The goal of this study is to collect and clinically characterize a large cohort of patients with hereditary retinal dystrophies in the Netherlands. The study cohort will be used to identify the genetic causes underlying these diseases, and to…
ID
Source
Brief title
Condition
- Eye disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Extensive clinical characterizations of a large group of retinal dystrophy
patients. Identification of pathologic genetic variants in genes that are known
to, or likely to be involved in retinal dystrophies.
Secondary outcome
n.a.
Background summary
Retinal dystrophies (RD) represent a group of inherited ophthalmic diseases,
which are characterized by dysfunction of, or progressive loss of photoreceptor
cells, often accompanied by fundus abnormalities. It represents the most
important cause of juvenile blindness in the Western world for which no
treatment is currently available. Approximately 115 genes are known to be
mutated in these diseases. Together, these mutations cause ~50% of the
inherited retinal dystrophies. Knowledge about the genetic causes has improved
genetic counselling of the individual patient and enlarged our knowledge about
retinal function and dysfunction in retinal dystrophies. It has also led to the
first gene therapy trials in patients with RPE65 mutations recently. Now that
several types of therapy for retinal dystrophy are being developed, clinical
and genetic characterization of retinal dystrophy patients, and discovering new
genes associated with these diseases becomes more important.
Study objective
The goal of this study is to collect and clinically characterize a large cohort
of patients with hereditary retinal dystrophies in the Netherlands. The study
cohort will be used to identify the genetic causes underlying these diseases,
and to establish genotype-phenotype correlations. The final goal is to provide
a more reliable prognosis to patients, to provide better genetic counselling,
to discover new genes associated with retinal dystrophies, and to collect
larger groups of patients carrying a genetic defect in one of the retinal
dystrophy genes. The latter will be essential for the implementation of
therapeutic strategies in the near future.
Study design
Diagnostic cohort study.
Study burden and risks
It is important that children are entered into the study, since the
documentation of the first symptoms and signs of certain retinal disorders will
enhance our knowledge on the function and structure of their retina, which will
be needed to determine their eligibility for possible therapeutic strategies.
Participants do not benefit, risks are considered negligible, procedures are
non-invasive and take about 2 hours extra time from patient (and parent). It is
anticipated that, in the future, patients with retinal dystrophies will benefit
from newly developed therapeutic strategies.
Schiedamse Vest 180
Rotterdam 3011 BH
NL
Schiedamse Vest 180
Rotterdam 3011 BH
NL
Listed location countries
Age
Inclusion criteria
One of the following syndromic or non-syndromic retinal dystrophies:
- retinitis pigmentosa,
- Leber congenital amaurosis,
- cone-rod dystrophy,
- cone-dystrophy,
- achromatopsia,
- Stargardt disease,
- choroideremia,
- X-linked juvenile retinoschisis,
- Usher syndrome,
- Bardet Biedl syndrome,
- Best disease,
- retinal dystrophy closely linked to one of those mentioned above.
All modes of inheritance and ages may be considered.
Exclusion criteria
None.
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 | NL34152.078.10 |