Sunday, February 21, 2021

Ruxolitinib Case Study

Note: this blog reports on a Ruxolitinib case study, it is different than my report last year on a case study of Fenofibrate.  These are different case studies on different drugs; don't mix them up.
This blog is different from most of my blogs because I'm reporting on a case study rather than a clinical trial.  A case study is the experience of one person who got a treatment, as reported in a medical journal.  Even the smallest (phase-I) trials usually have 10 or more people enrolled.  But this journal article reports on a single person's experiences with a new treatment.

I'll discuss exactly what happened in more detail below, but the summary is that: In a teenager who has many different health issues including type-1 diabetes, genetic testing found an unusual STAT1 gene which led to a diagnosis of STAT1 Gain-Of-Function Disease (SGOF).  Ruxolitinib is a known treatment for SGOF.  Using it improved the symptoms of many of the issues he faced.  His need for injected insulin gradually decreased until he stopped using it and has been insulin free for over a year as of Oct-2020.

More Details

The person involved had chronic immune triggered yeast infections, chronic diarrhea, oral and rectal ulcers, recurrent infections (otitis, tonsillitis, sinusitis, and bronchitis), and an immune problem causing underproduction of immunoglobulins (called hypogammaglobulinemia). Two years later he was diagnosed with T1D.  Nine months later genetic testing found the unusual STAT1 gene, and he started Ruxolitinib.  This led to some of his previous symptoms resolving, while others improved, including his T1D.  He used less injected insulin and his A1c improved.  After 12 months of Ruxolitinib (21 months after diagnosis of T1D) he stopped using injected insulin completely.

Ruxolitinib is a JAK1/JAK2 inhibitor.  It has been approved for use in the US since 2011, but its use for SGOF is "off label" because its approvals are for cancer and graft vs host disease.  

The STAT1 gene mutation was "c.1154C→T, pT385 M".

The letter was written by these researchers in Houston and San Francisco:
Baylor College of Medicine, Houston, TX: Lisa R. Forbes (, Natalia S. Chaimowitz, Sophia J. Ebenezer, I. Celine Hanson
University of California, San Francisco, Medical Center, San Francisco, CA: Mark Anderson


The obvious question is: Did Ruxolitinib cure his T1D specifically or did it cure SGOF in general and cured the T1D as a side effect of curing the SGOF?  Or, put more simply: will it work on people who have T1D but not SGOF?

My gut feeling is that this patient has a very different version of T1D than the vast majority of people with T1D.  Something much closer to "MODY", an unusual form of diabetes described here:

However, I'm still interested in testing Ruxolitinib in a clinical trial.  Actually two: one for people who have T1D but not the STAT1 gene mutation, and another for people who have T1D and an unusual STAT1 gene.  A relatively small (10 person/one year) trial would immediately tell us if more research is worthwhile or not.  (And some researchers in Australia have already filed the paperwork to start one of these trials.  See below.)

I do think that people who have T1D and other symptoms related to STAT1 gain-of-function disease should either discuss this treatment with their doctor(s) or get in touch with these researchers.

This patient has already gone over a year without using insulin, so I'm totally comfortable saying that his T1D is in remission.  If others want to call him cured (or maybe temporarily cured), that is reasonable to me as well.  I do hope we get updates to see if this continues.

Sources and Extra Reading

The Letter:

Here is some research from mice:

Wikipedia on Ruxolitinib:

Related Research
There is an Australian, 83 person, phase-II clinical trial which was registered in February 2020, but has not yet started recruiting.  This study will use Baricitinib which is a different JAK1/JAK2 inhibitor.  This trial will recruit people in the honeymoon phase of T1D.  No STAT1 gene testing will be done, so this it the "T1D with normal STAT1" clinical trial described above.  As is my policy, I'll blog more fully on this once it starts recruiting.

A case study of Baricitinib on a person with T1D (and other autoimmune diseases) is described here:

The results included "Regarding the influence on slowly progressive type 1 diabetes, the required daily dose of insulin decreased rapidly after the start of treatment (17⟶11 units), and the HbA1c level also decreased (7.4%⟶6.4%)".  No data on C-peptide changes were reported.  


Joshua Levy
publicjoshualevy at gmail dot com
All the views expressed here are those of Joshua Levy, and nothing here is official JDRF or JDCA news, views, policies or opinions. My daughter has type-1 diabetes and participates in clinical trials, which might be discussed here. My blog contains a more complete non-conflict of interest statement. Thanks to everyone who helps with the blog.