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One-Time gene injection aims to restore sight in rare childhood blindness

NCT ID NCT00481546

Cure Sponsor: University of Pennsylvania Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 17, 2026 · Last updated Jul 17, 2026

Summary

This trial tests a gene therapy for people with a rare inherited eye disease called Leber congenital amaurosis, caused by mutations in the RPE65 gene. A harmless virus is used to deliver a working copy of the gene into cells under the retina. The goal is to restore vision with a single injection. The study includes both adults and children and is primarily checking for safety.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
a gene therapy vector carrying a working copy of the RPE65 gene, injected under the retina
What this could lead to
If successful, this could lead to a one-time gene therapy that restores vision in people with a rare, inherited form of blindness.
What could go wrong
This is an early-phase trial focused on safety, so it is too soon to know if the treatment will work. There are risks from the injection itself and the immune system may react to the virus used to deliver the gene.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 1

The first testing in people. Mainly checks safety and dose, usually in a small group.

Participants

15 people

The number who actually took part.

Start date

Jul 2007

Finished

Dec 2016

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

8 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * RPE65-associated retinal disease (two disease-causing RPE65 mutations); * Clinical diagnosis of Leber congenital amaurosis (LCA)/early-onset retinal degeneration (EORD) and of severely impaired visual and retinal function, and best corrected visual acuity of 20/40 or worse in the study eye; * Ability to perform tests of visual and retinal function; * Visible photoreceptor layer on a standard OCT scan; * Good general health; * Ability to comply with research procedures; * Specific for Cohorts 1, 2 and 4: 18 years of age and older; * Specific for Cohorts 3 and 5: Between 8 and 17 years of age, inclusive. Exclusion Criteria: * AAV antibody titers greater than two standard deviations above normal at baseline; * Humoral immune deficiency as evidenced by low tetanus toxoid IgG antibody titers; * Pre-existing eye conditions that would preclude the planned surgery or interfere with the interpretation of study endpoints or surgical complications; * Complicating systemic diseases; * Use of anti-platelet agents that may alter coagulation within 7 days prior to study agent administration; * Use of immunosuppressive medications; * Pregnancy or breastfeeding; * Individuals (males and females) of childbearing potential who are unwilling to use effective contraception; * Any condition that would prevent a subject from completing follow-up examinations during the course of the study; * Any condition that makes the subject unsuitable for the study; * Current, or recent participation, in any other research protocol involving investigational agents or therapies; * Recent receipt of an investigational biologic therapeutic agent.

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Conditions

The condition(s) this trial relates to.

Leber congenital amaurosis retinal disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Amaurosis of Leber Retinal diseases

Contacts and locations

Locations

  • Scheie Eye Institute, University of Pennsylvania

    Philadelphia, Pennsylvania, 19104, United States

  • Shands Children's Hospital, University of Florida

    Gainesville, Florida, 32610, United States

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