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Trial record 97 of 340 for:    CMT

Clinical Study of a Single Ciliopathy: Alström Syndrome

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ClinicalTrials.gov Identifier: NCT02890550
Recruitment Status : Terminated
First Posted : September 7, 2016
Last Update Posted : June 21, 2019
Sponsor:
Information provided by (Responsible Party):
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).


Condition or disease
Alström Syndrome (ALMS)

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Study Type : Observational
Actual Enrollment : 75 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Study of a Single Ciliopathy: Alström Syndrome
Study Start Date : April 2014
Actual Primary Completion Date : April 5, 2018
Actual Study Completion Date : April 5, 2018


Group/Cohort
30 Patients Alström syndrome
60 Related patients Alström syndrome



Primary Outcome Measures :
  1. 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.

  2. 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)
    • 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?

  3. Neurocognitive impairment [ Time Frame: 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.

  4. Obesity - Diabetes [ Time Frame: 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

  5. Endocrine Achievement [ Time Frame: 6 months ]

    Endocrine study:

    - Determine the primary endocrine deficiencies of those who are secondary to obesity and metabolic disorders.

    OGTT, test LHRH


  6. Nephrologic achievement [ Time Frame: 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


  7. Cardiological achievement [ Time Frame: 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


  8. Pneumologic achievement [ Time Frame: 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

  9. Reproductive biology [ Time Frame: 6 months ]
    To explain infertility of ALMS patients (men or women)


Biospecimen Retention:   Samples With DNA
Whole blood, serum, urine, tissue (skin biopsy, adipose tissue)


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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).
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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02890550


Locations
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France
CMCO, Hôpitaux Universitaires
Schiltigheim, France, 67300
Centre d'Investigation Clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, France, 67091
Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires
Strasbourg, France, 67091
Clinique Psychiatrique, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, France, 67091
Service de Cardiologie, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, France, 67091
Service de néphrologie et hémodialyse, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, France, 67091
Service de physiologie et des Explorations Fonctionnelles, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, France, 67091
Service de Psychothérapie pour Enfants et Adolescents, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, France, 67091
Service d'Imagerie 1, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, France, 67098
Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, France, 67098
Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, France, 67098
Service de Médecine Interne, Endocrinologie et Nutrition, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, France, 67098
Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, France, 67098
Service de Radiologie 2, Hôpital de Hautepierre, Hôpitaux Universitaires
Strasbourg, France, 67098
Sponsors and Collaborators
University Hospital, Strasbourg, France
Investigators
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Principal Investigator: Hélène DOLLFUS, MD Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg

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Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT02890550     History of Changes
Other Study ID Numbers: 5514
First Posted: September 7, 2016    Key Record Dates
Last Update Posted: June 21, 2019
Last Verified: June 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by University Hospital, Strasbourg, France:
Ciliopathy
Retinitis pigmentosa
ALMS1 gene
Additional relevant MeSH terms:
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Hereditary Sensory and Motor Neuropathy
Alstrom Syndrome
Ciliopathies
Syndrome
Disease
Pathologic Processes
Nervous System Malformations
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Polyneuropathies
Peripheral Nervous System Diseases
Neuromuscular Diseases
Retinitis Pigmentosa
Eye Diseases, Hereditary
Eye Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn