Clinical Study of a Single Ciliopathy: Alström Syndrome

Terminated

• Conditions: Alström Syndrome (ALMS)

• Registration Number: NCT02890550
• Lead Sponsor: University Hospital, Strasbourg, France

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 Description

Not available

Study Timeline

• Study Start: 2014-04
• Study First Submitted: 2016-08-19
• Study First Submitted QC: 2016-08-31
• Study First Posted: 2016-09-07
• Primary Completion: 2018-04-05
• Study Completion: 2018-04-05
• Status Verified: 2019-06
• Last Update Submitted: 2019-06-20
• Last Update Posted: 2019-06-21

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 75

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic Diagnosis	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	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	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	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
Pneumologic achievement	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
Nephrologic achievement	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
Endocrine Achievement	6 months	Endocrine study: - Determine the primary endocrine deficiencies of those who are secondary to obesity and metabolic disorders.; OGTT, test LHRH
Cardiological achievement	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
Reproductive biology	6 months	To explain infertility of ALMS patients (men or women)

Trial Locations

Locations (14)

CMCO, Hôpitaux Universitaires; 🇫🇷 Schiltigheim, France

Centre d'Investigation Clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Clinique Psychiatrique, Hôpital Civil, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Service de Cardiologie, Nouvel Hôpital Civil, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Service de néphrologie et hémodialyse, Hôpital Civil, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Service de physiologie et des Explorations Fonctionnelles, Nouvel Hôpital Civil, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Service de Psychothérapie pour Enfants et Adolescents, Hôpital Civil, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Service d'Imagerie 1, Hôpital de Hautepierre, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital de Hautepierre, Hôpitaux Universitaires; 🇫🇷 Strasbourg, France

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