Clinical trials: Aicardi Syndrome
Aicardi Goutieres Syndrome
JAK Inhibitor Treatment in AGS
The primary objective of this study is to assess safety as well as efficacy of baricitinib, a Janus Kinase (JAK) inhibitor, in patients with Aicardi Goutières Syndrome (AGS), a multisystem heritable disorder of the innate…
- Trial name
- NCT03921554
- Testing
- Baricitinib
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- Adeline Vanderver, MD
Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE), Juvenile Dermatomyositis (JDM)
Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes
The Requesting Physician/Investigator contacts Lilly when, based on their medical opinion, a patient meets the criteria for inclusion in the expanded access program.
- Conditions
- Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE), Juvenile Dermatomyositis (JDM), Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset During Infancy (SAVI), Aicardi-Goutières Syndrome (AGS)
- Trial name
- NCT01724580
- Testing
- Baricitinib
- Where
- 3 sites in United States, United Kingdom
- Sponsor
- Eli Lilly and Company
Aicardi Syndrome, Brain Disorders
Study of Selected X-Linked Disorders: Aicardi Syndrome
Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome.
- Trial name
- NCT00697411
- Testing
- Syndrome cause identification
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Baylor College of Medicine
Nakajo-Nishimura Syndrome, Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome
A Study of Baricitinib (LY3009104) in Adult and Pediatric Japanese Participants With NNS/CANDLE, SAVI, and AGS
The main purpose of this study is to evaluate the efficacy and safety of baricitinib in adult and pediatric Japanese participants with Nakajo-Nishimura Syndrome/chronic atypical neutrophilic dermatosis with lipodystrophy and…
- Conditions
- Nakajo-Nishimura Syndrome, Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome, STING-Associated Vasculopathy With Onset in Infancy, Aicardi Goutieres Syndrome
- Trial name
- NCT04517253
- Testing
- Baricitinib
- Where
- 5 sites in Japan
- Volunteers
- 10 people
- Sponsor
- Eli Lilly and Company
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Aicardi Goutières Syndrome
Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome
The overall objectives are to explore the safety and efficacy of Reverse Transcriptase Inhibitors Tenofovir (TDF)/ Emtricitabine (FTC) administered in AGS affected children 2 to 18 years of age.
- Trial name
- RTI in AGS (NCT03304717)
- Testing
- Tenofovir (TDF) and Emtricitabine (FTC)
- Sponsor
- Children's Hospital of Philadelphia
Epilepsy
Impact of Interictal Electroencephalographic Abnormalities on the Stability of Attention in the Epilepsies
Cognitive disorders are a major problem in patients with epilepsy. One hypothesis is that the anomalies EEGs (AIC) may be responsible for short periods of attentional fluctuations causing a reduction of intellectual efficiency of…
- Trial name
- COGNIT-AIC (NCT03094793)
- Testing
- abnormal EEGs
- Where
- 2 sites in France
- Volunteers
- 162 people
- Sponsor
- University Hospital, Grenoble
Aicardi-Goutières Syndrome
Inhibition of Reverse Transcription in Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome (AGS) is a disease of children, particularly affecting the brain and the skin. There is a close link between AGS and increased amounts of a chemical called interferon.
- Trial name
- AGS-RTI (NCT04731103)
- Testing
- Abacavir (ABC), Lamivudine (3TC), Abacavir (ABC)+Lamivudine (3TC)+Zidovudine (AZT)
- Where
- United Kingdom
- Volunteers
- 13 people
- Sponsor
- University of Edinburgh
Aicardi-Goutières Syndrome (AGS)
Reverse Transcriptase Inhibitors in AGS
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 name
- RTIs in AGS (NCT02363452)
- Testing
- Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
- Where
- France
- Volunteers
- 11 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Brain Disorders, Aicardi Syndrome
Brain Development Research Program
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus…
- Trial name
- NCT00305305
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of California, San Francisco
Aicardi-Goutières Syndrome (AGS)
TPN-101 in Aicardi-Goutières Syndrome (AGS)
A phase 2a multi-center, open-label single dose level study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS)
- Trial name
- NCT05613868
- Testing
- TPN-101
- Where
- 5 sites in France, Italy and 1 more
- Volunteers
- 4 people
- Sponsor
- Transposon Therapeutics, Inc.
Aicardi-Goutières Syndrome (AGS)
Evaluate the Efficacy of Anti-Jak1 Inhibitors as Treatment for Patients With Aicardi-Goutières Syndrome
Aicardi-Goutières Syndrome (AGS) is a hereditary multisystem autoinflammatory disorder that predominantly affects the central nervous system.
- Trial name
- NCT06898372
- Testing
- JAK Inhibitor
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- IRCCS Fondazione Stella Maris
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia