Clinical Study of a Single Ciliopathy: Alström Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

75 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-04-30

Study Completion Date

2018-04-05

Brief Summary

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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).

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Detailed Description

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Conditions

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Alström Syndrome (ALMS)

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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30 Patients Alström syndrome

No interventions assigned to this group

60 Related patients Alström syndrome

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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
* 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

Exclusion Criteria

* 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)

Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes