What is the mechanism of action of this treatment?

Aicardi-Goutières Syndrome (AGS) is a multisystem disorder characterized by excessive interferon production due to innate immune system dysregulation. Baricitinib, a Janus Kinase (JAK) inhibitor, works by blocking the JAK-STAT signaling pathway, which is involved in the production of interferons and other cytokines. By inhibiting this pathway, Baricitinib reduces the inflammatory response and interferon production, addressing the underlying cause of AGS symptoms. This mechanism is significant for AGS patients as it directly targets the excessive immune activation that drives the disease, potentially improving clinical outcomes and quality of life.

What side effects are associated with this type of intervention?

Baricitinib, a Janus Kinase (JAK) inhibitor, is being studied for its safety and efficacy in treating Aicardi-Goutières Syndrome (AGS). Common side effects of JAK inhibitors, including Baricitinib, may include increased risk of infections, elevated liver enzymes, and potential blood abnormalities such as anemia and thrombocytopenia. Patients may also experience headaches, dizziness, and gastrointestinal issues. It is important to monitor these side effects closely and discuss them with a healthcare provider to manage and mitigate risks effectively.

What prior FDA approvals exist?

There are no specific FDA-approved treatments for Aicardi-Goutières Syndrome (AGS) mentioned in the provided context. However, Baricitinib, a Janus Kinase (JAK) inhibitor, is being studied for its safety and efficacy in treating AGS. JAK inhibitors are a class of drugs that can modulate the immune response and have been approved for other autoimmune and inflammatory conditions, such as rheumatoid arthritis.

What other types of research exist?

Promising novel alternatives to Baricitinib for Aicardi-Goutières Syndrome patients could include other JAK inhibitors such as Ruxolitinib or Fedratinib, which have shown efficacy in other conditions involving dysregulated immune responses. Additionally, therapies targeting specific cytokines or interferon pathways, as well as emerging gene therapies, might be considered as potential options.

← Back to Search

Janus Kinase (JAK) Inhibitor

Baricitinib for AGS

Phase 2

Waitlist Available

Research Sponsored by Adeline Vanderver, MD

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Females after menarche must have a negative urine/serum pregnancy test and must use an acceptable method of contraception

≥4.5 kg in body weight

Must not have

Evidence of active or latent TB as documented by a positive purified protein derivative (PPD) test, medical history, and chest x-ray at screening

Unable or unwilling to make themselves available for the duration of the study and/or unwilling to follow study restrictions/procedures

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 52 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing a medication that reduces inflammation in patients with Aicardi Goutières Syndrome (AGS). AGS is a rare genetic disorder causing severe disabilities due to excessive interferon production. The medication works by blocking enzymes that lead to inflammation, aiming to reduce the harmful effects of interferon.

Who is the study for?

This trial is for patients with Aicardi Goutières Syndrome (AGS), showing neurological disease on scans, specific clinical features, and genetic mutations linked to AGS. Participants must be over 1 month old and weigh at least 4.5 kg. Women capable of pregnancy must test negative and use contraception. Exclusions include current/recent participation in other trials, certain medication use, TB or hepatitis infection, HIV positive status.

What is being tested?

The study tests the safety and effectiveness of Baricitinib, a JAK inhibitor drug designed to reduce excessive immune activity in AGS patients by blocking certain enzymes involved in inflammation.

What are the potential side effects?

While not explicitly listed here, common side effects of JAK inhibitors like Baricitinib may include infections due to lowered immunity, blood clots, cholesterol changes, liver enzyme elevations among others.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Select...

I am a woman of childbearing age and not pregnant, using birth control.

Select...

I weigh more than 4.5 kg.

Select...

I have been diagnosed with Aicardi Goutières Syndrome.

Select...

My genetic test shows a mutation linked to my condition.

Select...

My brain scans show signs of disease, like calcifications or white matter disease.

Select...

I am older than 1 month.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

Select...

I have tested positive for TB or have a history of TB.

Select...

I am willing and able to follow the study's requirements.

Select...

I have tested positive for Hepatitis C.

Select...

I am not taking any medication that is not allowed in the study.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 52 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~52 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and 52 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Measurement of change with AGS scale at baseline

Secondary study objectives

Functional measures of neurologic disability

Gross Motor Function Measure-88 (GMFM-88)

Measurement of disease severity assessed by daily diary disease severity scale

+2 more

Side effects data

From 2015 Phase 3 trial • 1307 Patients • NCT01710358

Nasopharyngitis

Pharyngitis

Urinary tract infection

Bronchitis

Back pain

Upper respiratory tract infection

100%

80%

60%

40%

20%

Study treatment Arm

Adalimumab Treatment B

Placebo Follow-up

Baricitinib Follow-up

BaricitinibTreatment B

Placebo Treatment B

Adalimumab Follow-up

Baricitinib Treatment A

Adalimumab Treatment A

Placebo Treatment A

Rescue

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: Aicardi Goutières Syndrome patients receiving BaricitinibExperimental Treatment1 Intervention

Baricitinib will be taken by mouth or via gastrostomy feeding tube or nasogastric tube as directed by the study doctor. Baricitinib will be dosed by patient age, weight range and estimated glomerular filtration rate (eGFR). Dosing formulations in use in this study will include 1 mg and 2 mg tablets and will be used without splitting. Dispersion will be permitted to aid in swallowing.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Baricitinib

2017

Completed Phase 3

~9510

0 / 10Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Aicardi-Goutières Syndrome (AGS) is a multisystem disorder characterized by excessive interferon production due to innate immune system dysregulation. Baricitinib, a Janus Kinase (JAK) inhibitor, works by blocking the JAK-STAT signaling pathway, which is involved in the production of interferons and other cytokines. By inhibiting this pathway, Baricitinib reduces the inflammatory response and interferon production, addressing the underlying cause of AGS symptoms. This mechanism is significant for AGS patients as it directly targets the excessive immune activation that drives the disease, potentially improving clinical outcomes and quality of life.

Real-world analysis of main clinical outcomes in patients with polycythemia vera treated with ruxolitinib or best available therapy after developing resistance/intolerance to hydroxyurea.New drugs in early development for treating multiple myeloma: all that glitters is not gold.Recommendations on the use of ruxolitinib for the treatment of myelofibrosis.