Dravet Syndrome (DS)Early Phase 1NCT07675746
A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome
A Early Phase 1 study testing RC001 injection-Dose Escalation Cohort and RC001 injection-Fixed Dose Cohort in people with Dravet Syndrome (DS), run by Second Affiliated Hospital of Guangzhou Medical University at 1 site in China.
Trial summary
This is an open-label, single-center study to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of intrathecal RC001 in patients with Dravet syndrome aged 2 to 18 years. Read more about this study
- Who is it for?
- Ages 2 to 18 years
- Conditions the study is for
- Dravet Syndrome (DS)
- What is being tested?
- RC001 injection-Dose Escalation Cohort and RC001 injection-Fixed Dose Cohort
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteChina
- Study dates
- 22 Dec 2025to 31 Dec 2027
- Phase
- Early Phase 1
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 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Patients aged 2-18 years with Dravet syndrome caused by SCN1A mutations, with onset before 12 months of age characterized by focal seizures, hemiclonic seizures, generalized tonic-clonic seizures, or myoclonic seizures, and with MRI excluding progressive neurological disease either historically or at screening. Enrolled participants will be assigned as follows: 1 participant aged 13-18 years, 1 aged 7-12 years, and 1 aged 2-6 years will undergo intra-subject dose escalation; 5 participants aged 2-12 years will receive fixed-dose multiple administrations.
- Seizure frequency requirements: at least 6 cumulative seizures within 12 weeks prior to the day of signing the ICF, and at least 2 seizures within 4 weeks prior to ICF signing. For participants in Stage 2 (fixed-dose multiple administration), seizure frequency must also be ≥4 within 4 weeks after ICF signing.
- Documented pathogenic or likely pathogenic variants in the SCN1A gene associated with Dravet syndrome.
- Prior treatment with at least one anti-epileptic intervention, including anti-seizure medications (ASM), ketogenic diet, or vagus nerve stimulation (VNS), with inadequate seizure control or discontinuation due to adverse events (AEs).
- Use of at least one ASM prior to screening, with a stable dose for at least 4 weeks before screening.
- All epilepsy-related treatments, including ASM and other interventions (ketogenic diet and VNS), must be stable for at least 4 weeks prior to screening and are expected to remain stable throughout the study (medications adjusted by body weight are allowed).
- Willingness to participate and provision of written informed consent.
Who cannot join
- Presence of other known pathogenic gene mutations causing Dravet syndrome, or SCN1A gain-of-function mutations reported in the literature and/or experimentally validated, including but not limited to: Ala23Glu, Thr162Ile, Thr226Met, Ser228Pro, Val229Leu, Ile236Val, Ile236Thr, Val250Leu, Leu263Val, Thr398Met, Ala420Val, Val422Leu, Ile883Thr, Leu893Phe, Ala989Thr, Thr1174Ser, Trp1204Arg, Ala1339Asp, Pro1345Ser, Pro1345Leu, Ser1346Pro, Ile1347Val, Val1481Ile, Ile1483Met, Gln1489Lys, Ile1498Thr, Ile1498Met, Phe1499Leu, Met1500Val, Arg1575Cys, Val1611Phe, Leu1624Pro, Arg1636Gln, Arg1648Cys, Leu1649Gln, Leu1660Ile, Phe1661Leu, Ala1669Glu, Leu1670Trp, Gly1674Arg, Phe1774Ser, Asp1866Tyr.
- Current maintenance treatment with anti-epileptic drugs primarily acting as sodium channel blockers, including but not limited to carbamazepine, oxcarbazepine, lamotrigine, lacosamide, or rufinamide.
- Ongoing neuromodulation therapy (e.g., responsive neurostimulation or deep brain stimulation), excluding vagus nerve stimulation (VNS).
- Receipt of gene therapy or cell therapy within 1 year prior to screening.
- Receipt of any vaccination within 12 weeks prior to screening.
- Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) >2× the upper limit of normal (ULN), or total bilirubin >1.5× ULN; renal insufficiency or serum creatinine >1.2× ULN.
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- Presence of any severe uncontrolled disease other than Dravet syndrome.
- History of autoimmune disease, or uncontrolled infectious disease within 1 week prior to screening.
- History of brain or spinal cord disease (other than epilepsy, Dravet syndrome, or trauma), or history of bacterial meningitis.
- Spinal deformity or other conditions that may interfere with normal cerebrospinal fluid (CSF) flow, or implantation of a CSF shunt.
- Pregnant or breastfeeding females.
- Any other significant disease or condition that, in the investigator's judgment, may pose a risk to the patient, interfere with study results, or affect the patient's ability to participate in the study.
