic MRI
Endocrine Achievement
Time frame: 6 months
Endocrine study: - Determine the primary endocrine deficiencies of those who are secondary to obesity and metabolic disorders. OGTT, test LHRH
Nephrologic achievement
Time frame: 6 months
Nephrology consultation including water deprivation test and renal ultrasound, to determine what is the primum movens at the renal impairment (glomerular or tubular origin), and if there is a particular component in fibrotic renal disease compared to other ciliopathies. nephrology consultation, water deprivation test, renal ultrasound
Cardiological achievement
Time frame: 6 months
Study of cardiovascular risk factors: - Which patients have cardiac fibrosis? At what age and what connection with possible cardiomyopathy childhood? Cardiology consultation including echocardiogram, electrocardiogram (ECG), ambulatory blood pressure measurement, cardiac MRI, cardiac great vessels holter doppler
Pneumologic achievement
Time frame: 6 months
Respiratory function study: * Are respiratory alterations related to a breach of mobile eyelashes? * Do ALMS patients develop respiratory fibrosis and in which context ? Spirometry, exhaled NO
Reproductive biology
Time frame: 6 months
To explain infertility of ALMS patients (men or women)
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jun 2019.
- Individual participant dataSharing planned: No
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
Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg
14 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alström Syndrome (ALMS), run by University Hospital, Strasbourg, France at 14 sites 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 17 inclusion and 6 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: stopped early, as of the sponsor's last update on 21 Jun 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites 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 was stopped early. Results are not available in the source record.
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?
Genetic Diagnosis (time frame: 6 months). The study lists 9 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 21 Jun 2019.