Status:
COMPLETED
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Lead Sponsor:
University of Campania Luigi Vanvitelli
Collaborating Sponsors:
Retina Italia Onlus
Conditions:
Leber Congenital Amaurosis 2
Retinitis Pigmentosa 20
Eligibility:
All Genders
3+ years
Brief Summary
Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 ...
Eligibility Criteria
Inclusion
- Must be willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent.
- Subjects diagnosed with Retinitis Pigmentosa or Leber Congenital Amaurosis.
- Molecular diagnosis showing mutations (homozygotes or compound heterozygotes) in RPE65 gene.
- Age three years old or older.
- Minimum of two office / clinic visits encounters with ophthalmic assessment that span a follow-up period of at least 1 year with the last visit occurring within the last six months (before signature of informed consent and of study start).
Exclusion
- Unable or unwilling to meet requirements of the study.
- Participation in a clinical study with an investigational drug during the retrospective study time period (i.e., from 01/01/1990 to study start date).
Key Trial Info
Start Date :
May 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 31 2020
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT04525261
Start Date
May 1 2020
End Date
July 31 2020
Last Update
November 29 2023
Active Locations (9)
Enter a location and click search to find clinical trials sorted by distance.
1
Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero
Camposampiero, Italy
2
UOC Oculistica - AOU Careggi
Florence, Italy
3
UOC Oculistica - Ospedale Sacco
Milan, Italy
4
UOC Oculistica - Ospedale San Paolo
Milan, Italy