NGS Panel of Incomplete Forms of Ocular Albinism

NCT04495218 | Completed

• 1 other identifier: CHUBX 2019/52
• Study Type: observational
• Target: 53
• Locations: 1 country
• Sites: 1

Brief Summary

Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.

Conditions

Albinism, Ocular

Keywords

Next generation sequencing; Albinism

Outcome Measures

Primary Outcomes (1)

• Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes

  the prevalence of finding at least two pathogenic variants is 10%.

  Enrollment

Study Arms (1)

Patient with a diagnosis of incomplete form of albinism

Biological: Blood samples

Interventions

Blood samples BIOLOGICAL

Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.

Patient with a diagnosis of incomplete form of albinism

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• Refusal to participate in research protocol.

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (1)

Centre Hospitalier Universitaire de Bordeaux

Bordeaux, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood sample

MeSH Terms

Conditions

Albinism, Ocular; Albinism

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 20, 2020
• First Posted: July 31, 2020
• Study Start: November 23, 2020
• Primary Completion: February 28, 2024
• Study Completion: February 28, 2024
• Last Updated: September 19, 2024

Record last verified: 2024-09

Locations

FR (1)