A Phase 2a Study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS)

Conditions

Aicardi-Goutières Syndrome (AGS)

Brief summary

Reduction in innate immune signaling, as assessed by the expression of 24 ISG, used to calculate an IFN score in whole blood., Incidence and severity of treatment-emergent adverse events (TEAEs) with TPN-101 administered for up to 48 weeks in patients with AGS.

Detailed description

Concentrations of TPN-101 in plasma and cerebrospinal fluid (CSF), L1 expression including L1 RNA, IFN levels in blood and CSF, including IFN-alpha and IFN-gamma, and genome-wide RNA-Seq expression analysis in whole blood, Other inflammatory biomarkers in blood and CSF (e.g., neopterin), Neurodegeneration biomarkers, including NfL, UCHL-1, tau, and GFAP in blood and CSF, Brain magnetic resonance imaging (MRI) including arterial spin labeling for measurement of cerebral blood flow, Clinical and functional status, as measured by Vineland-3, AGS Scale, Caregiver Diary Score, BSID III, WPPSI-IV, WISC-V, WAIS-IV, GMFM-88, and classification according to 5 systems: GMFCS, MACS, CFCS, EDACS, and VFCS

Related papers

No related papers found yet.

Interventions

DRUGcensavudine

Eligibility

Sex/Gender

All

Age

0 Years to 64 Years

Design outcomes

Primary

Measure	Time frame
Reduction in innate immune signaling, as assessed by the expression of 24 ISG, used to calculate an IFN score in whole blood., Incidence and severity of treatment-emergent adverse events (TEAEs) with TPN-101 administered for up to 48 weeks in patients with AGS.	—

Secondary

Measure	Time frame
Concentrations of TPN-101 in plasma and cerebrospinal fluid (CSF), L1 expression including L1 RNA, IFN levels in blood and CSF, including IFN-alpha and IFN-gamma, and genome-wide RNA-Seq expression analysis in whole blood, Other inflammatory biomarkers in blood and CSF (e.g., neopterin), Neurodegeneration biomarkers, including NfL, UCHL-1, tau, and GFAP in blood and CSF, Brain magnetic resonance imaging (MRI) including arterial spin labeling for measurement of cerebral blood flow, Clinical and functional status, as measured by Vineland-3, AGS Scale, Caregiver Diary Score, BSID III, WPPSI-IV, WISC-V, WAIS-IV, GMFM-88, and classification according to 5 systems: GMFCS, MACS, CFCS, EDACS, and VFCS	—

Measure

Time frame

Concentrations of TPN-101 in plasma and cerebrospinal fluid (CSF), L1 expression including L1 RNA, IFN levels in blood and CSF, including IFN-alpha and IFN-gamma, and genome-wide RNA-Seq expression analysis in whole blood, Other inflammatory biomarkers in blood and CSF (e.g., neopterin), Neurodegeneration biomarkers, including NfL, UCHL-1, tau, and GFAP in blood and CSF, Brain magnetic resonance imaging (MRI) including arterial spin labeling for measurement of cerebral blood flow, Clinical and functional status, as measured by Vineland-3, AGS Scale, Caregiver Diary Score, BSID III, WPPSI-IV, WISC-V, WAIS-IV, GMFM-88, and classification according to 5 systems: GMFCS, MACS, CFCS, EDACS, and VFCS

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Countries

France, Italy

Outcome results

None listed