Trial · NCT06898372
Evaluate the Efficacy of Anti-Jak1 Inhibitors as Treatment for Patients With Aicardi-Goutières Syndrome
NCT06898372, Completed, IRCCS Fondazione Stella Maris
3 sourcestrials-2026-11-12-0.5.0
Cite this record
ConductScience Library. Evaluate the Efficacy of Anti-Jak1 Inhibitors as Treatment for Patients With Aicardi-Goutières Syndrome. Trials, record NCT06898372. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT06898372
On this page
Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- Evaluate the Efficacy of Anti-Jak1 Inhibitors as Treatment for Patients With Aicardi-Goutières Syndrome
- NCT number
- NCT06898372
- Status
- Completed
- Enrollment
- 24 participants, actual
- Lead sponsor
- IRCCS Fondazione Stella Maris
- Conditions
- Aicardi-Goutières Syndrome (AGS)
- Interventions
- JAK Inhibitor
- First posted
- 2025-03-27
- Last updated
- 2025-03-27
Source ClinicalTrials.gov
Registered outcomes10
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Efficacy of JAK-1/2 inhibitor therapy on Clinical criteria (AGS scale) | After 6, 12, 18, and 24 months of treatment, if the data is available. | Evaluate the efficacy of JAK-1/2 inhibitor therapy through clinical criteria (AGS scale) in all patients with Aicardi-Goutières Syndrome or AGS-related interferonopathies, highlighting potential differences in efficacy between the different genotypes. The Aicardi-Goutières Syndrome (AGS) Severity Scale is a clinical tool used to assess the severity of neurological impairment in individuals with AGS. The scale ranges from 0 to 11, with higher scores indicating better neurological function. |
| Primary | Efficacy of JAK-1/2 inhibitor therapy on laboratory parameter (IFN signature) | After 6, 12, 18, and 24 months of treatment, if the data is available. | Evaluate the efficacy of JAK-1/2 inhibitor therapy through IFN signature (IFN score) on blood in all patients with Aicardi-Goutières Syndrome or AGS-related interferonopathies, highlighting potential differences in efficacy between the different genotypes. The IFN Score is typically expressed as a fold change relative to healthy controls or as a normalized relative value, measuring the expression of interferon-stimulated genes (ISGs). In patients with pathological activation of the interferon pathway, the IFN Score ranges from 0 to \>10-15, indicating significant ISG upregulation. While the pathological cut-off varies across studies, an IFN Score \>2-3 is often considered indicative of abnormal interferon pathway activation. |
| Primary | Efficacy of JAK-1/2 inhibitor therapy on instrumental parameters (brain MRI) | After 6, 12, 18, and 24 months of treatment, if the data is available. | Evaluate the efficacy of JAK-1/2 inhibitor therapy through brain MRI (Improved/Unchanged/Worsening) in all patients with Aicardi-Goutières Syndrome or AGS-related interferonopathies, highlighting potential differences in efficacy between the different genotypes. |
| Primary | Evaluate the side effects of JAK-1/2 inhibitor | After 6, 12, 18, and 24 months of treatment, if the data is available. | Evaluate the side effects of JAK-1/2 inhibitor therapy in patients with Aicardi-Goutières Syndrome or AGS-related interferonopathies. |
| Secondary | Consensus on indication of JAK-1/2 Inhibitor Therapy for Aicardi-Goutières Syndrome and Related Interferonopathies on Clinical criteria (AGS scale) | Until study completion, an average of 2 year. | Develop a possible consensus within the AGS Italia network on AGS scale criteria that define the indication for starting JAK-1/2 inhibitor therapy in Aicardi-Goutières Syndrome or AGS-related interferonopathies. The Aicardi-Goutières Syndrome (AGS) Severity Scale is a clinical tool used to assess the severity of neurological impairment in individuals with AGS. The scale ranges from 0 to 11, with higher scores indicating better neurological function. |
| Secondary | Consensus on indication of JAK-1/2 Inhibitor Therapy for Aicardi-Goutières Syndrome and Related Interferonopathies on genetic criteria (type of Genetic mutation) | Until study completion, an average of 2 year. | Develop a possible consensus within the AGS Italia network on Genetic mutation that define the indication for starting JAK-1/2 inhibitor therapy in Aicardi-Goutières Syndrome or AGS-related interferonopathies. At now nine causative genes for Aicardi-Goutières Syndrome (AGS) are known: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11, and RNU7-1, all involved in nucleic acid metabolism and the interferon pathway. |
