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Timrepigene Emparvovec

This article discusses the ongoing clinical trial evaluating the long-term safety and effectiveness of Timrepigene Emparvovec, a gene therapy treatment for two rare eye conditions: Choroideremia (CHM) and X-Linked Retinitis Pigmentosa (XLRP). The study, known as SOLSTICE, follows up on patients who have previously received this innovative treatment in earlier trials, aiming to assess its lasting impact on vision and overall eye health.

Table of Contents

What is TIMREPIGENE EMPARVOVEC?

TIMREPIGENE EMPARVOVEC, also known as BIIB111 or AAV2-REP1, is a gene therapy product designed to treat certain inherited eye disorders[1]. It is classified as an advanced therapy medicinal product, specifically a gene therapy[1]. This innovative treatment uses a modified virus to deliver a healthy copy of a specific gene to the cells in the eye.

Medical Conditions Treated

TIMREPIGENE EMPARVOVEC is being studied for the treatment of two rare genetic eye disorders:

  • Choroideremia (CHM): A rare inherited disorder that causes progressive vision loss, primarily affecting males[1].
  • X-Linked Retinitis Pigmentosa (XLRP): Another rare genetic condition causing vision loss, also primarily affecting males[1].

Both of these conditions fall under the broader category of retinitis pigmentosa, which refers to a group of inherited eye disorders affecting the retina[1].

How It Works

TIMREPIGENE EMPARVOVEC is designed as a gene therapy vector containing a healthy copy of the REP1 gene (Rab Escort Protein 1)[1]. Here’s how it works:

  1. The therapy uses a modified virus called adeno-associated virus serotype 2 (AAV2) as a carrier.
  2. This virus is engineered to carry a healthy copy of the REP1 gene.
  3. When injected into the eye, it can infect both dividing and non-dividing cells in the retina.
  4. The healthy gene remains in the cell without integrating into the patient’s DNA.
  5. This allows the cells to produce the normal REP1 protein, potentially slowing or stopping the progression of vision loss.

The goal of this therapy is to prevent further deterioration of vision or potentially restore some lost function in patients with CHM[1].

Administration

TIMREPIGENE EMPARVOVEC is administered as a subretinal injection[1]. This means the medication is injected directly under the retina of the eye. This is a specialized procedure that must be performed by an experienced ophthalmologist.

Clinical Trial Information

A long-term follow-up study called SOLSTICE is being conducted to evaluate the safety and efficacy of TIMREPIGENE EMPARVOVEC in patients who have previously received the treatment in earlier studies[1]. This study aims to gather data on the long-term effects of the therapy.

Eligibility Criteria

For the SOLSTICE study, participants must meet the following criteria:

  • For CHM participants:
    • Must be willing and able to give informed consent
    • Must have participated in and completed a previous study investigating AAV2-REP1 for CHM
  • For XLRP participants:
    • Must be willing and able to give informed consent
    • Must have received a subretinal injection of AAV8-RPGR for XLRP in a previous study

Participants may be excluded if, in the opinion of the investigator or sponsor, it is not in their best interest to participate in the study[1].

Safety and Efficacy Assessments

The study will assess various aspects of vision and eye health to determine the long-term safety and effectiveness of the treatment. These assessments include:

  • Visual acuity: Measuring how well participants can see using standardized eye charts[1].
  • Fundus autofluorescence: A non-invasive imaging technique to examine the health of the retina[1].
  • Optical coherence tomography (OCT): An imaging method that provides detailed cross-sectional images of the retina[1].
  • Microperimetry: A test to measure the sensitivity of different areas of the retina[1].
  • Visual Function Questionnaire: A survey to assess how vision affects daily activities and quality of life[1].

These assessments will help researchers understand how well the treatment works over time and whether it continues to be safe for patients.

Aspect Details
Drug Name Timrepigene Emparvovec (BIIB111)
Conditions Treated Choroideremia (CHM) and X-Linked Retinitis Pigmentosa (XLRP)
Administration Method Subretinal injection
Study Type Long-term follow-up safety and efficacy study
Primary Endpoint Safety assessments as per protocol
Key Secondary Endpoints Changes in visual acuity, visual field, and quality of life measures
Follow-up Duration Up to 72 months (6 years)
Eligibility Participants previously treated with AAV2-REP1 (for CHM) or AAV8-RPGR (for XLRP) in antecedent studies

FAQ

  • What is Timrepigene Emparvovec? Timrepigene Emparvovec is a gene therapy treatment designed to treat Choroideremia and X-Linked Retinitis Pigmentosa. It uses a modified virus to deliver a healthy copy of a specific gene (REP1 for CHM or RPGR for XLRP) to the retina, potentially slowing or stopping vision loss.
  • How is the treatment administered? The treatment is administered through a subretinal injection, which means it's injected directly under the retina of the eye. This allows the gene therapy to target the specific cells affected by the condition.
  • What are the main goals of this clinical trial? The main goals are to evaluate the long-term safety of the treatment and to assess its effectiveness in maintaining or improving vision in patients who have previously received the therapy in earlier studies.
  • What kind of tests will participants undergo during the trial? Participants will undergo various vision tests, including best-corrected visual acuity (BCVA), low luminance visual acuity (LLVA), visual field tests, and imaging studies such as fundus photography and optical coherence tomography (OCT). They will also complete quality of life questionnaires.
  • How long will the trial follow the participants? The trial is designed to follow participants for up to 72 months (6 years) to assess the long-term effects of the treatment.

Ongoing Clinical Trials on Timrepigene Emparvovec

  • Long-term Safety and Efficacy Study of Gene Therapy for Choroideremia and X-Linked Retinitis Pigmentosa Using AAV2-REP1 and AAV8-RPGR in Previously Treated Patients

    Recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    France Germany

Glossary

  • Choroideremia (CHM): A rare genetic eye disorder that causes progressive vision loss, primarily affecting males. It's caused by a mutation in the CHM gene, which leads to degeneration of the choroid, retina, and retinal pigment epithelium.
  • X-Linked Retinitis Pigmentosa (XLRP): A genetic eye disorder causing progressive vision loss, primarily affecting males. It's linked to mutations on the X chromosome and leads to degeneration of photoreceptor cells in the retina.
  • Gene Therapy: A technique that uses genes to treat or prevent disease. In this case, it involves delivering a healthy copy of a gene to replace or supplement the function of a faulty gene.
  • Adeno-Associated Viral Vector (AAV): A modified virus used to deliver genetic material into cells. It's commonly used in gene therapy because it's safe and can effectively target specific cell types.
  • Subretinal Injection: A method of delivering medication or gene therapy directly under the retina, allowing for precise targeting of affected cells in eye disorders.
  • Best-Corrected Visual Acuity (BCVA): A measure of the sharpness of vision when wearing the best possible vision correction (like glasses or contact lenses).
  • Low Luminance Visual Acuity (LLVA): A measure of vision in dim light conditions, which can be particularly affected in some eye disorders.
  • Fundus Autofluorescence: An imaging technique that can detect changes in the retina and underlying tissues by capturing the natural fluorescence of certain eye structures.
  • Optical Coherence Tomography (OCT): A non-invasive imaging test that uses light waves to take cross-section pictures of the retina, allowing doctors to see each of the retina's distinctive layers.
  • Microperimetry: A technique that measures visual sensitivity at different locations in the visual field, helping to assess retinal function.

References

  1. http://clinicaltrials.eu/trial/long-term-safety-and-efficacy-study-of-gene-therapy-for-choroideremia-and-x-linked-retinitis-pigmentosa-using-aav2-rep1-and-aav8-rpgr-in-previously-treated-patients/