Clinical Trial: Clinical Study of a Single Ciliopathy: Alström Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Clinical Study of a Single Ciliopathy: Alström Syndrome

Brief 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 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).


Detailed Summary:
Sponsor: University Hospital, Strasbourg, France

Current 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)

    • Original Primary Outcome: Same as current

      Current Secondary Outcome:

      Original Secondary Outcome:

      Information By: University Hospital, Strasbourg, France

      Dates:
      Date Received: August 19, 2016
      Date Started: April 2014
      Date Completion: September 2017
      Last Updated: August 31, 2016
      Last Verified: August 2016