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Tianasen (ASO-GNAO1) for GNAO1-Encephalopathy With Epilepsy and Movement Disorders.

ConditionsGNAO1EpilepsyHyperkinesis
Trial statusRecruiting
Trial phasePhase 1, Phase 2
Trial typeInterventional
Biological sexAll
Age1-14
SponsorPirogov Russian National Research Medical University

About this trial

The goal of this clinical trial is to evaluate the efficacy and safety of the investigational drug ASO-GNAO1 (Tianasen) in pediatric patients with c.607G\>A mutation in the GNAO1 gene associated with epilepsy and neurodevelopmental disorder. The main questions it aims to answer are:

1. Does intrathecal administration of ASO-GNAO1 slow or halt the progression of motor and cognitive symptoms? 2. Is ASO-GNAO1 safe and well-tolerated in this patient population? 3. What is the appropriate therapeutic dose?

This is an open-label study without a placebo control group due to the rare and severe nature of the disease. All participants will receive the active drug.

Participants will:

Receive escalating doses of ASO-GNAO1 via intrathecal injection over a 12-month period.

Undergo frequent neurological assessments, biomarker testing, and safety monitoring.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Informed Consent: Written informed consent from the parent(s) or legal guardian(s) of the patient and the child's assent (where applicable based on age and cognitive ability), obtained prior to the initiation of any study-related procedures.

Age: Male or female children aged 1 year and older (≥1 year) until 14 years at the time of informed consent signing.

Diagnosis: A confirmed a c.607G>A variant in of GNAO1 gene based on genetic testing, and a clinical presentation that includes both epilepsy and movement disorders.

For seizures: Documented resistance to antiseizure medications prior to screening, defined as the persistence of seizures despite adequate trials of at least two appropriately dosed antiseizure medications.

Disqualifiers

Unacceptable Risk: Any concurrent severe medical, neurological, or psychiatric condition, or any other significant circumstance (e.g., unstable clinical status) that, in the judgment of the Investigator, could significantly increase the risk associated with study participation or the administration of the investigational product, or could interfere with the interpretation of study results.

Impossibility of Intervention: Any anatomical abnormality, coagulation disorder, active infection, or other condition that constitutes a contraindication to or precludes the safe performance of repeated lumbar punctures for intrathecal administration of the study drug.

Pregnancy or Lactation: Pregnancy, lactation, or intention to become pregnant during the study period.

Concurrent Experimental Therapy: Receipt of any other investigational drug, device, or biological product within 1 month prior to screening or within a period of at least 5 half-lives of that product (whichever is longer).

Trial design

Design model

Single group

Treatments tested in this trial

  • Antisense oligonucleotide treatment (ASO)

    Biological/Vaccine

    Intrathecal escalating doses from 0.3 mg/kg to 1.5 mg/kg (single administration per dose level)

Treatment groups

5 Participants
are divided into 1 treatment group
Group A: GNAO1 c.607G>A carriersExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

Change in monthly seizure frequency

Change from Baseline in the number of seizure episodes per month. Unit of Measure: seizures per month

Time frame
Baseline to Week 50
2

Change in total monthly duration of seizures

Change from Baseline in the total duration of seizure episodes per month. Unit of Measure: minutes per month

Time frame
Baseline to Week 50
3

Change in frequency of non-epileptic hyperkinetic and dystonic episodes

Change in frequency of non-epileptic hyperkinetic and dystonic episodes Unit: episodes per month

Time frame
Baseline to Week 50
4

Change in duration of non-epileptic hyperkinetic and dystonic episodes

Change in duration of non-epileptic hyperkinetic and dystonic episodes Unit: minutes per month

Time frame
Baseline to Week 50

Secondary outcomes

1

Change in epileptiform activity index on EEG

Change from Baseline in the quantitative EEG epileptiform activity index. Unit of Measure: percentage of recording time with epileptiform activity Range of Measure: 0-100%, higher value = worse

Time frame
Baseline, Week 46
2

Change in Barry-Albright Dystonia Scale score

Change in Barry-Albright Dystonia Scale score Unit: score (0-160), higher scores indicate worse dystonia

Time frame
Baseline, Week 46
3

Change in concomitant medication dosages

Change in total daily medication dose Unit: mg/kg/day

Time frame
Baseline, Week 46
4

Change in Gross Motor Function Measure-88 total score

Change in Gross Motor Function Measure-88 total score Unit: score (0-100), higher scores indicate better function

Time frame
Baseline, Week 46

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Pirogov Russian National Research Medical University

Lead sponsor

Source ClinicalTrials.gov
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