Duchenne Muscular Dystrophy (DMD)Early Phase 1GEN6050XIITNCT06392724
A Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.
A Early Phase 1 study testing GEN6050X intravenous injection in people with Duchenne Muscular Dystrophy (DMD), run by Peking Union Medical College Hospital at 1 site in China.
Trial summary
The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping. Read more about this study
- Who is it for?
- Ages 4 to 10 years, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy (DMD)
- What is being tested?
- GEN6050X intravenous injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteChina
- Study dates
- 5 Jul 2024to Dec 2027
- 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 4 to 10 years
- Men only
- No healthy volunteers
- Child
Who may be able to join
- Subject age: 4-10 years old (including 10 years old)
- Gender: Male
- Patients with DMD gene exon deletion types confirmed by molecular diagnosis: 8-49, 20-49, 22-49, 51, 51-53, 51-55, 51-57, 51-59, 51-60, 51-67, 51-69, 51-75 or 51-78 and other mutations amenable to exon 50 skipping.
- The participant is able to walk independently and completes the 10-meter walk test without assistance.
- Participant is able to complete time to stand from supine independently in less than 30s.
- The participant is able to cooperate with motor assessment testing.
- Receipt of glucocorticoids for 6 months and a stable daily dose for at least 12 weeks prior to study entry
- Ability to tolerate muscle biopsies under anesthesia with no contraindications to these procedures.
Who cannot join
- Participants are in the active period of viral infection, including infections such as TORCH virus, Epstein-Barr(EB) virus, and severe acute respiratory syndrome coronavirus 2 (SARS-COV-2).
- Received a live attenuated vaccine within 3 months prior to receiving GEN6050X, or was exposed to an influenza (or other inactivated) vaccine within 30 days prior to receiving GEN6050X, or received systemic antiviral, anti-infective, and/or interferon therapy.
- Serological tests found HIV, Hepatitis B Virus(HBV), hepatitis C virus(HCV), and syphilis infection.
- Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks prior to receiving gene therapy.
- With clear symptoms of cardiomyopathy, echocardiography shows that the left ventricular ejection fraction is less than 40%.
- Need for continuous or intermittent assisted support from a ventilator.
Show all 14Show fewer
- Diagnosed with autoimmune disease or receiving related treatment for autoimmune disease.
- The following indicators are abnormal in laboratory biochemical testing:
- γ-glutamyl transpeptidase (GGT) above the 2-fold upper limit and total bilirubin above 1.5 times the upper limit, cystatin C (cystatin C) > 1.27 mg/L, hemoglobin (Hgb) < 100 or >200 g/L; Leukocytes (WBC) > 18.5×10^9/L or platelet ≤ 125×10^9/L.
- The titer of AAV9 neutralizing antibody determined by cell suppression assay > 1:50.
- Patients have received any gene therapy (e.g., adeno associated virus(AAV) gene therapy), cell therapy (e.g., stem cell transplantation), in vivo editing, or ex vivo editing therapy (e.g., CRISPR-Cas9, TALEN) in the past.
- Participant has any contraindication to immunosuppressive therapy.
- Has a medical condition or extenuating circumstance that, in the opinion of the principal investigator, is unsuitable for participation in the clinical trial.
- The family does not wish to disclose the patient's study participation to the attending physician and other medical providers.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Single-arm, Open-label, Single-center Study to Evaluate the Safety and Tolerability of Intravenous GEN6050X Gene Therapy in Ambulatory Boys With Duchenne Muscular Dystrophy (DMD).
The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.
Read the detailed description
GEN6050X is an intravenously administered human DMD exon 50 skipping base editing drug containing dual single-stranded adeno-associated virus serotype 9 (ss.AAV9) vectors.
The study is a first-in-human, single-arm, open-label, single-center clinical trial to evaluate safety and tolerability of a single intravenous infusion of GEN6050X in ambulatory boys with DMD. Other objectives include pharmacokinetics, pharmacodynamics, and the preliminary clinical efficacy of GEN6050X over 52 weeks. A total of three ambulatory pediatric participants (aged 4 to 9 years old) are expected to enroll, each receiving a dose of 5×10^13 vg/kg. These participants will be dosed in a staggered fashion.
Safety assessments will include monitoring of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), vital signs, and physical examinations throughout the study duration. In addition, a comprehensive short-term prophylactic immunosuppression regimen(including rituximab and sirolimus) will be administered prior to treatment in order to mitigate potential immune response.
