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Retinal DystrophyPhase 1/2NCT07177196

Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy

A Phase 1/2 study testing nL-PRPH2-001 in people with Retinal Dystrophy, run by n-Lorem Foundation at 1 site in United States.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record
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Trial summary

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Retinal Dystrophy due to PRPH2 mutation Read more about this study

Who is it for?
Any age, women only
Conditions the study is for
Retinal Dystrophy
What is being tested?
nL-PRPH2-001
Could I receive a placebo?
No, everyone receives an active treatment
How many people
1 participants
Where
1 siteUnited States
Study dates
28 Aug 2025to Aug 2027
Phase
Phase 1/2
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • Women only
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • Have a clinical diagnosis of retinal dystrophy as a result of the PRPH2 variant
  • Have written informed consent (signed and dated), and able to comply with all study requirements, and any authorization required by local law
  • Be able to travel to the study site and adhere to study related follow-up examinations and/or procedures
  • Have a molecular diagnosis of a heterozygous PRPH2 variant: c.623G>A (p.Gl208Asp) based on genetic testing at Screening (a historic genetic testing report from a certified laboratory is acceptable with Sponsor/Investigator approval)
  • Have a BCVA in the worse eye of at least Count Fingers (CF) or better
  • Have clear ocular media and adequate pupillary dilation to permit good quality retinal imaging, as determined by the Investigator
  • Be a non-pregnant and non-lactating female, and either surgically sterile (e.g., ≥6 weeks post bilateral salpingectomy, bilateral oophorectomy with or without hysterectomy, tubal ligation) or post-menopausal (12 months of spontaneous amenorrhea in females >55 years of age or, in females < 55 years, have had 12 months of spontaneous amenorrhea without alternative medical cause); male participants and their female partners of childbearing potential must use appropriate contraception methods, or refrain from sexual activity for the duration of the study and for 3 months after the last study treatment; for women of childbearing potential for whom the Investigator considers that the potential benefit outweighs any risk to the unborn fetus, a highly effective method of contraception must be used

Who cannot join

  • There is any condition that in the opinion of the Investigator, would ultimately prevent the participant from completion of the study procedures
  • There is a present (current) active ocular infection (including herpes simplex virus, varicella zoster or cytomegalovirus) in either eye
  • There is current cystoid macular edema (CME) in the treatment eye(s); CME is permissible if stable for 3 months in the opinion of the Investigator (with or without treatment); past CME is permissible if resolved for more than 1 month
  • There are lens opacities in the eye(s) to be treated that are clinically significant in the opinion of the Investigator or that would prevent clinical and photographic evaluation of the retina
  • Receipt within 1 month prior to informed consent of any intraocular or periocular surgery, or IVT injection, or planned/anticipated intraocular surgery or procedure during the course of the study
  • There is current use of, or treatment within the past 3 months or planned treatment of drugs known to be toxic to the lens, retina or optic nerve including but not limited to systemic/intraocular steroids, amiodarone, desferriosamine/desferoxamine, chloroquine/hydroxychloroquine sulfate (Plaquenil), tamoxifen, ethambutol, phenothiazine derivatives including chlorpromazine, fluphenazine (deconoate) levomepromazine, and thioridazine; intermittent use of intraocular steroids may be considered for inclusion following approval by the Investigator
Show all 13Show fewer
  • Any prior receipt of genetic or stem-cell therapy for ocular or non-ocular disease
  • There is any secondary or alternate genetic cause of retinal disease other than the heterozygous PRPH2 c.623G>A (p.Gly208Asp) variant
  • There has been use of any investigational drug or device within 3 months or 5 half-lives of the first treatment day (Day 1), whichever is longer, or plans to participate in another study of a drug or device during the trial period and for 3 months after the end of the trial period
  • There is presence of any significant ocular/non-ocular disease/disorder (including laboratory abnormalities) which, in the opinion of the Investigator, may put the participant at risk, or may influence the results of the trial, or impact the ability of the participant to participate in the trial
  • The intraocular pressure in the eye(s) to be treated is greater than 25 mmHg (even in the presence of glaucoma or ocular hypertension which is stabilized on therapy)
  • Prior pars plana vitrectomy in the eye(s) to be treated that may affect treatment in the opinion of the Investigator
  • Presence of any intravitreal device (e.g., steroid implant)

Trial locations and contacts

1 site in 1 country.

United States1 site

  • University of California San Diego

    San Diego, California, 92093

Other trials in United States

About this study

Official title: An Open-label Single Center Study of an Individualized Antisense Oligonucleotide Treatment for Retinal Dystrophy Associated With a Pathogenic PRPH2 Variant

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Retinal Dystrophy due to PRPH2 mutation

Read the detailed description

This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with Retinal Dystrophy due to PRPH2 mutation

Being tested
nL-PRPH2-001
Medical subject headings
Retinal Dystrophies

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • nL-PRPH2-001Drug

    Personalized antisense oligonucleotide

Study groups in NCT07177196
Study groupRoleWhat they receive
Open LabelExperimentalNot described
Receives: Drug: nL-PRPH2-001

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Safety and Tolerability

    Incidence and severity of treatment emergent ocular adverse events (TEAEs) and serious ocular adverse events

    Measured: Baseline to 24 months

  2. Safety and Tolerability

    Incidence and severity of non-ocular TEAEs and Serious non-ocular adverse events

    Measured: Baseline to 24 months

  3. Safety and Tolerability

    Change from baseline to Best Corrected Visual Acuity (BCVA) and Low Luminance Visual Acuity (LLVA) as measured at every visit

    Measured: Baseline to 24 months

  4. Safety and Tolerability

    Change in Slit-lamp biomicroscopy including intraocular pressure (IOP), and dilated indirect ophthalmoscopy

    Measured: Baseline to 24 months

  5. Safety and Tolerability

    Change in full field electroretinograophy (ffERG) results as measured by electrical activity in the retina

    Measured: Baseline to 24 months

  6. Safety and Tolerability

    Incidence of treatment emergent abnormalities in safety labs

    Measured: Baseline to 24 months

  7. Safety and Tolerability

    Incidence of treatment emergent abnormalities in physical exams

    Measured: Baseline to 24 months

  8. Safety and Tolerability

    Incidence of treatment emergent abnormalities in vital signs

    Measured: Baseline to 24 months

Secondary outcomes (6)

  1. Structure and Function

    Change from baseline in Spectral domain - Optical Coherence Tomography (SD-OCT)

    Measured: Baseline to 24 months

  2. Structure and Function

    Change in dilated fundus photography

    Measured: Baseline to 24 months

  3. Structure and Function

    Change in ultra-widefield fundus autofluorescence (UWF-FAF and Heidelberg FAF)

    Measured: Baseline to 24 months

  4. Structure and Function

    Change in visual field testing (microperimetry)

    Measured: Baseline to 24 months

  5. Structure and Function

    Change in participant's visual quality of life as measured by NEI VFQ-25

    Measured: Baseline to 24 months

  6. Structure and Function

    Change in Best Corrected Visual Acuity (BCVA)

    Measured: Baseline to 24 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted16 Sep 2025
  2. Study start28 Aug 2025
  3. Primary completionAug 2027 (estimated)
  4. Study completionAug 2027 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 1/2
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrolment
1 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT07177196
Sponsor's protocol ID
812793
Status last verified
Sep 2025
First submitted
2 Sep 2025
Last updated
16 Sep 2025
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
Individual data sharing
Undecided

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing nL-PRPH2-001 in people with Retinal Dystrophy, run by n-Lorem Foundation at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 7 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: under way, not looking for participants, as of the sponsor's last update on 16 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Safety and Tolerability (time frame: Baseline to 24 months). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT07177196.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Sep 2025.

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