Developmental Delay DisorderEarly Phase 1NCT06860672
Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
A Early Phase 1 study testing Dual vector DNA base editor in people with Developmental Delay Disorder and Intellectual Disability, run by Yongguo Yu at 1 site in China.
Trial summary
To evaluate the safety, tolerability and preliminary efficacy study of a single intrathecal injection of the dual vector AAV-CHD3-R1025W base editor for the treatment of developmental disorders caused by the R1025W mutation in the CHD3 gene Read more about this study
- Who is it for?
- Ages 2 to 10 years
- Conditions the study is for
- Developmental Delay Disorder, Intellectual Disability, Rare Diseases
- What is being tested?
- Dual vector DNA base editor
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteChina
- Study dates
- 19 Feb 2025to 31 Mar 2025
- Phase
- Early Phase 1
- Are there results?
- None posted in the registry
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 2 to 10 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Clinical diagnosis of Snijders Blok-Campeau syndrome
- Heterozygous mutation of c.3073C>T, p.(Arg1025Trp) in the CHD3 gene
- Normal liver, heart and immune function
- Normal coagulation and platelet counts
Who cannot join
- Brain tumor or intracranial space-occupying lesion
- Contraindications to administration of lumbar puncture or sheath injection administration
- Persistent status epilepticus or recurrent epileptic control instability
- Presence of unstable systemic disease including active bacterial, fungal or HIV, hepatitis A, hepatitis B infection
- Serum anti-AAV neutralizing antibody titer >1:50 (ELISA immunoassay)
- Treatment with immunological agents other than protocol-specified prophylaxis within 3 months
Show all 9Show fewer
- Prior gene therapy
- Participation in another clinical trial, or treatment with another investigational product within 30 days or 5 half-lives
- Known allergy to any investigational product
Trial locations and contacts
1 site in 1 country.
China1 site
Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Municipality, 200092
About this study
Official title: Safety, Tolerability and Preliminary Efficacy Study of a Single Intrathecal Injection of the Dual Vector AAV-CHD3-R1025W Base Editor for the Treatment of Developmental Disorders Caused by the R1025W Mutation in the CHD3 Gene
To evaluate the safety, tolerability and preliminary efficacy study of a single intrathecal injection of the dual vector AAV-CHD3-R1025W base editor for the treatment of developmental disorders caused by the R1025W mutation in the CHD3 gene
- Being tested
- Dual vector DNA base editor
- Medical subject headings
- Developmental Disabilities, Intellectual Disability, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Dual vector DNA base editorGenetic
The base editor is delivered using a dual vector adeno-associated virus (AAV) system and introduced into the child via intrathecal injection to correct the mutated CHD3 gene. The vital signs of the child will be closely monitored during treatment to assess possible acute adverse effects. The child will be followed up regularly after treatment to monitor the success of gene editing and the neurodevelopmental improvement of the child. Possible long-term adverse events will be closely monitored to assess the safety of the treatment.
| Study group | Role | What they receive |
|---|---|---|
| Dual vector treatment group | Experimental | Not described Receives: Genetic: Dual vector DNA base editor |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of drug-related serious adverse events
Measured: 0-26 weeks
Secondary outcomes (2)
Evaluate the changes using the Clinical Global impression Scale -Overall improvement (CGI-I)
This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Measured: 0-26 weeks
Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale
This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Measured: 0-26 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2025
- Study start19 Feb 2025
- Primary completion31 Mar 2025
- Study completion31 Mar 2025
Why it stopped: The single participant died on 31 March 2025 from thrombotic microangiopathy, a serious adverse event assessed as definitely related to the study drug. Planned follow-up was not completed, and the study was terminated.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Developmental Delay DisorderStudies of the same condition, open and under way.
- 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
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Yongguo Yu
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Yongguo Yu, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
- Investigators
- Yongguo Yu, Dr, MD, PhD, Principal investigator, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineZilong Qiu, PhD, Principal investigator, Shanghai Jiao Tong University School of Medicine Songjiang Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06860672
- Sponsor's protocol ID
- XH-25-002
- Status last verified
- Jul 2026
- First submitted
- 24 Feb 2025
- Last updated
- 30 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- 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 30 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Safety, Tolerability and Preliminary Efficacy Study of a Single Intrathecal Injection of the Dual Vector AAV-CHD3-R1025W Base Editor for the Treatment of Developmental Disorders Caused by the R1025W Mutation in the CHD3 Gene
- ClinicalTrials.gov ID
- NCT06860672
- Acronym / sponsor ID
- XH-25-002
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: The single participant died on 31 March 2025 from thrombotic microangiopathy, a serious adverse event assessed as definitely related to the study drug. Planned follow-up was not completed, and the study was terminated.
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Yongguo YuUniversity, hospital or other
- Study start
- 19 Feb 2025 (actual)
- Primary completion
- 31 Mar 2025 (actual)
- Study completion
- 31 Mar 2025 (actual)
- First posted
- 6 Mar 2025 (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.
To evaluate the safety, tolerability and preliminary efficacy study of a single intrathecal injection of the dual vector AAV-CHD3-R1025W base editor for the treatment of developmental disorders caused by the R1025W mutation in the CHD3 gene
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Dual vector treatment group | Experimental | Genetic: Dual vector DNA base editor |
Who may qualify
- Ages
- 2 to 10 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Clinical diagnosis of Snijders Blok-Campeau syndrome
- Heterozygous mutation of c.3073C>T, p.(Arg1025Trp) in the CHD3 gene
- Normal liver, heart and immune function
- Normal coagulation and platelet counts
Key exclusion criteria (9 listed)
- Brain tumor or intracranial space-occupying lesion
- Contraindications to administration of lumbar puncture or sheath injection administration
- Persistent status epilepticus or recurrent epileptic control instability
- Presence of unstable systemic disease including active bacterial, fungal or HIV, hepatitis A, hepatitis B infection
- Serum anti-AAV neutralizing antibody titer >1:50 (ELISA immunoassay)
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 |
|---|---|---|
| Dual vector DNA base editorThe base editor is delivered using a dual vector adeno-associated virus (AAV) system and introduced into the child via intrathecal injection to correct the mutated CHD3 gene. The vital signs of the child will be closely monitored during treatment to assess possible acute adverse effects. The child will be followed up regularly after treatment to monitor the success of gene editing and the neurodevelopmental improvement of the child. Possible long-term adverse events will be closely monitored to assess the safety of the treatment. | Genetic | Dual vector treatment group |
Primary outcome
Incidence of drug-related serious adverse events
Time frame: 0-26 weeks
2 secondary outcomes
Evaluate the changes using the Clinical Global impression Scale -Overall improvement (CGI-I)
Time frame: 0-26 weeks
Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale
Time frame: 0-26 weeks
Results and safety
The study was stopped early (reason given: The single participant died on 31 March 2025 from thrombotic microangiopathy, a serious adverse event assessed as definitely related to the study drug. Planned follow-up was not completed, and the study was terminated.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jul 2026.
- 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.
Yongguo Yu, Dr, MD, PhD principal investigator
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Zilong Qiu, PhD principal investigator
Shanghai Jiao Tong University School of Medicine Songjiang Research Institute
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 Dual vector DNA base editor in people with Developmental Delay Disorder and Intellectual Disability, run by Yongguo Yu 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 4 inclusion and 9 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: stopped early, as of the sponsor's last update on 30 Jul 2026. 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?
The study was stopped early (reason given: The single participant died on 31 March 2025 from thrombotic microangiopathy, a serious adverse event assessed as definitely related to the study drug. Planned follow-up was not completed, and the study was terminated.). Results are not available in the source record.
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?
Incidence of drug-related serious adverse events (time frame: 0-26 weeks). 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 30 Jul 2026.