Leber Congenital Amaurosis
Conditions
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 .
Interventions
None listed
Sponsors
MeiraGTx UK II Ltd
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Analysis of retinal structure and function | 6 years | Retinal structure will be analysed using Adaptive optics and SD-OCT and Fundal autofluorescence. This will be correlated with assessment of visual acuity, psychophysical visual assessment, visual mobility, retinal sensitivity and visual fields |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Quality of Life Questionnaires | 6 years | Assessment of Visual impairment using appropriate, validated questionnaires |
| Retinal Sensitivity | 6 years | To be assessed in Microperimetry |
| Retinal Structural analysis | 6 years | Retinal Structure analysis with Adaptive Optics |
| Fundal Autofluorescence | 6 years | Presence or Absence |
| Assessment of Visual Fields | 6 years | Assessment of Visual Fields with analysis of hill of vision |
Countries
United Kingdom, United States
Outcome results
None listed