Aicardi-Goutières Syndrome (AGS)Phase 2NCT05613868
TPN-101 in Aicardi-Goutières Syndrome (AGS)
A Phase 2 study testing TPN-101 in people with Aicardi-Goutières Syndrome (AGS), run by Transposon Therapeutics, Inc. at 5 sites in 3 countries.
Trial summary
A phase 2a multi-center, open-label single dose level study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS) Read more about this study
- Who is it for?
- Ages 12 months and older
- Conditions the study is for
- Aicardi-Goutières Syndrome (AGS)
- What is being tested?
- TPN-101
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 5 sitesin 3 countries
- Study dates
- 15 Mar 2023to 27 Feb 2025
- Phase
- Phase 2
- 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 12 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Male or female participants of the following ages:
- Cohort 1: Adults (≥ 18 years of age)
- Cohort 2: Adolescents (12 to 17 years of age)
- Cohort 3: Children 5 to 11 years of age
- Cohort 4: Children 1 to < 5 years of age and >= 10 kg in weight
- Molecular diagnosis of AGS due to biallelic mutations in 1 of the following 5 genes: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, or SAMHD1, or due to a recognized dominant mutation in TREX1
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- IFN score in peripheral blood > 2 standard deviations above the mean score of healthy controls measured on 3 occasions, approximately 2 weeks apart, during the 6-week Screening Period.
- Clinical syndrome consistent with AGS diagnosis based on clinical, CSF, and radiological findings. The following are examples of such findings (none of these are required for inclusion):
- Early onset encephalopathy with psychomotor delay, spasticity, extrapyramidal signs, and microcephaly, the latter appearing in the first year of life
- Calcifications particularly visible at basal ganglia level (putamen, pallidus, and thalamus), but also extending to the periventricular white matter
- Cerebral white matter abnormalities
- Cerebral atrophy
- Important systemic symptoms in the early stages of the disease including irritability, feeding and sleeping difficulties, unexplained fevers, and the appearance of chilblain-like skin lesions on the fingers, toes, and ears
- Has a reliable caregiver to accompany the patient to all study visits. Caregiver must have frequent contact with patient and be willing to monitor the patient's health and concomitant medications throughout the study
Who cannot join
- Mutation in IFIH1, ADAR1, LSM11, or RNU7-1.
- Pre-/perinatal infections, in particular the TORCH complex (toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus)
- Presence of other significant neurological disorders; brain tumor or other space-occupying lesion; history of severe head injury
- Clinically significant intercurrent illness, medical condition, physical or laboratory abnormality
- Autoimmune disease requiring treatment or management (quiescent rheumatoid arthritis, psoriasis, treated autoimmune thyroiditis, or controlled Type 1 diabetes are acceptable)
- History of human immunodeficiency virus (HIV), hepatitis B, or any active infection during Screening
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- History of cancer within 5 years of Screening, with the exception of fully treated non-melanoma skin cancers
- Receipt of an experimental agent within 30 days or 5 half-lives prior to Screening, whichever is longer
- Prior treatment with an immunomodulator other than a JAK inhibitor within 6 months of Screening; patients taking JAK inhibitors for AGS must have been on a stable dose for one month prior to Screening
- Current treatment with a nucleoside reverse transcriptase inhibitor (NRTI) or other antiviral drug
- Receipt of systemic corticosteroids within 30 days prior to Screening
- Any vaccination within 30 days prior to Screening
Trial locations and contacts
5 sites in 3 countries.
5 sites in 3 countries
Italy3 sites
Presidio Ospedale dei Bambini [Children's Hospital]
Brescia, 25123
SST Fatebenefratelli Sacco
Milan, 20154
Istituto Neurologico Casimiro Mondino
Pavia, 27100
France1 site
Laboratory of Neurogenetics and Neuroinflammation Imagine Institute - INSERM U1163
Paris, 75015
United Kingdom1 site
Royal Hospital for Children and Young People
Edinburgh, EH9 1LF
About this study
Official title: A Phase 2a Study of TPN-101 in Patients With Aicardi-Goutières Syndrome (AGS)
A phase 2a multi-center, open-label single dose level study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS)
Read the detailed description
The study is planned in pediatric and adult patients with AGS that are greater than 1 year and weigh at least 10 kg. The TPN-101 dose will be adjusted from 100 mg to 400 mg based on weight to achieve similar drug exposures in all subjects. The study plans to enroll 10 - 16 subjects. This study includes a 6-8 week Screening Period, a 48-week Open label Treatment Period, and a 12-week Follow-up Period.