- Conditions
- Duchenne Muscular Dystrophy (DMD)
- Being tested
- GEN6050X intravenous injection
- Keywords
- Duchenne Muscular Dystrophy, DMD, Gene therapy, Gene editing, Muscular dystrophies, Hereditary neuromuscular disorders
- Medical subject headings
- Muscular Dystrophy, Duchenne, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GEN6050X intravenous injectionGenetic
GEN6050X is an intravenously administered human DMD exon 50 skipping base editing drug.
| Study group | Role | What they receive |
|---|---|---|
| GEN6050X | Experimental | * A single IV infusion of GEN6050X at a dose of 5×10^13 vector genome(VG)/kg body weight
* Interventions:
* Genetic: GEN6050X Receives: Genetic: GEN6050X intravenous injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety and tolerability of GEN6050X measured by incidence of adverse events (AEs).
Incidence of dose-limiting safety or intolerability, as measured by treatment-related adverse events according to Common Terminology Criteria for Adverse Events (CTCAE) V5.0.
Measured: through 1 year post-treatment
Secondary outcomes (10)
Physical Therapy Assessment North Star Ambulatory Assessment (NSAA）
The NSAA measures the quality of ambulation in young boys with Duchenne Muscular Dystrophy.
Measured: Screening, 6 months-3 Years
Physical Therapy Assessment Time to run/walk 10 meters(TTRW)
Change in Time to Run/Walk 10 Meters Test (TTRW)
Measured: Screening, 6 months-3 Years
Physical Therapy Assessment 6MWT
Change in Six-minutes Walk Test (6MWT)
Measured: Screening, 6 months-3 Years
Physical Therapy Assessments Change in Time to Stand (TTSTAND)
Change in Time to Stand (TTSTAND)
Measured: Screening, 6 months-3 Years
Physical Therapy Assessments Ascend and Descend of 4 steps
Change in Time to Climb 4 Steps Test
Measured: Screening, 6 months-3 Years
Physical Therapy Assessments Hand-held dynamometer
The force generated for each muscle strength (elbow extension, elbow flexion, knee extension, and knee flexion on the dominant side only) will be measured by Hand-held dynamometer.
Measured: Screening, 6 months-3 Years
Physical Therapy Assessments upper limb function
Change score in Performance of Upper Limb (PUL) 2.0
Measured: Screening, 6 months-3 Years
Physical Therapy Assessments Pulmonary function
Change in pulmonary function test
Measured: Screening, 6 months-3 Years
Dystrophin protein expression
Dystrophin protein recovery level in muscle biopsy.
Measured: 24 weeks post-treatment
Serum creatine kinase(CK)
Decrease in CK levels in circulating blood
Measured: through 1 year post-treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2024
- Study start5 Jul 2024
- Primary completionDec 2025 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Duchenne Muscular Dystrophy (DMD)Studies 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
- Not applicable
- Intervention model
- Single group
- Model description
- Single-arm unblinded, single-center study
- Masking
- None (open label)
- Enrolment
- 3 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking Union Medical College Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Yi Dai, Peking Union Medical College Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06392724
- Sponsor's protocol ID
- GATx-01-IIT-CLINC
- Acronym
- GEN6050XIIT
- Status last verified
- Jul 2024
- First submitted
- 26 Apr 2024
- Last updated
- 29 Jul 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Yuan J, Ma Y, Huang T, Chen Y, Peng Y, Li B, Li J, Zhang Y, Song B, Sun X, Ding Q, Song Y, Chang X. Genetic Modulation of RNA Splicing with a CRISPR-Guided Cytidine Deaminase. Mol Cell. 2018 Oct 18;72(2):380-394.e7. doi: 10.1016/j.molcel.2018.09.002. Epub 2018 Oct 4.
PubMed 30293782
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single-arm, Open-label, Single-center Study to Evaluate the Safety and Tolerability of Intravenous GEN6050X Gene Therapy in Ambulatory Boys With Duchenne Muscular Dystrophy (DMD).
- ClinicalTrials.gov ID
- NCT06392724
- Acronym / sponsor ID
- GEN6050XIIT / GATx-01-IIT-CLINC
- Conditions
- Duchenne Muscular Dystrophy (DMD)
- Keywords
- Duchenne Muscular Dystrophy, DMD, Gene therapy, Gene editing, Muscular dystrophies, Hereditary neuromuscular disorders
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 3 participants (estimated)
- Lead sponsor
- Peking Union Medical College HospitalUniversity, hospital or other
- Study start
- 5 Jul 2024 (actual)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 30 Apr 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 study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.
Detailed description
GEN6050X is an intravenously administered human DMD exon 50 skipping base editing drug containing dual single-stranded adeno-associated virus serotype 9 (ss.AAV9) vectors.
