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Clinical Study of a Single Ciliopathy: Alström Syndrome

NCT02890550 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 75

Last updated 2019-06-21

No results posted yet for this study

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).

Conditions

  • Alström Syndrome (ALMS)

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Hélène DOLLFUS, MD · Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-04-30
Primary Completion
2018-04-05
Completion
2018-04-05

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02890550 on ClinicalTrials.gov