Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65

NCT ID: NCT02714816

Last Updated: 2023-08-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

37 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-04-30

Study Completion Date

2023-07-22

Brief Summary

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

Detailed Description

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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 .

Conditions

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Leber Congenital Amaurosis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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MeiraGTx UK II Ltd

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Michel Michealides, Prof

Role: PRINCIPAL_INVESTIGATOR

UCL/Moorfileds

Locations

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Kellogg Eye Center

Ann Arbor, Michigan, United States

Site Status

Moorfields Eye Hospital

London, , United Kingdom

Site Status

Countries

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United States United Kingdom

References

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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.

Reference Type DERIVED
PMID: 32347917 (View on PubMed)

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.

Reference Type DERIVED
PMID: 30025081 (View on PubMed)

Other Identifiers

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MGT005

Identifier Type: -

Identifier Source: org_study_id

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