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CompletedNCT02970266GENPHENACLUpdated Nov 21, 2016

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

An observational study in Leber Congenital Amaurosis, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Per ClinicalTrials.gov, last updated 2016-11-21.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Cohort
Time perspective
Retrospective
Enrollment
659
Sex
All
01

Study 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.
Read the detailed 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 :

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

    • 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.

    • 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.

02

Conditions studied

  • Leber Congenital Amaurosis

Keywords

  • Leber Congenital Amaurosis
  • Genetic Decryption
  • The genotype-phenotype correlations
  • Ethnicity families
03

In context

Blindness

161 studies on the registry are indexed under Blindness; 33 are open to participants now.

This study's enrollment of 659 is above the median of 64 across 45 observational studies indexed under Blindness.

Browse Blindness studies →

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Patients with Leber Congenital Amaurosis (LCA) taking into account Ethnicity of families.

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

Exclusion Criteria:

  • Patients whose exploration has laid differential diagnoses.
  • Patients refusing the visits provided for in Protocol.
05

Study design

Observational model
Cohort
Time perspective
Retrospective
Enrollment
659 participants (actual)
Patient registry
No
06

What researchers measure

Primary outcomes

  1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.

    Time frame: 24 MONTHS

Secondary outcomes

  1. Measurement of visual acuity using the logarithmic scale for children under 5

    Time frame: 24 MONTHS

  2. Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision

    Time frame: 24 MONTHS

  3. The "Parinaud Scale" for near vision (After the age of 6)

    Time frame: 24 MONTHS

  4. Visual field evaluation Survey

    Time frame: 24 MONTHS

  5. Measurement of refraction by portable automatic refractometer.

    Time frame: 24 MONTHS

  6. Screening for color vision abnormalities using "children's boards" of "Ishihara Test" from the age of 3-4.

    Time frame: 24 MONTHS

  7. Screening for color vision abnormalities using "regular boards" as soon as learning to read figures from the age of five.

    Time frame: 24 MONTHS

  8. Test the color vision deficiency using the " Farnsworth test" in adults and children after the age of 6.

    Time frame: 24 MONTHS

  9. The visual field test using the Goldman dome in adults and children aged 6 to 7.

    Time frame: 24 MONTHS

  10. Electrophysiological examination using Electroretinogram.

    Time frame: 24 MONTHS

07

Study locations

1 site
  • Necker-Enfants Malades Hospital
    Paris, 75015, France
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Nov 21, 2016, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT02970266
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Responsible party
Sponsor
First posted
Nov 21, 2016
Start date
Sep 2010
Primary completion
Sep 2015
Completion
Nov 2016
Last update
Nov 21, 2016

Study contacts

Josseline KAPLAN, MD
principal investigator · Necker-Enfants Malades Hospital, 75015 Paris. France

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Nov 2016. You cannot join it, but the record below documents what was studied.

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