A Phase 1/2 interventional study of AAV2-hCHM in Choroideremia and CHM (Choroideremia) Gene Mutations, sponsored by Spark Therapeutics, Inc.. Completed at 3 sites in United States. Open to male participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-01-25.
Sponsored by Spark Therapeutics, Inc. · Phase 1/2, Interventional, and Treatment
This clinical study evaluates the safety and tolerability of AAV2-hCHM in participants with Choroideremia gene mutations.
The primary objective is to evaluate the safety and tolerability of subretinal administration of AAV2-hCHM, in an inter-subject group dose escalation in individuals with choroideremia, based on a comprehensive clinical monitoring plan. The secondary objectives are to define the dose of AAV2-hCHM required to achieve stable, or improved, visual function/functional vision and to assess development of immune responses to adeno-associated virus vector, serotype 2 (AAV2) and Rab escort protein 1 (REP-1).
29 studies on the registry are indexed under Choroideremia; 6 are open to participants now.
This study's enrollment of 15 is close to the median of 14 across 19 interventional studies indexed under Choroideremia.
Browse Choroideremia studies →Spark Therapeutics, Inc. is the lead sponsor of 14 studies on the registry; none are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
Single, unilateral subretinal administration of a single low dose range of AAV2-hCHM.
Biological: AAV2-hCHM
Single, unilateral subretinal administration of a single high dose range of AAV2-hCHM.
Biological: AAV2-hCHM
Single, unilateral subretinal administration of a single high dose range of AAV2-hCHM.
Biological: AAV2-hCHM
Comparison of different dosages of AAV2-hCHM
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
An adverse event (AE) was defined as any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. TEAEs were AEs that occurred on or after the day of study drug administration. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.
Time frame: Up to 5 years
Number of Participants With Anti-AAV2 Viral Capsid Antibody Titers That Rose Above Baseline At Least Once After Dosing
Number of participants who were found to have quantifiable levels (above 1.55 micrograms \[μg\]/milliliter \[mL\]) of Anti-AAV2 viral capsid antibodies titer in the blood at least 1 study visit up to 2 years were reported.
Time frame: Up to 2 years
Number of Participants With Cellular Immune Response to AAV2 Through Interferon Gamma Enzyme-linked Immunosorbent Spot (ELISpot) Assay
Interferon gamma ELISpot assays were used to evaluate the cellular immune response to AAV2 antigen in collected peripheral blood mononuclear cell (PBMC) samples. Number of participants who demonstrated immune response to the AAV2 antigen were reported.
Time frame: Up to 2 years
Number of Participants With Cellular Immune Response to Rab Escore Protein-1 (REP-1) Through Interferon Gamma ELISPOT Assay
Interferon gamma ELISpot assays were used to evaluate the cellular immune response to REP-1 antigen in collected PBMC samples. Number of participants who demonstrated immune response to the REP-1 antigen were reported.
Time frame: Up to 2 years
| Milestone | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Started | 5 | 5 | 5 |
| Received at least 1 dose of study drug | 5 | 5 | 5 |
| Completed | 5 | 4 | 5 |
| Not completed | 0 | 1 | 0 |
An adverse event (AE) was defined as any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. TEAEs were AEs that occurred on or after the day of study drug administration. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.
| Participants | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Number of Participants With Treatment-Emergent Adverse Events (TEAEs) | 5 | 5 | 5 |
Number of participants who were found to have quantifiable levels (above 1.55 micrograms \[μg\]/milliliter \[mL\]) of Anti-AAV2 viral capsid antibodies titer in the blood at least 1 study visit up to 2 years were reported.
| Participants | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Number of Participants With Anti-AAV2 Viral Capsid Antibody Titers That Rose Above Baseline At Least Once After Dosing | 0 | 1 | 3 |
Interferon gamma ELISpot assays were used to evaluate the cellular immune response to AAV2 antigen in collected peripheral blood mononuclear cell (PBMC) samples. Number of participants who demonstrated immune response to the AAV2 antigen were reported.
| Participants | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Number of Participants With Cellular Immune Response to AAV2 Through Interferon Gamma Enzyme-linked Immunosorbent Spot (ELISpot) Assay | 0 | 0 | 0 |
Interferon gamma ELISpot assays were used to evaluate the cellular immune response to REP-1 antigen in collected PBMC samples. Number of participants who demonstrated immune response to the REP-1 antigen were reported.
