Clinical trial NCT03278873: Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3
Official title: Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3 and AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 or CNGA3
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Achromatopsia
Keywords: Achromatopsia
CNGA3
CNGB3
Lead sponsor: MeiraGTx UK II Ltd
Sponsor class: INDUSTRY
First posted: 2017-09-12
Enrollment: 34
Sex: ALL
Minimum age (years): 3
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population are adults and children with achromatopsia resulting from mutations in CNGA3 or CNGB3.

Brief summary: This is a longer-term follow-up study of patients with achromatopsia associated with defects in CNGA3 who participated in a clinical trial in which they received AAV-CNGA3 retinal gene therapy, or of patients with achromatopsia associated with defects in CNGB3 who participated in a clinical trial in which they received AAV-CNGB3 retinal gene therapy.

Detailed description: The follow-up study is designed to collect data on the longer-term safety and efficacy of AAV-CNGA3 retinal gene therapy and AAV-CNGB3 retinal gene therapy.

Eligibility criteria: Inclusion in the study will be limited to individuals who:

1. Are able to give informed consent or assent, with or without the guidance of their parent(s)/guardian(s), where appropriate
2. Received AAV2/8-hCARp.hCNGB3 or AAV2/8-hG1.7p.coCNGA3 by intraocular administration in the prior open-label, Phase I/II, dose escalation study (EudraCT 2016-002290-35 or EudraCT 2018-003431-29)
3. Are willing to adhere to the protocol and long-term follow-up

Individuals will be excluded who:

Are unwilling or unable to meet the requirements of the study

Primary outcomes:
measure: Incidence of Adverse Events Related to the Treatment
timeFrame: 5 Years
Secondary outcomes:
measure: Improvements in Visual Function as Assessed by Visual Acuity at Month 12
timeFrame: 12 months
measure: Improvements in Visual Function as Assessed by Visual Acuity at Month 60
timeFrame: 60 months
measure: Improvements in Retinal Function as Assessed by Static Perimetry at Month 12
timeFrame: 12 months
measure: Improvements in Retinal Function as Assessed by Static Perimetry at Month 60
timeFrame: 60 months
measure: Quality of Life at Month 12 Measured by QoL Questionnaires in Children and Adolescents
timeFrame: 12 months
measure: Quality of Life at Month 60 Measured by QoL Questionnaires in Children and Adolescents
timeFrame: 60 months
measure: Quality of Life at Month 12 Measured by QoL Questionnaires in Adults
timeFrame: 12 months
measure: Quality of Life at Month 60 Measured by QoL Questionnaires in Adults
timeFrame: 60 months
Other outcomes:
Locations:
city: Ann Arbor
country: United States
facility: Kellogg Eye Center
state: Michigan
city: London
country: United Kingdom
facility: Moorfields Eye Hospital NHS Foundation Trust
Study officials:
References: