Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.

Leber Congenital Amaurosis Clinical Trial

— GENPHENACL  

Official title:

Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02970266
• Other study ID #: P081257
• Status: Completed
• Phase: N/A
• First received: November 17, 2016
• Last updated: November 18, 2016
• Start date: September 2010
• Est. completion date: November 2016

Study information

• Verified date: November 2016
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Observational

Clinical Trial Summary

The main objectives of this study are:

1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families.

2. Confirm, refine or modify the genotype-phenotype correlations.

3. Edit important recommendations for:

• The clinical and paraclinical exploration of a new patient based on genotype, especially for extraocular explorations, to book at certain genetic subtypes

• Prenatal care of a couple.

• Directing families to a therapeutic protocol in progress or in development.

4. Individualize a panel of families without a mutation in the known genes and identify new genes responsible.

Description:

This study characterize the clinical history of the disease (age and start mode of visual disturbances, rate and mode of progress of disease), careful assessment of retina function and finally, in search of the mutations responsible for this condition.

A full ophthalmic check-up, one at the inclusion and 24 months :

1. - A genetic consultation taking account of family history and establishment of family tree with precision of geographical origin of birth of ascendants.

2. - A thorough ophthalmologic examination by a referring medical ophthalmologist, including:

2.1 - An interrogation on the development of the visual awakening since the birth and its possible disturbances.

2.2 - The search for abnormal movements of the eyeballs, and difficulties with regard to different lighting.

2.3 - Visual field evaluation Survey.

2.4 - The study of color vision.

2.5 - The search for a refractive disorder with the automatic refractometer.

2.6 - Measurement of Visual acuity for near and distance.

2.7 - Examination of the eyeball as a whole, examination of the anterior chamber of the eye by the slit lamp.

2.8 - Taking pictures of the fundus of the eye after pupillary dilation.

2.9 - An autofluorescence search using a Scanning Laser Ophthalmoscopy (SLO).

2.10 - Optical Coherence Tomography (OCT) which used to assess the thickness of each of retinal layers.

2.11 - Electrophysiological examination, Electroretinogram (ERG) that allows to record the functional value of the retina.

These two latter examinations last on average 10 minutes after dilation of the pupil.

3. - A blood sample of 10 milliliters to carry out genetic studies to identify the gene responsible for this condition and genetic counseling refined by taking account the results of this study.

Intermediate visit M12: only for patients younger than 6 years of age on inclusion.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 659
• Est. completion date: November 2016
• Est. primary completion date: September 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

Patients:

• Patients of all ages

• Patients with symptoms the day of the first consultation allowing to ask the diagnosis of leber congenital amaurosis.

• Are affiliated to a social health care.

• Written informed consent must be given by patients or holders parental authority for minors.

patients and siblings:

• Signed consent for molecular study by the participant or by holders parental authority for minors.

• Are affiliated to a social health care.

Exclusion Criteria:

• Patients whose exploration has laid differential diagnoses.

• Patients refusing the visits provided for in Protocol.

Study Design

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

• Blindness
• Leber Congenital Amaurosis

Locations

Country	Name	City	State
France	Necker-Enfants Malades Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.		24 MONTHS	No
Secondary	Measurement of visual acuity using the logarithmic scale for children under 5		24 MONTHS	No
Secondary	Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision		24 MONTHS	No
Secondary	The "Parinaud Scale" for near vision (After the age of 6)		24 MONTHS	No
Secondary	Visual field evaluation Survey		24 MONTHS	No
Secondary	Measurement of refraction by portable automatic refractometer.		24 MONTHS	No
Secondary	Screening for color vision abnormalities using "children's boards" of "Ishihara Test" from the age of 3-4.		24 MONTHS	No
Secondary	Screening for color vision abnormalities using "regular boards" as soon as learning to read figures from the age of five.		24 MONTHS	No
Secondary	Test the color vision deficiency using the " Farnsworth test" in adults and children after the age of 6.		24 MONTHS	No
Secondary	The visual field test using the Goldman dome in adults and children aged 6 to 7.		24 MONTHS	No
Secondary	Electrophysiological examination using Electroretinogram.		24 MONTHS	No