Leber Congenital Amaurosis Clinical Trial
Official title:
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy
The main objectives of this study are:
1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes
within a expanded population of patients with LCA taking into account ethnicity of
families.
2. Confirm, refine or modify the genotype-phenotype correlations.
3. Edit important recommendations for:
- The clinical and paraclinical exploration of a new patient based on genotype,
especially for extraocular explorations, to book at certain genetic subtypes
- Prenatal care of a couple.
- Directing families to a therapeutic protocol in progress or in development.
4. Individualize a panel of families without a mutation in the known genes and identify
new genes responsible.
This study characterize the clinical history of the disease (age and start mode of visual
disturbances, rate and mode of progress of disease), careful assessment of retina function
and finally, in search of the mutations responsible for this condition.
A full ophthalmic check-up, one at the inclusion and 24 months :
1. - A genetic consultation taking account of family history and establishment of family
tree with precision of geographical origin of birth of ascendants.
2. - A thorough ophthalmologic examination by a referring medical ophthalmologist,
including:
2.1 - An interrogation on the development of the visual awakening since the birth and
its possible disturbances.
2.2 - The search for abnormal movements of the eyeballs, and difficulties with regard
to different lighting.
2.3 - Visual field evaluation Survey.
2.4 - The study of color vision.
2.5 - The search for a refractive disorder with the automatic refractometer.
2.6 - Measurement of Visual acuity for near and distance.
2.7 - Examination of the eyeball as a whole, examination of the anterior chamber of the
eye by the slit lamp.
2.8 - Taking pictures of the fundus of the eye after pupillary dilation.
2.9 - An autofluorescence search using a Scanning Laser Ophthalmoscopy (SLO).
2.10 - Optical Coherence Tomography (OCT) which used to assess the thickness of each of
retinal layers.
2.11 - Electrophysiological examination, Electroretinogram (ERG) that allows to record
the functional value of the retina.
These two latter examinations last on average 10 minutes after dilation of the pupil.
3. - A blood sample of 10 milliliters to carry out genetic studies to identify the gene
responsible for this condition and genetic counseling refined by taking account the
results of this study.
Intermediate visit M12: only for patients younger than 6 years of age on inclusion.
;
Observational Model: Cohort, Time Perspective: Retrospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01496040 -
Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
|
Phase 1/Phase 2 | |
| Completed |
NCT00516477 -
Safety Study in Subjects With Leber Congenital Amaurosis
|
Phase 1 | |
| Active, not recruiting |
NCT03920007 -
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
|
Phase 1/Phase 2 | |
| Recruiting |
NCT05906953 -
Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
|
Phase 1/Phase 2 | |
| Active, not recruiting |
NCT00999609 -
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
|
Phase 3 | |
| Active, not recruiting |
NCT01208389 -
Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
|
Phase 1/Phase 2 | |
| Terminated |
NCT03913130 -
Extension Study to Study PQ-110-001 (NCT03140969)
|
Phase 1/Phase 2 | |
| Recruiting |
NCT04855045 -
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
|
Phase 2/Phase 3 | |
| Recruiting |
NCT02435940 -
Inherited Retinal Degenerative Disease Registry
|
||
| Completed |
NCT00749957 -
Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis
|
Phase 1/Phase 2 | |
| Recruiting |
NCT01793168 -
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
|
||
| Not yet recruiting |
NCT04731883 -
RPE65 Gene Therapy （LX101）for Leber's Congenital Amaurosis
|
N/A | |
| Recruiting |
NCT05203939 -
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
|
Phase 1/Phase 2 | |
| Recruiting |
NCT06088992 -
Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
|
Early Phase 1 | |
| Recruiting |
NCT06064565 -
Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial (LIGHT)
|
Early Phase 1 | |
| Completed |
NCT00821340 -
Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
|
Phase 1 | |
| Active, not recruiting |
NCT03913143 -
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
|
Phase 2/Phase 3 | |
| Completed |
NCT02714816 -
Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
|
||
| Completed |
NCT02781480 -
Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)
|
Phase 1/Phase 2 |