- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04495218
NGS Panel of Incomplete Forms of Ocular Albinism (DIA)
June 14, 2023 updated by: University Hospital, Bordeaux
Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Study Overview
Detailed Description
Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features.
These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation, translucent irides and nystagmus.
The molecular genetic lab at Bordeaux University Hospital is the national reference for the study of this disease.
More than 1400 patients have been analyzed with a strategy including next-generation sequencing of the 19 known genes of albinism and array-CGH.
Despite this thorough analysis, 25% of patients remain without molecular diagnosis.
Our experience tells us that these patients often show an incomplete form of albinism with the presence of only few ophthalmologic signs.
The molecular diagnosis is very challenging as the phenotype often overlaps with other ophthalmologic disorders.
Study Type
Observational
Enrollment (Estimated)
100
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Vincent Michaud, Dr
- Phone Number: 0557820353
- Email: vincent.michaud@chu-bordeaux.fr
Study Locations
-
-
-
Bordeaux, France
- Recruiting
- Centre Hospitalier Universitaire de Bordeaux
-
Contact:
- Vincent Michaud, Dr
- Phone Number: 0557820353
- Email: vincent.michaud@chu-bordeaux.fr
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 second and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
Patient with a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm and having a specialized consultation in CHU de Bordeaux
Description
Inclusion Criteria:
- Minor and adult patient.
- Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.
- Registered for the social security system.
- Informed consent signed by patient or parent of a minor patient.
Exclusion Criteria:
- Refusal to participate in research protocol.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Patient with a diagnosis of incomplete form of albinism
|
Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes
Time Frame: Enrollment
|
the prevalence of finding at least two pathogenic variants is 10%.
|
Enrollment
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
November 23, 2020
Primary Completion (Estimated)
June 1, 2024
Study Completion (Estimated)
June 1, 2024
Study Registration Dates
First Submitted
July 20, 2020
First Submitted That Met QC Criteria
July 28, 2020
First Posted (Actual)
July 31, 2020
Study Record Updates
Last Update Posted (Actual)
June 15, 2023
Last Update Submitted That Met QC Criteria
June 14, 2023
Last Verified
June 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- CHUBX 2019/52
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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