Gene Therapy for Retinitis Pigmentosa

Recruiting in Palo Alto (17 mi)

Age: 18+

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 1 & 2

Recruiting

Sponsor: Bionic Sight LLC

Disqualifiers: Prior AAV therapy, Nystagmus

No Placebo Group

Trial Summary

What is the purpose of this trial?

This trial tests a modified virus that carries a light-sensitive gene to help people with vision problems. The virus delivers this gene to eye cells, making them respond to light and potentially improving vision.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What data supports the effectiveness of the treatment BS01, BS01, ChronosFP for retinitis pigmentosa?

Research shows that gene therapy can effectively preserve vision in retinitis pigmentosa, even when started at later stages of the disease. Additionally, the Chronos protein used in optogenetic gene therapy has been shown to be effective and safe in preclinical trials, suggesting potential benefits for patients with retinal degenerative diseases. ^{1 2 3 4 5}

Is gene therapy for retinitis pigmentosa safe for humans?

Gene therapy for retinitis pigmentosa has been tested in humans and animals, showing no major safety concerns. In one human trial, some patients experienced inflammation that responded to steroids, but overall, the treatment was well tolerated. ^{1 5 6 7 8}

What makes the treatment BS01 unique for retinitis pigmentosa?

BS01, also known as ChronosFP, is unique because it uses optogenetic gene therapy, which involves using light-sensitive proteins to restore vision in patients with retinal degenerative diseases like retinitis pigmentosa. This approach is different from traditional treatments as it directly targets the genetic cause of the disease and has shown promise in preclinical trials for being effective and well-tolerated. ^{1 2 5 6 9}

Research Team

Sheila Nirenberg, PhD

Principal Investigator

Bionic Sight LLC

Eligibility Criteria

This trial is for individuals with confirmed retinitis pigmentosa who have very limited vision, described as 'bare light perception', in at least one eye. It's not open to those who've previously received any AAV gene therapy or have large amplitude nystagmus, which is a condition where the eyes make repetitive, uncontrolled movements.

Inclusion Criteria

You can only see very minimal light with at least one eye.

I have been diagnosed with retinitis pigmentosa.

Exclusion Criteria

I have never received AAV gene therapy before.

I experience severe involuntary eye movements.

Trial Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive BS01, a recombinant adeno-associated virus vector expressing ChronosFP, in a dose escalation study

12 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

12 months

Treatment Details

Interventions

• BS01 (Virus Therapy)

Trial Overview The study involves BS01, a genetic treatment using a modified virus to deliver genes into cells of the eye. This early-phase trial will test different doses to see how safe it is and what effects it has on patients' vision.

Participant Groups

Group I: Cohort 4 Experimental Treatment 1 Intervention

BS01 Cohort4 dose

Group II: Cohort 3 Experimental Treatment 1 Intervention

BS01 Cohort 3 dose

Group III: Cohort 2 Experimental Treatment 1 Intervention

BS01 Cohort 2 dose

Group IV: Cohort 1 Experimental Treatment 1 Intervention

BSO1 Cohort 1 dose

Find a Clinic Near You

Research Locations Nearby Select from list below to view details:

OCLI New York, NY

Who Is Running the Clinical Trial?

Bionic Sight LLC

Lead Sponsor

Trials

1

Patients Recruited

20+

Findings from Research

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Halting progressive neurodegeneration in advanced retinitis pigmentosa. Koch, SF., Tsai, YT., Duong, JK., et al.[2018]

In a mouse model of retinitis pigmentosa, gene therapy successfully restored function and structure of photoreceptor cells even when treatment was administered at an advanced disease stage, showing sustained efficacy for at least 1 year.

These findings suggest that retinal gene therapy could be a viable treatment option for patients with retinitis pigmentosa, even after significant degeneration has occurred.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Success of Gene Therapy in Late-Stage Treatment. Koch, SF., Tsang, SH.[2019]

Both patients with PRPF31-related retinitis pigmentosa experienced similar clinical courses, with early onset of night blindness and relatively preserved visual acuity into their 30s, but significant deterioration of their visual fields starting in their teens.

Genetic analysis confirmed that mutations in the PRPF31 gene were responsible for their autosomal dominant retinitis pigmentosa, highlighting the importance of genetic testing in understanding the progression of this condition.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. Kurata, K., Hosono, K., Hotta, Y.[2018]

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up. Lisbjerg, K., Bertelsen, M., Lyng Forman, J., et al.[2023]

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A clinically viable approach to restoring visual function using optogenetic gene therapy. Yan, B., Viswanathan, S., Brodie, SE., et al.[2023]

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Cehajic-Kapetanovic, J., Xue, K., Martinez-Fernandez de la Camara, C., et al.[2023]

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa. Pensado, A., Diaz-Corrales, FJ., De la Cerda, B., et al.[2018]

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. Weleber, RG., Pennesi, ME., Wilson, DJ., et al.[2017]

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Gene therapy for retinitis pigmentosa. Bennett, J.[2012]

References

1. United States pubmed.ncbi.nlm.nih.gov

Halting progressive neurodegeneration in advanced retinitis pigmentosa. [2018]

2. United States pubmed.ncbi.nlm.nih.gov

Success of Gene Therapy in Late-Stage Treatment. [2019]

3. Japan pubmed.ncbi.nlm.nih.gov

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. [2018]

4. England pubmed.ncbi.nlm.nih.gov

Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up. [2023]

5. United States pubmed.ncbi.nlm.nih.gov

A clinically viable approach to restoring visual function using optogenetic gene therapy. [2023]

6. United States pubmed.ncbi.nlm.nih.gov

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. [2023]

7. United States pubmed.ncbi.nlm.nih.gov

Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa. [2018]

8. United States pubmed.ncbi.nlm.nih.gov

Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. [2017]

9. England pubmed.ncbi.nlm.nih.gov

Gene therapy for retinitis pigmentosa. [2012]