ong-term clinical follow-up study of patients and families with choroideremia for future clinical trials

Completed

• Conditions: CHM; Choroideremia; tapetochoroideal dystrophy (TCD); 10015920; 10010463

• Registration Number: NL-OMON38958
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 50

Inclusion Criteria

Patients who are diagnosed with choroideremia based on ophthalmologic examination by an ophthalmologist and (often) confirmed by DNA-analysis. Patients were included if they are male gender, aged *18 years of age and able to provide written informed consent.

Exclusion Criteria

There are no exclusion criteria.

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To study the correlation between the genotype and the phenotype (clinical<br /><br>symptoms) of choroideremia patients. The clinical symptoms of each patient were<br /><br>investigated during regular examination at the department of ophthalmology of<br /><br>the Academic Medical Centre Amsterdam. The clinical course of the disorder will<br /><br>be investigated on the basis of visual acuity, fundoscopy, fundus photography,<br /><br>fundus autofluorescence, spectral-domain optical coherence tomography (SD-OCT)<br /><br>and visual field tests from the past and the present.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secundairy study parameters are the course of the complaints and subjective<br /><br>limitations in the activities of daily living. These parameters will be tested<br /><br>by a questionnaire, which contains subjective nyctalopia, color vision<br /><br>disorders, photofobia and subjective limitations of the visual field. </p><br>