Clinical trial NCT02890550: Clinical Study of a Single Ciliopathy: Alström Syndrome
Official title: Clinical Study of a Single Ciliopathy: Alström Syndrome
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Alström Syndrome (ALMS)
Keywords: Ciliopathy
Retinitis pigmentosa
ALMS1 gene
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2016-09-07
Enrollment: 75
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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).

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).


Eligibility criteria: Inclusion Criteria for Patients with Alström syndrome:

* 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

Inclusion Criteria for Related of Alström patients :

* Father / Mother of a patient diagnosed with Alström
* Age greater than 18 years
* Affiliated with a social security scheme
* Informed consent signed

Exclusion Criteria for Patients with Alström syndrome:

* 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)

Exclusion Criteria for Related of Alström patients :

* Age less than 18 years
* Subject to exclusion period (determined by a previous study or a study in progress)

Primary outcomes:
measure: Genetic Diagnosis
timeFrame: 6 months
measure: Neurosensory infringement
timeFrame: 6 months
measure: Neurocognitive impairment
timeFrame: 6 months
measure: Obesity - Diabetes
timeFrame: 6 months
measure: Endocrine Achievement
timeFrame: 6 months
measure: Nephrologic achievement
timeFrame: 6 months
measure: Cardiological achievement
timeFrame: 6 months
measure: Pneumologic achievement
timeFrame: 6 months
measure: Reproductive biology
timeFrame: 6 months
Secondary outcomes:
Other outcomes:
Locations:
city: Schiltigheim
country: France
facility: CMCO, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Centre d'Investigation Clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Clinique Psychiatrique, Hôpital Civil, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de Cardiologie, Nouvel Hôpital Civil, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de néphrologie et hémodialyse, Hôpital Civil, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de physiologie et des Explorations Fonctionnelles, Nouvel Hôpital Civil, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de Psychothérapie pour Enfants et Adolescents, Hôpital Civil, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service d'Imagerie 1, Hôpital de Hautepierre, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital de Hautepierre, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de Médecine Interne, Endocrinologie et Nutrition, Hôpital de Hautepierre, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires
city: Strasbourg
country: France
facility: Service de Radiologie 2, Hôpital de Hautepierre, Hôpitaux Universitaires
Study officials:
affiliation: Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg
name: Hélène DOLLFUS, MD
role: PRINCIPAL_INVESTIGATOR
References: