Inherited Retinal DiseasesEarly Phase 1NCT06749639
Safety and Efficacy Study of PUMCH-E101 Injection in Subjects with RDH12 Retinopathy
A Early Phase 1 study testing PUMCH-E101 Injection（Low dose） and PUMCH-E101 Injection（High dose） in people with Inherited Retinal Diseases, run by Peking Union Medical College Hospital at 1 site in China.
Trial summary
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy. Read more about this study
- Who is it for?
- Ages 8 to 45 years
- Conditions the study is for
- Inherited Retinal Diseases
- What is being tested?
- PUMCH-E101 Injection（Low dose） and PUMCH-E101 Injection（High dose）
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteChina
- Study dates
- 20 Sep 2024to 4 Jan 2030
- Phase
- Early Phase 1
- 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 8 to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Subjects voluntarily participate and sign the informed consent form;
- Age between 8-45 years old, gender is not limited;
- Clinical diagnosis of IRD caused by RDH12 mutations;
- The Best Corrected Visual Acuity (BCVA) detected by the Early Treatment Diabetic Retinopathy Study (ETDRS) eye chart in the study eye is less than or equal to 63 letters, which is equivalent to 20/63 of the Snellen Eye Chart;
- At screening, the blood pregnancy test result of females of childbearing potential (e.g., females who have not undergone surgical sterilization or less than 1 year after menopause) is negative. Male and female subjects of childbearing potential agree to use effective contraception throughout the study and for at least 12 months after dosing.
Who cannot join
- Opacity of refractive media or inability to dilate pupils in the study eye that significantly interferes with visual acuity detection, anterior segment or fundus assessment;
- Presence of diabetic retinopathy, retinal vein occlusion, pathological myopia, retinal detachment, or other conditions in the study eye that are assessed by the investigator as affecting the safety of the subject or the validity of the study;
- Any intraocular surgery in the study eye within 3 months prior to screening;
- Active intraocular or periocular infection (such as blepharitis, conjunctivitis, keratitis, scleritis, etc.) in the study eye;
- History of uveitis in either eye；
- Those with diffuse intravascular coagulation and obvious bleeding tendency (such as hemoptysis, hematemesis, severe purpura, etc.) within 3 months before screening;
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- History of myocardial infarction, unstable angina, coronary revascularization, cerebrovascular accident (including TIA), history of other thromboembolic diseases (such as thromboembolic angiitis, pulmonary embolism, deep vein thrombosis, portal vein thrombosis, etc.), New York Heart Association (NYHA) grade ≥ II cardiac insufficiency, severe unstable ventricular arrhythmia, within 6 months prior to screening;
- Subjects with systemic immune diseases (including systemic lupus erythematosus, ankylosing spondylitis, rheumatoid arthritis, etc.);
- Diabetic patients with any of the following conditions: Known macrovascular complications or Glycosylated hemoglobin at screening（HbA1c）>7.5% or Those who have received more than two oral hypoglycemic drugs or received insulin or GLP-1 receptor agonists therapies;
- Hypertensive patients with poor blood pressure control (defined as: systolic blood pressure ≥ 160 mmHg or diastolic blood pressure ≥100 mmHg when the subject is seated after receiving antihypertensive medication);
- Any uncontrollable clinical illness (such as severe psychiatric, respiratory and other systemic diseases and history of malignant tumors);
- Subjects with abnormal liver and kidney function: alanine aminotransferase (ALT)/aspartate aminotransferase (AST) ≥ 2 times the upper limit of normal; Total bilirubin ≥ 1.5 times the upper limit of normal, creatinine and urea/urea nitrogen ≥ 1.5 times the upper limit of normal;
