Leber Congenital AmaurosisGENPHENACLNCT02970266
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
An observational study of Leber Congenital Amaurosis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Leber Congenital Amaurosis
- How many people
- 659 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2010to Nov 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with Leber Congenital Amaurosis (LCA) taking into account Ethnicity of families.
Who may be able to join
- 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.
Who cannot join
- Patients whose exploration has laid differential diagnoses.
- Patients refusing the visits provided for in Protocol.
Trial locations and contacts
1 site in 1 country.
About this study
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
The main objectives of this study are:
- 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.
- Confirm, refine or modify the genotype-phenotype correlations.
- 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.
- 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.
- Conditions
- Leber Congenital Amaurosis
- Keywords
- Leber Congenital Amaurosis, Genetic Decryption, The genotype-phenotype correlations, Ethnicity families
- Medical subject headings
- Leber Congenital Amaurosis
What is being measured
The primary outcome is the main question the study is designed to answer.
Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
Measured: 24 MONTHS
Secondary outcomes (10)
Measurement of visual acuity using the logarithmic scale for children under 5
Measured: 24 MONTHS
Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision
Measured: 24 MONTHS
The "Parinaud Scale" for near vision (After the age of 6)
Measured: 24 MONTHS
Visual field evaluation Survey
Measured: 24 MONTHS
Measurement of refraction by portable automatic refractometer.
Measured: 24 MONTHS
Screening for color vision abnormalities using "children's boards" of "Ishihara Test" from the age of 3-4.
Measured: 24 MONTHS
Screening for color vision abnormalities using "regular boards" as soon as learning to read figures from the age of five.
Measured: 24 MONTHS
Test the color vision deficiency using the " Farnsworth test" in adults and children after the age of 6.
Measured: 24 MONTHS
The visual field test using the Goldman dome in adults and children aged 6 to 7.
Measured: 24 MONTHS
Electrophysiological examination using Electroretinogram.
Measured: 24 MONTHS
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Nov 2016 (estimated)
- Study startSep 2010
- Primary completionSep 2015
- Study completionNov 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Leber Congenital AmaurosisStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 659 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Josseline KAPLAN, MD, Principal investigator, Necker-Enfants Malades Hospital, 75015 Paris. France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02970266
- Sponsor's protocol ID
- P081257
- Acronym
- GENPHENACL
- Status last verified
- Nov 2016
- First submitted
- 17 Nov 2016
- Last updated
- 21 Nov 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Nov 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT02970266
- Acronym / sponsor ID
- GENPHENACL / P081257
- Conditions
- Leber Congenital Amaurosis
- Keywords
- Leber Congenital Amaurosis, Genetic Decryption, The genotype-phenotype correlations, Ethnicity families
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 659 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Sep 2010
- Primary completion
- Sep 2015 (actual)
- Study completion
- Nov 2016 (actual)
- First posted
- 21 Nov 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The main objectives of this study are:
- 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.
- Confirm, refine or modify the genotype-phenotype correlations.
- 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.
- Individualize a panel of families without a mutation in the known genes and identify new genes responsible.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Leber Congenital Amaurosis (LCA) taking into account Ethnicity of families.
Key inclusion criteria (8 listed)
- 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.
- Signed consent for molecular study by the participant or by holders parental authority for minors.
Key exclusion criteria (2 listed)
- Patients whose exploration has laid differential diagnoses.
- Patients refusing the visits provided for in Protocol.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
Time frame: 24 MONTHS
10 secondary outcomes
Measurement of visual acuity using the logarithmic scale for children under 5
Time frame: 24 MONTHS
Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision
Time frame: 24 MONTHS
The "Parinaud Scale" for near vision (After the age of 6)
Time frame: 24 MONTHS
Visual field evaluation Survey
Time frame: 24 MONTHS
Measurement of refraction by portable automatic refractometer.
Time frame: 24 MONTHS
Screening for color vision abnormalities using "children's boards" of "Ishihara Test" from the age of 3-4.
Time frame: 24 MONTHS
Screening for color vision abnormalities using "regular boards" as soon as learning to read figures from the age of five.
Time frame: 24 MONTHS
Test the color vision deficiency using the " Farnsworth test" in adults and children after the age of 6.
Time frame: 24 MONTHS
The visual field test using the Goldman dome in adults and children aged 6 to 7.
Time frame: 24 MONTHS
Electrophysiological examination using Electroretinogram.
Time frame: 24 MONTHS
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Nov 2016.
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Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Josseline KAPLAN, MD principal investigator
Necker-Enfants Malades Hospital, 75015 Paris. France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leber Congenital Amaurosis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 21 Nov 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA. (time frame: 24 MONTHS). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Nov 2016.