- Conditions
- Aicardi-Goutières Syndrome (AGS)
- Being tested
- TPN-101
- Keywords
- AGS, TPN-101, censavudine
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TPN-101Drug
Also called censavudine
100 mg/ day up to 400mg/day of TPN-101
| Study group | Role | What they receive |
|---|---|---|
| Active, TPN-101 | Experimental | 100 mg/day to 400mg/ study investigational drug TPN-101 once daily for 48 weeks followed by 12 weeks of follow-up period. Receives: Drug: TPN-101 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in innate immune signaling
Assessed by the expression of 30 interferon-stimulated genes (ISG), used to calculate an Interferon (IFN) score in whole blood
Measured: 48 weeks
Incidence and severity of spontaneously reported treatment-emergent adverse events (TEAEs) of TPN-101
Incidence and severity of spontaneously reported treatment-emergent adverse events (TEAEs) of TPN-101 administered for up to 48 weeks in patients with AGS
Measured: 48 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Nov 2022
- Study start15 Mar 2023
- Primary completion27 Feb 2025
- Study completion27 Feb 2025
Why it stopped: Business decision
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Aicardi-Goutières Syndrome (AGS)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
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- open label, single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Transposon Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05613868
- Sponsor's protocol ID
- TPN-101-AGS-201
- Status last verified
- Apr 2026
- First submitted
- 7 Nov 2022
- Last updated
- 8 Apr 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 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2a Study of TPN-101 in Patients With Aicardi-Goutières Syndrome (AGS)
- ClinicalTrials.gov ID
- NCT05613868
- Acronym / sponsor ID
- TPN-101-AGS-201
- Conditions
- Aicardi-Goutières Syndrome (AGS)
- Keywords
- AGS, TPN-101, censavudine
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Business decision
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Transposon Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 15 Mar 2023 (actual)
- Primary completion
- 27 Feb 2025 (actual)
- Study completion
- 27 Feb 2025 (actual)
- First posted
- 14 Nov 2022 (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.
A phase 2a multi-center, open-label single dose level study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS)
Detailed description
The study is planned in pediatric and adult patients with AGS that are greater than 1 year and weigh at least 10 kg. The TPN-101 dose will be adjusted from 100 mg to 400 mg based on weight to achieve similar drug exposures in all subjects. The study plans to enroll 10 - 16 subjects. This study includes a 6-8 week Screening Period, a 48-week Open label Treatment Period, and a 12-week Follow-up Period.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- open label, single group
| Arm | Type | Receives |
|---|---|---|
| Active, TPN-101 | Experimental | Drug: TPN-101100 mg/day to 400mg/ study investigational drug TPN-101 once daily for 48 weeks followed by 12 weeks of follow-up period. |
Who may qualify
- Ages
- 12 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (14 listed)
- Male or female participants of the following ages:
- Molecular diagnosis of AGS due to biallelic mutations in 1 of the following 5 genes: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, or SAMHD1, or due to a recognized dominant mutation in TREX1
- IFN score in peripheral blood > 2 standard deviations above the mean score of healthy controls measured on 3 occasions, approximately 2 weeks apart, during the 6-week Screening Period.
- Clinical syndrome consistent with AGS diagnosis based on clinical, CSF, and radiological findings. The following are examples of such findings (none of these are required for inclusion):
- Has a reliable caregiver to accompany the patient to all study visits. Caregiver must have frequent contact with patient and be willing to monitor the patient's health and concomitant medications throughout the study
Key exclusion criteria (12 listed)
- Mutation in IFIH1, ADAR1, LSM11, or RNU7-1.
- Pre-/perinatal infections, in particular the TORCH complex (toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus)
- Presence of other significant neurological disorders; brain tumor or other space-occupying lesion; history of severe head injury
- Clinically significant intercurrent illness, medical condition, physical or laboratory abnormality
- Autoimmune disease requiring treatment or management (quiescent rheumatoid arthritis, psoriasis, treated autoimmune thyroiditis, or controlled Type 1 diabetes are acceptable)
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 |
|---|---|---|
| TPN-101Also: censavudine100 mg/ day up to 400mg/day of TPN-101 | Drug | Active, TPN-101 |
Primary outcome
Change in innate immune signaling
Time frame: 48 weeks
Assessed by the expression of 30 interferon-stimulated genes (ISG), used to calculate an Interferon (IFN) score in whole blood
Incidence and severity of spontaneously reported treatment-emergent adverse events (TEAEs) of TPN-101
Time frame: 48 weeks
Incidence and severity of spontaneously reported treatment-emergent adverse events (TEAEs) of TPN-101 administered for up to 48 weeks in patients with AGS
Results and safety
The study was stopped early (reason given: Business decision). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
- Individual participant dataSharing planned: No
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.
5 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing TPN-101 in people with Aicardi-Goutières Syndrome (AGS), run by Transposon Therapeutics, Inc. at 5 sites in 3 countries.
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 14 inclusion and 12 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 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in Italy, France, United Kingdom. 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?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
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: Business decision). 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?
Change in innate immune signaling (time frame: 48 weeks). The study lists 2 primary outcomes in all. 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 8 Apr 2026.