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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON38958

Enrollment

Registered

2013-05-28

Start date

2013-07-17

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

CHM Choroideremia tapetochoroideal dystrophy (TCD)

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: There are no exclusion criteria.

Design outcomes

Primary

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

Measure

Time frame

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

—

Secondary

Measure	Time frame
Secundairy study parameters are the course of the complaints and subjective limitations in the activities of daily living. These parameters will be tested by a questionnaire, which contains subjective nyctalopia, color vision disorders, photofobia and subjective limitations of the visual field.	—

Countries

Netherlands

Outcome results