| Participants | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Number of Participants With Cellular Immune Response to Rab Escore Protein-1 (REP-1) Through Interferon Gamma ELISPOT Assay | 2 | 0 | 0 |
Collected over Up to 5 years. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Cohort 1: AAV2-hCHM Dose 1 | 0/5 (0%) | 1/5 (20%) | 5/5 (100%) |
| Cohort 2: AAV2-hCHM Dose 2 | 0/5 (0%) | 2/5 (40%) | 5/5 (100%) |
| Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 | 0/5 (0%) | 2/5 (40%) | 5/5 (100%) |
| Event | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Macular holeEye disorders | 0/5 | 0/5 | 1/5 |
| Visual acuity reducedEye disorders | 0/5 | 1/5 | 0/5 |
| Abscess limbInfections and infestations | 0/5 | 1/5 | 0/5 |
| Cervical vertebral fractureInjury, poisoning and procedural complications | 1/5 | 0/5 | 0/5 |
| ConcussionInjury, poisoning and procedural complications | 1/5 | 0/5 | 0/5 |
| Facial bones fractureInjury, poisoning and procedural complications | 1/5 | 0/5 | 0/5 |
| FallInjury, poisoning and procedural complications | 1/5 | 0/5 | 0/5 |
| Road traffic accidentInjury, poisoning and procedural complications | 1/5 | 0/5 | 0/5 |
| Extragonadal primary seminoma (pure)Neoplasms benign, malignant and unspecified (incl cysts and polyps) | 0/5 | 0/5 | 1/5 |
| Event | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 |
|---|---|---|---|
| Conjunctival haemorrhageEye disorders | 0/5 | 0/5 | 4/5 |
| Eye painEye disorders | 3/5 | 1/5 | 0/5 |
| CataractEye disorders | 2/5 | 2/5 | 1/5 |
| COVID-19Infections and infestations | 0/5 | 0/5 | 2/5 |
| SinusitisInfections and infestations | 0/5 | 2/5 | 1/5 |
| Suture related complicationInjury, poisoning and procedural complications | 1/5 | 0/5 | 2/5 |
| Rhinitis allergicRespiratory, thoracic and mediastinal disorders | 2/5 | 0/5 | 0/5 |
| Ear painEar and labyrinth disorders | 0/5 | 1/5 | 0/5 |
| BlepharospasmEye disorders | 0/5 | 0/5 | 1/5 |
| Cataract nuclearEye disorders | 0/5 | 1/5 | 0/5 |
The full analysis set (FAS) included all participants who received the investigational product.
| Age, Continuous(years) | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 | Total |
|---|---|---|---|---|
| Mean | 37.0 ± 7.52 | 39.6 ± 11.65 | 27.0 ± 5.00 | 34.5 ± 9.68 |
| Sex: Female, Male(Participants) | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 | Total |
|---|---|---|---|---|
| Female | 0 | 0 | 0 | 0 |
| Male | 5 | 5 | 5 | 15 |
| Ethnicity (NIH/OMB)(Participants) | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 | Total |
|---|---|---|---|---|
| Hispanic or Latino | 0 | 0 | 0 | 0 |
| Not Hispanic or Latino | 5 | 5 | 5 | 15 |
| Unknown or Not Reported | 0 | 0 | 0 | 0 |
| Race (NIH/OMB)(Participants) | Cohort 1: AAV2-hCHM Dose 1 | Cohort 2: AAV2-hCHM Dose 2 | Cohort 3 (Expansion Cohort): AAV2-hCHM Dose 2 | Total |
|---|---|---|---|---|
| American Indian or Alaska Native | 0 | 0 | 0 | 0 |
| Asian | 0 | 0 | 0 | 0 |
| Native Hawaiian or Other Pacific Islander | 0 | 0 | 0 | 0 |
| Black or African American | 0 | 0 | 0 | 0 |
| White | 5 | 5 | 5 | 15 |
| More than one race | 0 | 0 | 0 | 0 |
| Unknown or Not Reported | 0 | 0 | 0 | 0 |
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Spark Therapeutics, Inc.