- Subjects with abnormal coagulation function: prothrombin time (PT) > upper limit of normal value of 3 seconds or activated partial thromboplasting time (APTT) > upper limit of normal value of 10 seconds; Haemoglobin (HGb) < 10 g/dL;
- Those who are positive for hepatitis B surface antigen (HBsAg), hepatitis C virus (HCV) antibody, treponema pallidum antibody and human immunodeficiency virus (HIV) antibody;
- Those who are known to be allergic to the therapeutic drugs or diagnostic drugs used in the study protocol, including the investigational products, etc.;
- Those who have used anticoagulant or antiplatelet drugs within 7 days before dosing;
- Currently using or may need to use drugs that can cause crystalline toxicity or retinal toxicity (such as deferoxamine, chloroquine/hydroxychloroquine, tamoxifen, ethambutol, etc.);
- Those who have a history of surgical operation within 1 month before screening, and/or currently have unhealed wounds (wound degree> stage III), moderate to severe ulcers, and fractures;
- Subjects with systemic infectious diseases requiring systemic treatment (oral, intramuscular or intravenous) at the time of screening;
- Those who have received any AAV gene therapy products in the past;
- Pregnant or lactating females;
- Those who have participated in any clinical trial of drugs (excluding vitamins and minerals) within 3 months before screening;
- Other individuals who need to be excluded, as determined by the investigator
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Peking Union Medical College Hospital
Beijing, Beijing Municipality, 100730
Ruifang Sui, MD, PhD, +8613511017280, Hrfsui@163.com
Ruifang Sui, MD, PhD
About this study
Official title: An Open-Label, Single-Center, Dose-Escalation Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of Intravitreal Injection of PUMCH-E101 in Subjects with RDH12 Retinopathy
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy.
Read the detailed description
This is an open-label, single-center, dose-escalation study. One eye of each participant will receive a single intravitreal injection of PUMCH-E101. Participants will be followed for 52 weeks after which they will continue to be followed for up to 5 years after enrollment.
- Conditions
- Inherited Retinal Diseases
- Being tested
- PUMCH-E101 Injection（Low dose）, PUMCH-E101 Injection（High dose）
- Keywords
- Gene Therapy, Inherited Retinal Disease, RDH12 Mutations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PUMCH-E101 Injection（Low dose）Genetic
Single intravitreal injection
PUMCH-E101 Injection（High dose）Genetic
Single intravitreal injection
| Study group | Role | What they receive |
|---|---|---|
| PUMCH-E101 Treatment Arm（Low dose） | Experimental | Intraocular injection of a single low dose of PUMCH-E101 Receives: Genetic: PUMCH-E101 Injection（Low dose） |
| PUMCH-E101 Treatment Arm（High dose） | Experimental | Intraocular injection of a single high dose of PUMCH-E101 Receives: Genetic: PUMCH-E101 Injection（High dose） |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of DLTs
Number and proportion of dose limited toxicity (DLTs)
Measured: 4 weeks
Incidence of AEs
Number and severity of overall and ocular Adverse Events (AEs)
Measured: 52 weeks
Incidence of SAEs
Number and severity of overall and ocular Serious Adverse Events (SAEs)
Measured: 52 weeks
Secondary outcomes (3)
Visual function
Change from baseline in BCVA (Best Corrected Visual Acuity) (ETDRS)
Measured: 52 weeks
Visual function
Change from baseline in the mean value of the photosensitivity threshold (Full-field Threshold)
Measured: 52 weeks
Visual function
Change from baseline in mean sensitivity (MS) (Static visual field)
Measured: 52 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Dec 2024
- Study start20 Sep 2024
- Primary completion31 Dec 2027 (estimated)
- Study completion4 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Retinal DiseasesStudies of the same condition, open and under way.