The study is a first-in-human, single-arm, open-label, single-center clinical trial to evaluate safety and tolerability of a single intravenous infusion of GEN6050X in ambulatory boys with DMD. Other objectives include pharmacokinetics, pharmacodynamics, and the preliminary clinical efficacy of GEN6050X over 52 weeks. A total of three ambulatory pediatric participants (aged 4 to 9 years old) are expected to enroll, each receiving a dose of 5×10^13 vg/kg. These participants will be dosed in a staggered fashion.
Safety assessments will include monitoring of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), vital signs, and physical examinations throughout the study duration. In addition, a comprehensive short-term prophylactic immunosuppression regimen(including rituximab and sirolimus) will be administered prior to treatment in order to mitigate potential immune response.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single-arm unblinded, single-center study
| Arm | Type | Receives |
|---|---|---|
| GEN6050X | Experimental | Genetic: GEN6050X intravenous injection* A single IV infusion of GEN6050X at a dose of 5×10^13 vector genome(VG)/kg body weight * Interventions: * Genetic: GEN6050X |
Who may qualify
- Ages
- 4 to 10 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (8 listed)
- Subject age: 4-10 years old (including 10 years old)
- Gender: Male
- Patients with DMD gene exon deletion types confirmed by molecular diagnosis: 8-49, 20-49, 22-49, 51, 51-53, 51-55, 51-57, 51-59, 51-60, 51-67, 51-69, 51-75 or 51-78 and other mutations amenable to exon 50 skipping.
- The participant is able to walk independently and completes the 10-meter walk test without assistance.
- Participant is able to complete time to stand from supine independently in less than 30s.
Key exclusion criteria (14 listed)
- Participants are in the active period of viral infection, including infections such as TORCH virus, Epstein-Barr(EB) virus, and severe acute respiratory syndrome coronavirus 2 (SARS-COV-2).
- Received a live attenuated vaccine within 3 months prior to receiving GEN6050X, or was exposed to an influenza (or other inactivated) vaccine within 30 days prior to receiving GEN6050X, or received systemic antiviral, anti-infective, and/or interferon therapy.
- Serological tests found HIV, Hepatitis B Virus(HBV), hepatitis C virus(HCV), and syphilis infection.
- Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks prior to receiving gene therapy.
- With clear symptoms of cardiomyopathy, echocardiography shows that the left ventricular ejection fraction is less than 40%.
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 |
|---|---|---|
| GEN6050X intravenous injectionGEN6050X is an intravenously administered human DMD exon 50 skipping base editing drug. | Genetic | GEN6050X |
Primary outcome
Safety and tolerability of GEN6050X measured by incidence of adverse events (AEs).
Time frame: through 1 year post-treatment
Incidence of dose-limiting safety or intolerability, as measured by treatment-related adverse events according to Common Terminology Criteria for Adverse Events (CTCAE) V5.0.
10 secondary outcomes
Physical Therapy Assessment North Star Ambulatory Assessment (NSAA）
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessment Time to run/walk 10 meters(TTRW)
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessment 6MWT
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessments Change in Time to Stand (TTSTAND)
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessments Ascend and Descend of 4 steps
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessments Hand-held dynamometer
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessments upper limb function
Time frame: Screening, 6 months-3 Years
Physical Therapy Assessments Pulmonary function
Time frame: Screening, 6 months-3 Years
Dystrophin protein expression
Time frame: 24 weeks post-treatment
Serum creatine kinase(CK)
Time frame: through 1 year post-treatment
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 29 Jul 2025.
- Background: PubMed 30293782Yuan J, Ma Y, Huang T, Chen Y, Peng Y, Li B, Li J, Zhang Y, Song B, Sun X, Ding Q, Song Y, Chang X. Genetic Modulation of RNA Splicing with a CRISPR-Guided Cytidine Deaminase. Mol Cell. 2018 Oct 18;72(2):380-394.e7. doi: 10.1016/j.molcel.2018.09.002. Epub 2018 Oct 4.
- Yuan J. et al. Genetic Modulation of RNA Splicing with a CRISPR-Guided Cytidine Deaminase. Mol Cell. 2018 Oct 18;72(2):380-394.e7.Link provided by the sponsor.
- 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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 GEN6050X intravenous injection in people with Duchenne Muscular Dystrophy (DMD), 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 8 inclusion and 14 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 29 Jul 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 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?
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 of GEN6050X measured by incidence of adverse events (AEs). (time frame: through 1 year post-treatment). 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 NCT06392724, which also lists 1 linked publication.
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 29 Jul 2025.