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Clinical trial

Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism

ID
Name
CHUBX 2019/52
Description
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Trial arms
Trial start
2020-11-23
Estimated PCD
2024-06-01
Trial end
2024-06-01
Status
Recruiting
Treatment
Blood samples
Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
Arms:
Patient with a diagnosis of incomplete form of albinism
Size
100
Primary endpoint
Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes
Enrollment
Eligibility criteria
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.
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'CASE_ONLY', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'whole blood sample'}, 'enrollmentInfo': {'count': 100, 'type': 'ESTIMATED'}}
Updated at
2023-06-15

1 organization

1 product

2 indications

Organization
University Hospital Bordeaux
Product
Blood samples
Indication
Albinism
Indication
Ocular