- More trials run by Peking Union Medical College HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking Union Medical College Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ruifang Sui, MD, PhD, Principal investigator, Peking Union Medical College Hospital, Department of Ophthalmology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06749639
- Sponsor's protocol ID
- PUMCH-E101
- Status last verified
- Dec 2024
- First submitted
- 19 Dec 2024
- Last updated
- 31 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label, Single-Center, Dose-Escalation Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of Intravitreal Injection of PUMCH-E101 in Subjects with RDH12 Retinopathy
- ClinicalTrials.gov ID
- NCT06749639
- Acronym / sponsor ID
- PUMCH-E101
- Conditions
- Inherited Retinal Diseases
- Keywords
- Gene Therapy, Inherited Retinal Disease, RDH12 Mutations
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Peking Union Medical College HospitalUniversity, hospital or other
- Study start
- 20 Sep 2024 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 4 Jan 2030 (estimated)
- First posted
- 27 Dec 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy.
Detailed description
This is an open-label, single-center, dose-escalation study. One eye of each participant will receive a single intravitreal injection of PUMCH-E101. Participants will be followed for 52 weeks after which they will continue to be followed for up to 5 years after enrollment.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| PUMCH-E101 Treatment Arm（Low dose） | Experimental | Genetic: PUMCH-E101 Injection（Low dose）Intraocular injection of a single low dose of PUMCH-E101 |
| PUMCH-E101 Treatment Arm（High dose） | Experimental | Genetic: PUMCH-E101 Injection（High dose）Intraocular injection of a single high dose of PUMCH-E101 |
Who may qualify
- Ages
- 8 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- Subjects voluntarily participate and sign the informed consent form;
- Age between 8-45 years old, gender is not limited;
- Clinical diagnosis of IRD caused by RDH12 mutations;
- The Best Corrected Visual Acuity (BCVA) detected by the Early Treatment Diabetic Retinopathy Study (ETDRS) eye chart in the study eye is less than or equal to 63 letters, which is equivalent to 20/63 of the Snellen Eye Chart;
- At screening, the blood pregnancy test result of females of childbearing potential (e.g., females who have not undergone surgical sterilization or less than 1 year after menopause) is negative. Male and female subjects of childbearing potential agree to use effective contraception throughout the study and for at least 12 months after dosing.
Key exclusion criteria (23 listed)
- Opacity of refractive media or inability to dilate pupils in the study eye that significantly interferes with visual acuity detection, anterior segment or fundus assessment;
- Presence of diabetic retinopathy, retinal vein occlusion, pathological myopia, retinal detachment, or other conditions in the study eye that are assessed by the investigator as affecting the safety of the subject or the validity of the study;
- Any intraocular surgery in the study eye within 3 months prior to screening;
- Active intraocular or periocular infection (such as blepharitis, conjunctivitis, keratitis, scleritis, etc.) in the study eye;
- History of uveitis in either eye；
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PUMCH-E101 Injection（Low dose）Single intravitreal injection | Genetic | PUMCH-E101 Treatment Arm（Low dose） |
| PUMCH-E101 Injection（High dose）Single intravitreal injection | Genetic | PUMCH-E101 Treatment Arm（High dose） |
Primary outcome
Incidence of DLTs
Time frame: 4 weeks
Number and proportion of dose limited toxicity (DLTs)
Incidence of AEs
Time frame: 52 weeks
Number and severity of overall and ocular Adverse Events (AEs)
Incidence of SAEs
Time frame: 52 weeks
Number and severity of overall and ocular Serious Adverse Events (SAEs)
3 secondary outcomes
Visual function
Time frame: 52 weeks
Visual function
Time frame: 52 weeks
Visual function
Time frame: 52 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Dec 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ruifang Sui, MD, PhD principal investigator
Peking Union Medical College Hospital, Department of Ophthalmology
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing PUMCH-E101 Injection（Low dose） and PUMCH-E101 Injection（High dose） in people with Inherited Retinal Diseases, run by Peking Union Medical College Hospital at 1 site in China.
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 5 inclusion and 23 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: looking for participants now, as of the sponsor's last update on 31 Dec 2024. 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 China. 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 phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
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?
Contact Ruifang Sui, MD, PhD (+8613511017280, Hrfsui@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of DLTs (time frame: 4 weeks). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 31 Dec 2024.