A long-term follow-up study to evaluate the safety and efficacy of retinal gene therapy in subjects with Choroideremia previously treated with AAV2-REP1 and in subjects with X-Linked Retinitis Pigmentosa previously treated with AAV8-RPGR in an antecedent study

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study

Status

Active, not recruiting

Phases

Phase 3

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2017-003104-42-DE

Enrollment

330

Registered

2017-09-25

Start date

2018-01-05

Completion date

Unknown

Last updated

2024-10-14

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

Conditions

Choroideremia (CHM) X-Linked Retinitis Pigmentosa (XLRP) MedDRA version: 20.1 Level: LLT Classification code 10008791 Term: Choroideremia System Organ Class: 100000004853 MedDRA version: 20.0 Level: PT Classification code 10038914 Term: Retinitis pigmentosa System Organ Class: 10010331 - Congenital, familial and genetic disorders

Interventions

Product Name: AAV2-REP1 Product Code: AAV2-REP1 Pharmaceutical Form: Suspension for injection INN or Proposed INN: timrepigene emparvovec CAS Number: 1905415-02-2 Current Sponsor code: AAV2-REP1 Other

Eligibility

Sex/Gender

Male

Inclusion criteria

Inclusion criteria: CHM Participants: a. Are willing and able to give informed consent for participation in the study, and b. Have participated in and exited from an interventional study that investigated the safety and efficacy of a sub-retinal injection of AAV2-REP1 for CHM XLRP Participants: a. Are willing and able to give informed consent for participation in the study b. Have received a sub-retinal injection of AAV8-RPGR for XLRP and have exited an antecedent study Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 330 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: In the opinion of the investigator and/or the Sponsor, it is not in the participant’s best interest to participate in the study.

Design outcomes

Primary

Measure	Time frame
Main Objective: To evaluate the long-term safety and efficacy of a sub retinal injection of: • AAV2-REP1 in participants with CHM who have been previously treated with AAV2-REP1 and who have exited an antecedent study; these treated participants will be compared with untreated control participants who have exited the STAR study. • AAV8-RPGR in participants with XLRP who have been previously treated with AAV8-RPGR and who have exited an antecedent study.;Secondary Objective: Not applicable;Primary end point(s): The primary endpoint of this study is safety of AAV2-REP1 and AAV8-RPGR, which will be evaluated through adverse event (AE) reporting and full ophthalmic examinations. Datasets from the 2 disease populations will be analyzed separately. ;Timepoint(s) of evaluation of this end point: Safety assessments will be performed as per protocol	—

Measure

Time frame

Main Objective: To evaluate the long-term safety and efficacy of a sub retinal injection of: • AAV2-REP1 in participants with CHM who have been previously treated with AAV2-REP1 and who have exited an antecedent study; these treated participants will be compared with untreated control participants who have exited the STAR study. • AAV8-RPGR in participants with XLRP who have been previously treated with AAV8-RPGR and who have exited an antecedent study.;Secondary Objective: Not applicable;Primary end point(s): The primary endpoint of this study is safety of AAV2-REP1 and AAV8-RPGR, which will be evaluated through adverse event (AE) reporting and full ophthalmic examinations. Datasets from the 2 disease populations will be analyzed separately. ;Timepoint(s) of evaluation of this end point: Safety assessments will be performed as per protocol

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Secondary

Measure	Time frame
Secondary end point(s): • Change from Baseline in best-corrected visual acuity (BCVA) as measured by the Early Treatment of Diabetic Retinopathy Study (ETDRS) chart • Proportion of participants with no decrease from Baseline in BCVA or a decrease from Baseline in BCVA of <5 ETDRS letters (in CHM subjects only) • Proportion of participants with an increase from Baseline in BCVA of =10 ETDRS letters (in CHM subjects only) • Proportion of participants with an increase from Baseline in BCVA of =15 ETDRS letters (in CHM subjects only) • Available assessments of fundus autofluorescence at each visit • Available assessments of fundus photography at each visit • Available assessments of spectral-domain optical coherence tomography (SD-OCT) at each visit • Available assessments of microperimetry at each visit • Change from Baseline in the 25-Item Visual Function Questionnaire (VFQ-25) • Change from Baseline in visual field (in AAV8-RPGR-treated participants only) • Proportion of participants with an increase from Baseline in low luminance visual acuity (LLVA) of =10 ETDRS letters (in AAV8-RPGR-treated participants only) • Proportion of participants with an increase from Baseline in LLVA of =15 ETDRS letters (in AAV8-RPGR-treated participants only) Datasets from the 2 disease populations will be analyzed separately.;Timepoint(s) of evaluation of this end point: Visual assessments will be performed as per protocol	—

Measure

Time frame

Secondary end point(s): • Change from Baseline in best-corrected visual acuity (BCVA) as measured by the Early Treatment of Diabetic Retinopathy Study (ETDRS) chart • Proportion of participants with no decrease from Baseline in BCVA or a decrease from Baseline in BCVA of <5 ETDRS letters (in CHM subjects only) • Proportion of participants with an increase from Baseline in BCVA of =10 ETDRS letters (in CHM subjects only) • Proportion of participants with an increase from Baseline in BCVA of =15 ETDRS letters (in CHM subjects only) • Available assessments of fundus autofluorescence at each visit • Available assessments of fundus photography at each visit • Available assessments of spectral-domain optical coherence tomography (SD-OCT) at each visit • Available assessments of microperimetry at each visit • Change from Baseline in the 25-Item Visual Function Questionnaire (VFQ-25) • Change from Baseline in visual field (in AAV8-RPGR-treated participants only) • Proportion of participants with an increase from Baseline in low luminance visual acuity (LLVA) of =10 ETDRS letters (in AAV8-RPGR-treated participants only) • Proportion of participants with an increase from Baseline in LLVA of =15 ETDRS letters (in AAV8-RPGR-treated participants only) Datasets from the 2 disease populations will be analyzed separately.;Timepoint(s) of evaluation of this end point: Visual assessments will be performed as per protocol

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Countries

Brazil, Canada, Denmark, Finland, France, Germany, Netherlands, United Kingdom, United States

Contacts

Public ContactClinical Operations Department

NightstaRx Ltd (A Biogen Company)

enquiries@nightstartx.com+44(0)16285 12604

Outcome results

None listed

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