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
The Second Affiliated Hospital of Guangzhou Medical University
Guangzhou, Guangdong, 510120
Juan Chen, 086-020-34153599, gyeylcyjzx@163.com
About this study
Official title: An Investigator-Initiated Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of RC001 in Patients With Dravet Syndrome Aged 2 to 18 Years
This is an open-label, single-center study to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of intrathecal RC001 in patients with Dravet syndrome aged 2 to 18 years. The study includes a dose-escalation part followed by a fixed dose treatment part, with participant progression based on investigator-assessed safety and efficacy.
Read the detailed description
This is an open-label, single-center clinical study designed to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of RC001 administered intrathecally in patients aged 2 to 18 years with Dravet syndrome. The study consists of two stages: Stage 1 (intra-subject dose escalation) and Stage 2 (fixed-dose multiple dosing). In Stage 1, three cohorts will be enrolled with a total of three participants. In Stage 2, a total of five participants will be enrolled to receive fixed-dose multiple administrations. Participants in both the dose-escalation stage and the fixed-dose multiple dosing stage may enter an extension phase after completion of the last dose, based on the investigator's assessment of efficacy and safety.
- Conditions
- Dravet Syndrome (DS)
- Being tested
- RC001 injection-Dose Escalation Cohort, RC001 injection-Fixed Dose Cohort
- Keywords
- Dravet syndrome, Developmental and epileptic encephalopathy, RC001, Oligonucleotide drugs, ADAR RNA editing, SCN1A gene
- Medical subject headings
- Epilepsies, Myoclonic, Generalized Epilepsy With Febrile Seizures Plus, Type 2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RC001 injection-Dose Escalation CohortDrug
RC001 will be administered using a sequential dose-escalation scheme. Participants will receive ascending dose levels of RC001 according to the study protocol. Dose escalation will proceed only after safety data from prior participants have been reviewed and deemed acceptable. This intervention is intended to evaluate safety, tolerability, and preliminary pharmacodynamic effects at increasing dose levels.
RC001 injection-Fixed Dose CohortDrug
RC001 will be administered at a predefined fixed dose level selected based on safety, tolerability, and pharmacological data obtained from the dose-escalation cohort. This intervention is intended to further evaluate safety and preliminary efficacy at the selected dose level in a fixed-dose setting.
| Study group | Role | What they receive |
|---|---|---|
| Dose Escalation Cohort | Experimental | Participants will receive RC001 in a dose-escalation manner to evaluate the safety, tolerability, and preliminary pharmacodynamic effects. Dose levels will be administered sequentially, and escalation decisions will be based on safety data from previously treated participants. This cohort includes 3 participants. Receives: Drug: RC001 injection-Dose Escalation Cohort |
| Fixed Dose Cohort | Experimental | Participants will receive a predefined fixed dose of RC001 selected based on safety, tolerability, and pharmacological data obtained from the dose-escalation cohort. This cohort is designed to further evaluate safety and preliminary efficacy at the selected dose level. This cohort includes 5 participants. Receives: Drug: RC001 injection-Fixed Dose Cohort |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
A treatment-emergent adverse event is defined as any adverse event that occurs or worsens after the first dose of RC001 through the end of follow-up. TEAEs will be summarized by system organ class, preferred term, severity, seriousness, and relationship to study drug or study procedure.
Measured: From first dose to 24 weeks after the last dose
Number of Participants With Serious Adverse Events (SAEs)
Serious adverse events will be collected and summarized throughout the study.
Measured: From signing informed consent to 24 weeks after the last dose
Number of Participants With Clinically Significant Abnormalities in Vital Signs
Vital signs include body temperature, heart rate, respiratory rate, systolic blood pressure, and diastolic blood pressure. Clinically significant abnormalities will be determined by the investigator.
Measured: From baseline to 24 weeks after the last dose
Number of Participants With Clinically Significant Abnormal Physical Examination Findings
Physical examination findings will be assessed for clinically significant abnormalities as determined by the investigator.
Measured: From baseline to 24 weeks after the last dose
Number of Participants With Clinically Significant Abnormal Laboratory Test Results
Laboratory assessments may include hematology, serum chemistry, coagulation, urinalysis, and cerebrospinal fluid laboratory tests, as applicable. Clinically significant abnormalities will be determined by the investigator.
Measured: From baseline to 24 weeks after the last dose
Number of Participants With Clinically Significant Abnormal 12-Lead Electrocardiogram (ECG) Findings
ECG parameters may include heart rate, PR interval, QRS duration, QT interval, and corrected QT interval. Clinically significant abnormalities will be determined by the investigator.
