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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Dual vector treatment group | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Dual vector DNA base editor | Genetic | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Incidence of drug-related serious adverse events | 0-26 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 0-26 weeks |
| Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Xiaomei Luo, Ms., Master | Contact | +86-25-25076466 | luoxiaomei@shsmu.edu.cn |
| Name | Affiliation | Role |
|---|---|---|
| Yongguo Yu, Dr, MD, PhD | Xinhua Hospital, Shanghai Jiao Tong University School of Medicine | Principal Investigator |
| Zilong Qiu, PhD | Shanghai Jiao Tong University School of Medicine Songjiang Research Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine | Recruiting | Shanghai | Shanghai Municipality | 200092 | China |
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| ID | Term |
|---|---|
| D002658 | Developmental Disabilities |
| D008607 | Intellectual Disability |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
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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. |
| 0-26 weeks |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |