NCT02363452

Brief Summary

The purpose of this study is to determine if treatment with reverse transcriptase inhibitors returns the interferon signature observed in patients with AGS to normal levels.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
11

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Sep 2015

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 15, 2015

Completed
1 month until next milestone

First Posted

Study publicly available on registry

February 16, 2015

Completed
7 months until next milestone

Study Start

First participant enrolled

September 10, 2015

Completed
2.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2018

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2018

Completed
Last Updated

September 5, 2025

Status Verified

August 1, 2025

Enrollment Period

2.3 years

First QC Date

January 15, 2015

Last Update Submit

August 29, 2025

Conditions

Aicardi-Goutières Syndrome (AGS)

Keywords

Aicardi-Goutières syndromeReverse transcriptase inhibitorsopen single studyinterferon signature

Outcome Measures

Primary Outcomes (1)

  • Interferon signature

    Interferon Score

    Before and after 12 months of treatment

Secondary Outcomes (29)

  • Interferon signature

    Month 18

  • Adverse Events

    Baseline until Month 18

  • Interferon Activity Level in cerebrospinal fluid (UI/L)

    Within the 12 month on treatment

  • Interferon Activity Level in blood (UI/L)

    Within the 12 month on treatment

  • Interferon Activity Level in blood (UI/L)

    month 18

  • +24 more secondary outcomes

Study Arms (1)

AGS

EXPERIMENTAL

Reverse transcriptase inhibitors

Drug: Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir

Interventions

Reverse transcriptase inhibitors: Zidovudine, Lamivudine, AbacavirDRUG

Oral Solution (syrup) or Tablets

AGS

Eligibility Criteria

Age1 Month - 17 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

You may qualify if:

  • A molecular diagnosis of AGS i.e. biallelic or known dominant mutations, with pathogenicity assessed using our extensive mutation database / functional data, in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C and SAMHD1 genes
  • A pre-defined interferon signature (consistently present, moderate or high, on at least three occasions, over a period of 6 months prior to enrolment in the study)
  • Age ≥ 1 month and \< 18 years (either sex)
  • Patient beneficiary or affiliated to " health insurance"
  • Written informed consent

You may not qualify if:

  • Pre-existing disease, not due to AGS, which would preclude the use of zidovudine, Lamivudine and abacavir (as currently assessed in routine clinical HIV-related practice)
  • HLA B57-01 positive result, which indicates a greater risk of abacavir hypersensitivity reaction
  • Patients with abnormally low neutrophile counts (\<0.75 x 109/l), or abnormally low haemoglobin levels (\<7.5 g/dl or 4.65 mmol/l)(zidovudine contraindication)
  • Positive serology for HIV, HBV
  • Known history of cirrhosis and history of clinically relevant hepatitis within last 6 months
  • Moderate to severe renal impairment
  • Pregnancy, breastfeeding
  • Patient participating to a biomedical research with drug

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker - Enfants Malades

Paris, 75015, France

Location

Related Publications (2)

  • Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI. Therapies in Aicardi-Goutieres syndrome. Clin Exp Immunol. 2014 Jan;175(1):1-8. doi: 10.1111/cei.12115.

    PMID: 23607857BACKGROUND

  • Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Fremond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ. Reverse-Transcriptase Inhibitors in the Aicardi-Goutieres Syndrome. N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. No abstract available.

    PMID: 30566312BACKGROUND

MeSH Terms

Interventions

Lamivudineabacavir

Intervention Hierarchy (Ancestors)

ZalcitabineDeoxycytidineCytidinePyrimidine NucleosidesPyrimidinesHeterocyclic Compounds, 1-RingHeterocyclic CompoundsDeoxyribonucleosidesNucleosidesNucleic Acids, Nucleotides, and NucleosidesDideoxynucleosides

Study Officials

  • Yanick CROW, MD, PhD

    Hôpital Necker - Enfants Malades Public Hospitals of Paris

    STUDY CHAIR

  • Stéphane BLANCHE, MD,PhD

    Hôpital Necker - Enfants Malades Public Hospitals of Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 15, 2015

First Posted

February 16, 2015

Study Start

September 10, 2015

Primary Completion

January 1, 2018

Study Completion

June 1, 2018

Last Updated

September 5, 2025

Record last verified: 2025-08

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)