The purpose of this study is to collect and complement long-term clinical follow-up data from patients and families with choroideremia. We hope to increase our understanding of the clinical course of choroideremia.
ID
Source
Brief title
Condition
- Eye disorders congenital
- Congenital eye disorders (excl glaucoma)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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 outcome
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.
Background summary
Tapetoretinal dystrophy (TRD) is a clinical and genetic heterogeneous group of
hereditary retinal disorders. Choroideremia (tapetochoroideal dystrophy: TCD)
belongs to this group and is caused by degeneration of the choriocapillaris,
retinal pigment epithelium and photoreceptors within the eye. Due to collection
of data and careful clinical characterization of choroideremia families from
the *Delleman archive* of the Netherlands Institute for Neuroscience, in 1994
the CHM-gene was discovered. The CHM-gene encodes the Rab escort protein-1
(REP-1). To date, this is the only gene associated with choroideremia. Future
and current therapies, such as gene therapy, are designed to prevent or
restrain damage to the photoreceptors and therefore should be administered at
young age. At this time, gene therapy is the most promising treatment option
for incurable hereditary retinal disorders, such as Retinitis Pigmentosa (RP)
and Stargardt*s disease (STGD). With this study, we collect and complement
long-term clinical follow-up data for choroideremia. Gene therapy is in little
applied in Great-Britain. Therapeutic proof-of-principal for gene therapy in
mice was delivered and in the autumn of 2011 toxicity determination of gene
therapy in a small group of choroideremia patients.
Study objective
The purpose of this study is to collect and complement long-term clinical
follow-up data from patients and families with choroideremia. We hope to
increase our understanding of the clinical course of choroideremia.
Study design
Longitudinal observiational study.
Study burden and risks
Participants will be asked to undergo routine ophthalmological examination and
no invasive interventions will take place. Therefore, the strain and risk are
negligible. Participants will be asked to fill in a questionnaire and to visit
the hospital once.
Meibergdreef 9
Amsterdam 1105 AZ
NL
Meibergdreef 9
Amsterdam 1105 AZ
NL
Listed location countries
Age
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.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL44347.018.13 |