Measured: From baseline to 24 weeks after the last dose
Secondary outcomes (10)
Maximum Observed Plasma Concentration (Cmax) of RC001
Cmax of RC001 in plasma following intrathecal administration.
Measured: From first dose to last dose up to 12 weeks
Time to Maximum Observed Plasma Concentration (Tmax) of RC001
Tmax of RC001 in plasma following intrathecal administration.
Measured: From first dose through 12 weeks
Trough Concentration (Ctrough) of RC001 in Cerebrospinal Fluid
Trough concentration of RC001 in cerebrospinal fluid before each intrathecal dose.
Measured: Prior to each dose through 12 weeks
Percentage Change From Baseline in Countable Seizure Frequency at 12 Weeks After the Last Dose
Countable seizure frequency will be calculated as the number of countable seizures during the 28-day period preceding 12 weeks after the last dose of RC001.Baseline countable seizure frequency is defined as the number of countable seizures during baseline observation period. Percentage change from baseline will be calculated as: (post-baseline 28-day seizure frequency - baseline 28-day seizure frequency) / baseline 28-day seizure frequency x 100%.
Measured: Baseline and the 28-day period preceding 12 weeks after the last dose
Percentage Change From Baseline in Countable Seizure Frequency at 24 Weeks After the Last Dose
Countable seizure frequency will be calculated as the number of countable seizures during the 28-day period preceding 24 weeks after the last dose of RC001. Baseline countable seizure frequency is defined as the number of countable seizures during baseline observation period. Percentage change from baseline will be calculated as: (post-baseline 28-day seizure frequency - baseline 28-day seizure frequency) / baseline 28-day seizure frequency x 100%.
Measured: Baseline and the 28-day period preceding 24 weeks after the last dose
Clinical Global Impression of Change (CGI-C) Score at 24 Weeks After the Last Dose
The Clinical Global Impression of Change (CGI-C) is a clinician-rated 7-point scale assessing overall clinical change relative to baseline. Scores range from 1 to 7: 1 = very much improved, 2 = much improved, 3 = minimally improved, 4 = no change, 5 = minimally worse, 6 = much worse, and 7 = very much worse. Lower scores indicate greater improvement.
Measured: 24 weeks after the last dose
Caregiver Global Impression of Change (CaGI-C) Score at 24 Weeks After the Last Dose
The Caregiver Global Impression of Change (CaGI-C) is a caregiver-rated 7-point scale assessing overall clinical change relative to baseline. Scores range from 1 to 7: 1 = very much improved, 2 = much improved, 3 = minimally improved, 4 = no change, 5 = minimally worse, 6 = much worse, and 7 = very much worse. Lower scores indicate greater improvement.
Measured: 24 weeks after the last dose
Change From Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Expressive Communication Raw Score at 24 Weeks After the Last Dose
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) measures adaptive behavior. The Expressive Communication subdomain raw score will be assessed. Raw scores have a minimum value of 0, and the maximum value varies by subdomain according to the Vineland-3 scoring manual. Higher scores indicate better adaptive functioning.
Measured: Baseline and 24 weeks after the last dose
Change From Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Receptive Communication Raw Score at 24 Weeks After the Last Dose
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) measures adaptive behavior. The Receptive Communication subdomain raw score will be assessed. Raw scores have a minimum value of 0, and the maximum value varies by subdomain according to the Vineland-3 scoring manual. Higher scores indicate better adaptive functioning.
Measured: Baseline and 24 weeks after the last dose
Change From Baseline in Age-Appropriate Wechsler Intelligence Scale Score at 24 Weeks After the Last Dose
Cognitive function will be assessed using an age-appropriate Wechsler intelligence scale. The selected composite or total score will be analyzed as the change from baseline. Higher scores indicate better cognitive functioning. The applicable scale version and score range will be defined according to the participant's age and the study assessment manual.
Measured: Baseline and 24 weeks after the last dose
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jun 2026
- Study start22 Dec 2025
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dravet Syndrome (DS)Studies 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
- Non-randomised
- Intervention model
- Single group
- Model description
- Two-part sequential design (Dose escalation followed by fixed dose treatment)
- Masking
- None (open label)
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Second Affiliated Hospital of Guangzhou Medical University
- Sponsor type
- University, hospital or other
- Collaborators
- RecoRNA(Guangzhou) Biotechnology Co., Ltd
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07675746
- Sponsor's protocol ID
- 2025-LCYJ-187
- Status last verified
- Dec 2025
- First submitted
- 16 Jun 2026
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Individual participant data (IPD) from this early-phase study will not be shared due to the sensitive nature of patient data and the need to protect participant privacy.