Open letter from lead research Doctor, Dr. Vanderver

Dear AGS Families,
In 2016, Dr. Adeline Vanderver accepted a position at Children's Hospital of Philadelphia, or CHOP, to lead the Leukodystrophy Center of Excellence. This comprehensive center includes an integrated team of physicians and specialists who will be focusing on leukodystrophy care and research.  
What does that mean for AGS and our families?  It means she will be given a greater opportunity to continue research with a better infrastructure and more support, for all leukodystrophies and in particular for AGS.  She will travel to Washington DC to see patients one day a week in the neurology clinic, as well as coming to NIH to continue her work on the upcoming AGS drug trial. Future family conferences will now be held in Philadelphia.  She expects all her ongoing work in AGS to continue and grow with this new opportunity for our group. 

Current Research 

Dr. Vanderver, Children's HOSPITAL OF PHILADELPHIA 

Dr. Vanderver is undertaking two clinical trials directed at mutations AGS1-7. The first trial, still waiting on necessary approvals, uses a Reverse Transcriptase Inhibitor (RTI) and will be directed at AGS 1-5 patients. The RTI drugs are currently used as the protocol in the treatment of patients who are HIV positive. The hope is that RTI drugs can also inhibit the autoimmune response seen in AGS.

The second trial is directed at patients with AGS 6-7 and patients with AGS 1-5 under the age of two years old. This trial employs a JAK inhibitor in an attempt to mediate the interferon response driven by the immune system's abnormal response to a misidentified virus. 

For more information on enrolling in one of these trials, please contact Nicole Ulrick, Clinical Research Coordinator at CHOP. Her email is


Dr. Yanick Crow, Paris Hospital Necker

Dr. Crow's trial began in September 2015 and initially focused on 24 patients ranging in age from one month to 17 years old. Only patients with type 1 through 5 are eligible for this trial. In this study, various RTIs will be employed in an attempt to halt the autoimmune response. 

Please contact for more information. 

Young Researcher Award

We are pleased to announce a grant for researchers to pursue a study of an AGS-related topic. General criteria include:

  • Submitted research should be toward a PhD program or post-doc program approved by a credible scientific  committee.   

  • Topics include: Genetics, Molecular biology, Cellular biology, Biochemistry, Neurology, Neuroscience, Diet, Physical Therapy, Gastrointestinal

  • The grant shall be used directly in funding the approved research

  • Age of the researcher shall be younger than 30 years old

Please send your proposal containing a summary of research and your resume to