| Secondary | Consensus on indication of JAK-1/2 Inhibitor Therapy for Aicardi-Goutières Syndrome and Related Interferonopathies on laboratory parameter (IFN signature) | Until study completion, an average of 2 year. | Develop a possible consensus within the AGS Italia network on laboratory parameter (IFN signature) that define the indication for starting JAK-1/2 inhibitor therapy in Aicardi-Goutières Syndrome or AGS-related interferonopathies. The IFN Score is typically expressed as a fold change relative to healthy controls or as a normalized relative value, measuring the expression of interferon-stimulated genes (ISGs). In patients with pathological activation of the interferon pathway, the IFN Score ranges from 0 to \>10-15, indicating significant ISG upregulation. While the pathological cut-off varies across studies, an IFN Score \>2-3 is often considered indicative of abnormal interferon pathway activation. |
| Secondary | Consensus on Monitoring laboratory parameter (IFN signature) for JAK-1/2 Inhibitor Therapy in Aicardi-Goutières Syndrome and Related Interferonopathies | Until study completion, an average of 2 year. | Develop a possible consensus within the AGS Italia network on laboratory parameter (IFN signature) to be monitored during JAK-1/2 inhibitor therapy to assess the potential continuation or discontinuation due to lack of efficacy. The IFN Score is typically expressed as a fold change relative to healthy controls or as a normalized relative value, measuring the expression of interferon-stimulated genes (ISGs). In patients with pathological activation of the interferon pathway, the IFN Score ranges from 0 to \>10-15, indicating significant ISG upregulation. While the pathological cut-off varies across studies, an IFN Score \>2-3 is often considered indicative of abnormal interferon pathway activation. |
| Secondary | Consensus on Monitoring Clinical criteria (AGS scale) for JAK-1/2 Inhibitor Therapy in Aicardi-Goutières Syndrome and Related Interferonopathies | Until study completion, an average of 2 year. | Develop a possible consensus within the AGS Italia network on Clinical criteria (AGS scale) to be monitored during JAK-1/2 inhibitor therapy to assess the potential continuation or discontinuation due to lack of efficacy. The Aicardi-Goutières Syndrome (AGS) Severity Scale is a clinical tool used to assess the severity of neurological impairment in individuals with AGS. The scale ranges from 0 to 11, with higher scores indicating better neurological function. |
| Secondary | Consensus on instrumental parameters (brain MRI) for JAK-1/2 Inhibitor Therapy in Aicardi-Goutières Syndrome and Related Interferonopathies | Until study completion, an average of 2 year. | Develop a possible consensus within the AGS Italia network on brain MRI to be monitored during JAK-1/2 inhibitor therapy to assess the potential continuation or discontinuation due to lack of efficacy. Evaluate based on the progression of brain MRI to determine whether it improves, remains stable, or worsens. |
Source ClinicalTrials.gov
Outcomes0
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
None in this release.
Results by group0
Each measurement the trial posted, group by group, in the words and numbers it posted.
None in this release.
Participant flow0
How many started, completed or left each group, period by period.
None in this release.
Adverse events0
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
None in this release.
Adverse event totals0
The totals the trial posted for each group.
None in this release.
Papers0
The papers the trial lists on ClinicalTrials.gov.
None in this release.
Grants0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
None in this release.
Trial comparisons0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
None in this release.
Tests0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
None in this release.
Data dates
The day each source was copied for this release.
Sources 3
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ClinicalTrials.govNo license stated
- NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ClinicalTrials.govnone stated
- NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this trial from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/trials/v1/NCT06898372
GET https://conductscience.org/api/trials/v1/NCT06898372/registered