Identification and Verification of Candidate Genes Responsible for Optic Disc Drusen Development
NCT05736237 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20
Last updated 2024-08-02
Summary
The goal of this observational study is to learn about the genetic background for the development of optic disc drusen. The main question is:
• Can one or more candidate genes be found?
Participants will have a blood sample taken and answer a questionnaire.
Conditions
- Optic Disk Drusen
Interventions
- GENETIC
-
Whole exome sequencing
With Next Generation Sequenzing
Sponsors & Collaborators
-
Copenhagen University Hospital at Herlev
lead OTHER
Eligibility
- Min Age
- 18 Years
- Max Age
- 100 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-05-01
- Primary Completion
- 2024-05-31
- Completion
- 2024-05-31
Countries
- Denmark
Study Locations
More Related Trials
-
Genetic Origin of Lipid Disorders
NCT00277121 ·Status: UNKNOWN
-
Clinical and Molecular Studies in Families With Inherited Eye Disease
NCT02771236 ·Status: RECRUITING
-
Genetic Examination of Patients With Primary Multiple Hernia
NCT00979095 ·Status: UNKNOWN
-
Exploring the Genetics of Neuropathic Pain
NCT03862365 ·Status: RECRUITING
-
MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
NCT05102799 ·Status: RECRUITING
-
Decoding the Genetic Landscape of Skeletal Diseases
NCT05876416 ·Status: RECRUITING
-
Identification of Genomic Loci Determining Susceptibility to the Development of High Myopia
NCT02583620 ·Status: COMPLETED ·Phase: NA
-
Identifying New Genetic Causes to Development Disorders
NCT03283852 ·Status: RECRUITING
-
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
NCT01962129 ·Status: UNKNOWN
-
Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)
NCT00111384 ·Status: COMPLETED
-
Study on Susceptibility Genes of Anterior Cruciate Ligament, Patella Dislocation and Discoid Meniscus
NCT04997538 ·Status: RECRUITING
-
Epigenetic Regulation in Fibrous Dysplasia of Bone: mirDYS Study.
NCT03838991 ·Status: COMPLETED ·Phase: NA
-
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05793515 ·Status: COMPLETED
-
Genetics of Inherited Eye Disease
NCT02471287 ·Status: RECRUITING
-
Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy
NCT00457912 ·Status: COMPLETED
-
MRI and Muscle Involvement in Patients With Mutations in GMPPB
NCT02635321 ·Status: COMPLETED
-
Genetic Polymorphisms Associated With Vertebral Osteochondrosis
NCT04195529 ·Status: UNKNOWN
-
Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.
NCT01950975 ·Status: COMPLETED ·Phase: NA
-
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
NCT06776341 ·Status: RECRUITING
-
Genetic Disease Gene Identification
NCT00916903 ·Status: TERMINATED
-
Genetic Analysis to Predict the Development of Paget's Disease
NCT05309954 ·Status: ACTIVE_NOT_RECRUITING
-
Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features
NCT06950619 ·Status: NOT_YET_RECRUITING ·Phase: NA
-
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
NCT00950118 ·Status: RECRUITING
-
Observational Study of Advanced Data Analytics in Genetic Conditions
NCT05657405 ·Status: RECRUITING
-
Genetic Analysis of Craniofrontonasal Syndrome
NCT00339846 ·Status: COMPLETED