Clinical Study of a Single Ciliopathy: Alström Syndrome

Genetic Diagnosis

时间窗: 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

时间窗: 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

时间窗: 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

时间窗: 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

时间窗: 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

时间窗: 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

时间窗: 6 months

Endocrine study: - Determine the primary endocrine deficiencies of those who are secondary to obesity and metabolic disorders. OGTT, test LHRH

Cardiological achievement

时间窗: 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

时间窗: 6 months

To explain infertility of ALMS patients (men or women)