Long-term follow-up gene therapy study for Achromatopsia (CNGB3)

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) for gene therapy of adults and children with achromatopsia owing to defects in CNGB3

Status

Not yet recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2016-003856-59-GB

Enrollment

Registered

2017-02-28

Start date

2017-04-12

Completion date

Unknown

Last updated

2019-06-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Achromatopsia caused by mutations in the CNGB3 gene MedDRA version: 19.1 Level: LLT Classification code 10000454 Term: Achromatopsia System Organ Class: 100000004850

Interventions

Product Name: AAV2/8-hCARp.hCNGB3 Pharmaceutical Form: Solution for injection INN or Proposed INN: rAAV2/8-hCARp.hCNGB3 Current Sponsor code: rAAV2/8-hC

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: - Are able to give informed consent or assent, with or without the guidance of their parent/guardian where appropriate - Were enrolled and treated in the prior open-label, Phase I/II, dose escalation study involving intraocular administration of AAV2/8-hCARp.hCNGB3 - Are willing to adhere to the protocol and long-term follow-up Are the trial subjects under 18? yes Number of subjects for this age range: 9 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 18 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: Individuals will be excluded if they are unwilling or unable to meet with the requirements of the study.

Design outcomes

Primary

Measure	Time frame
Primary end point(s): The primary study outcome is the long-term safety of the subretinal administration of the ATIMP.;Timepoint(s) of evaluation of this end point: At 9, 12, 18, 24, 36, 48 and 60 months after AAV2/8-hCARp.hCNGB3 administration;Secondary Objective: The secondary research objective is to explore the longer term efficacy of AAV2/8-hCARp.hCNGB3 in improving visual and retinal function, and quality of life.;Main Objective: The primary research objective is to assess the longer term safety of AAV2/8-hCARp.hCNGB3 for CNGB3 gene replacement in the retina administered to participants in the CNGB3 trial, measured by the presence or absence of adverse events, the assessment of visual acuity, and loss of light perception.	—

Measure

Time frame

Primary end point(s): The primary study outcome is the long-term safety of the subretinal administration of the ATIMP.;Timepoint(s) of evaluation of this end point: At 9, 12, 18, 24, 36, 48 and 60 months after AAV2/8-hCARp.hCNGB3 administration;Secondary Objective: The secondary research objective is to explore the longer term efficacy of AAV2/8-hCARp.hCNGB3 in improving visual and retinal function, and quality of life.;Main Objective: The primary research objective is to assess the longer term safety of AAV2/8-hCARp.hCNGB3 for CNGB3 gene replacement in the retina administered to participants in the CNGB3 trial, measured by the presence or absence of adverse events, the assessment of visual acuity, and loss of light perception.

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Secondary

Measure	Time frame
Timepoint(s) of evaluation of this end point: At 9, 12, 18, 24, 36, 48 and 60 months after AAV2/8-hCARp.hCNGB3 administration; Secondary end point(s): The secondary outcomes are measures of the efficacy of the ATIMP; these will be performed on an individual participant basis and will be descriptive in nature: 1) Any improvements in visual function from baseline that are greater than the test-retest variation and are sustained for at least two consecutive assessments. 2) Any improvement in retinal function from baseline that is greater than test-retest variation and measurable by electrophysiology (pattern ERG, multifocal ERG or full-field ERG). 3) Quality of life will be measured by the Impact of Visual Impairment (IVI) questionnaire and the EQ5D-5L.	—

Measure

Time frame

Timepoint(s) of evaluation of this end point: At 9, 12, 18, 24, 36, 48 and 60 months after AAV2/8-hCARp.hCNGB3 administration; Secondary end point(s): The secondary outcomes are measures of the efficacy of the ATIMP; these will be performed on an individual participant basis and will be descriptive in nature: 1) Any improvements in visual function from baseline that are greater than the test-retest variation and are sustained for at least two consecutive assessments. 2) Any improvement in retinal function from baseline that is greater than test-retest variation and measurable by electrophysiology (pattern ERG, multifocal ERG or full-field ERG). 3) Quality of life will be measured by the Impact of Visual Impairment (IVI) questionnaire and the EQ5D-5L.

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Countries

United Kingdom, United States

Contacts

Public ContactAnna Morka

MeiraGTx UK II Ltd

ocularinfo@meiragtx.com

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026