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Neurodegenerative Alzheimer's Disease and Amyotrophic Lateral Sclerosis (NADALS) Basket Trial

Phase 1
Active, not recruiting
Conditions
Amyotrophic Lateral Sclerosis
Mild Cognitive Impairment
Alzheimer Disease
Interventions
Registration Number
NCT05189106
Lead Sponsor
Massachusetts General Hospital
Brief Summary

This is an open-label, biomarker-driven basket trial of baricitinib in people with subjective cognitive disorder, mild cognitive impairment, Alzheimer's disease (AD), Amyotrophic lateral sclerosis (ALS), or asymptomatic carriers of an ALS-related gene, such as a hexanucleotide expansion in the C9ORF72 gene, with evidence of abnormal inflammatory signaling in cerebrospinal fluid (CSF) at baseline. Each participant will be treated with baricitinib for 24 weeks; no placebo will be given. Participants will receive baricitinib 2 mg per day by mouth for the first 8 weeks and baricitinib 4 mg per day by mouth for the remaining 16 weeks. This proof of concept trial will ascertain whether baricitinib at 2 mg per day, 4 mg per day, or both reaches therapeutic levels in the CSF and suppresses inflammatory biomarkers associated with type I interferon signaling among the study participants.

Detailed Description

Overview of Clinical Trial: Many age-associated neurodegenerative diseases, including Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS), are associated with increased inflammatory signaling in the central nervous system. While there is growing evidence that activation of inflammatory signaling leads to neuronal death in cell-based models and leads to signs and symptoms of neurodegeneration in animal models, no disease modifying anti-inflammatory drugs for AD or ALS have been found to date. Recent observational studies of anti-inflammatory drugs used to treat rheumatoid arthritis suggest the potential of these drugs to prevent a diagnosis of AD.

This is an open-label, biomarker-driven basket trial of baricitinib in individuals with mild cognitive impairment (MCI), subjective cognitive decline (SCD), AD, ALS, or asymptomatic carriers of an ALS causative gene, such as a hexanucleotide expansion in the C9ORF72 gene. Baricitinib at 2 mg per day is approved by the FDA in the United States (US) for rheumatoid arthritis. Baricitinib at 4 mg per day is approved has emergency use authorization by the FDA for COVID-19 in the US. Each participant will be treated with open-label baricitinib for 24 weeks. No patient will receive a placebo. Participants will receive baricitinib 2 mg per day by mouth for the first 8 weeks and baricitinib 4 mg per day by mouth for the remaining 16 weeks. Participants will have a lumbar puncture (LP) at screening and cerebrospinal fluid (CSF) will be examined for study eligibility. Participants will be enrolled if their CSF level inflammatory biomarker meets threshold requirements and if they meet all other eligibility criteria. All enrolled participants must have received a first dose of recombinant zoster vaccine (RZV; also known as Shingrix) within 4 years prior to treatment initiation. Over the course of 32-week trial, there will be a total of 8 visits. Blood will be collected at 7 visits, urine and CSF will be collected at 4 visits. Clinical outcomes will be measured at 2 visits.

Rationale: Converging evidence reveals inflammatory signaling is robustly active within the central nervous system of subsets of patients with AD and ALS, both in autopsied brains and profiles of CSF of living patients. Moreover, investigators find biomarkers of inflammatory signaling in the CSF of a subset of patients with AD and ALS. Baricitinib, an FDA-approved drug for rheumatoid arthritis, rescued inflammatory biomarkers and neural cell death in a human neural cell culture model of inflammatory-mediated death in a dose-dependent manner. Independently, in computational biology studies of gene expression profiles of AD brains termed DRIAD (drug repurposing in AD), baricitinib was among the leading drugs that reversed the actions of AD. Investigators have characterized a signature of inflammatory signaling in the brains and CSF of AD and ALS patients that is specific for this inflammatory mechanism of neuronal death.

This work has laid the foundation for the design of a mechanistic, biomarker-driven trial. In this trial, investigators will evaluate the FDA-approved JAK inhibitor baricitinib using an escalating dose design. Baricitinib is an oral medication FDA-approved for rheumatoid arthritis at a 2-mg daily dosage and FDA emergency use authorized for COVID-19 at a 4 mg daily dosage. The trial will determine whether baricitinib at 2 mg per day 4 mg per day, or both enters the cerebrospinal fluid and attains therapeutic levels, as well as whether it reduces inflammatory biomarkers in the CSF of patients at risk for or with AD and at risk for or with ALS. If this Phase I/II trial demonstrates that baricitinib is safe in AD and ALS patients and achieves therapeutic levels in the CSF as determined by drug concentration and pharmacodynamic biomarkers, then a Phase III clinical trial powered to assess clinical outcomes in AD patients, ALS patients, or both would be warranted.

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
20
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
BaricitinibBaricitinibBaricitinib 2mg administered by mouth once daily for the first 8 weeks, followed by baricitinib 4mg administered by mouth once daily for 16 weeks.
Primary Outcome Measures
NameTimeMethod
CSF Concentration of baricitinibMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

Total levels of baricitinib in the CSF of participants 2 hours after 2 mg and 4 mg oral dosing of baricitinib.

CSF CCL2 ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The inflammatory biomarker CCL2 quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

Secondary Outcome Measures
NameTimeMethod
CSF protein-kinase R (PKR) ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The inflammatory biomarker PKR protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF phospho-PKR (pPKR) ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The inflammatory biomarker phospho-PKR protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF neurofilament light chain (NfL) ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The neuronal death biomarker NfL protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF pPKR/PKR ratio ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The ratio of the inflammatory biomarkers pPKR/PKR quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF C-X-C motif chemokine ligand 10 (CXCL10) ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The inflammatory biomarker CXCL10 protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF interferon gamma (IFNG) ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The inflammatory biomarker IFNG protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF interleukin-6 (IL-6) ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The inflammatory biomarker IL-6 protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

TAR DNA-binding protein 43 (TDP-43) Plasma LevelsMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The TDP-43 protein quantified in the plasma of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF tau ConcentrationMeasured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The neuronal death biomarker Tau protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

CSF phospho-tau (pTau)Measured at baseline, 8 weeks and 16 weeks, results reported at the completion of the study

The neuronal death biomarker pTau protein quantified in the CSF of participants after 2 mg of 4 mg oral dose relative to baseline.

Incidence of Adverse EffectsThrough study completion, an average of 1 year

Investigators will quantify the occurrence of treatment-emergent adverse events, treatment-emergent serious adverse events, and treatment-emergent clinically significant abnormalities in clinical and laboratory values both overall and among AD and ALS participants separately. AEs will be coded to system organ class and preferred terms from a consistent version of the MedDRA library and summarized as counts of events and proportions of participants experiencing a given type of event. The distribution of severity, relationship to the study intervention, action taken with respect to study intervention, and outcome of all treatment emergent adverse effects will be tabulated. The rate of adverse effects in trial participants will be compared to the frequency of adverse effects documented in the package insert.

Trial Locations

Locations (2)

Massachusetts General Hospital - ALS Site

🇺🇸

Boston, Massachusetts, United States

Massachusetts General Hospital - AD Site

🇺🇸

Charlestown, Massachusetts, United States

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