Clinical trial NCT02714816: Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
Official title: Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Leber Congenital Amaurosis
Lead sponsor: MeiraGTx UK II Ltd
Sponsor class: INDUSTRY
First posted: 2016-03-22
Enrollment: 37
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with RPE65-LCA condition

Brief summary: MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.

Detailed description: Leber Congenital Amaurosis (LCA) is a diagnosis for a group of severe, autosomal recessively inherited rod - cone dystrophies that typically result in complete visual loss in the third or fourth decade of life. One form, LCA2, is caused by a mutation in the gene encoding RPE56, an RPE-specific 65-kDa isomerase. Non-functional RPE65 results in photoreceptor cells that are unable to respond to light resulting in these patients being visually impaired.

In preparation for human clinical trials, a detailed prospective phenotypic study will be undertaken to investigate the natural history of RPE65-LCA. Such a study will help identify suitable patients for therapeutic intervention. Furthermore through greater phenotyping an optimal window for intervention and specific parameters to help quantify effect and identify clinical end points may have been ascertained .

Eligibility criteria: Inclusion Criteria:

* Patients with RPE65 associated retinal dystrophy
* Minimum subject age of 3 years
* Able to give consent/parent or guardian able to give consent

Exclusion Criteria:

* Patients unable or unwilling to undertake consent or clinical testing
* Have received a gene therapy treatment in both eyes

Primary outcomes:
measure: Analysis of retinal structure and function
timeFrame: 6 years
Secondary outcomes:
measure: Quality of Life Questionnaires
timeFrame: 6 years
measure: Retinal Sensitivity
timeFrame: 6 years
measure: Retinal Structural analysis
timeFrame: 6 years
measure: Fundal Autofluorescence
timeFrame: 6 years
measure: Assessment of Visual Fields
timeFrame: 6 years
Other outcomes:
Locations:
city: Ann Arbor
country: United States
facility: Kellogg Eye Center
state: Michigan
city: London
country: United Kingdom
facility: Moorfields Eye Hospital
Study officials:
affiliation: UCL/Moorfileds
name: Michel Michealides, Prof
role: PRINCIPAL_INVESTIGATOR
References:
citation: Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M. Retinal Structure in RPE65-Associated Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47.
citation: Kumaran N, Rubin GS, Kalitzeos A, Fujinami K, Bainbridge JWB, Weleber RG, Michaelides M. A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3330-3339. doi: 10.1167/iovs.18-23873.