A team of physicians from Baylor College of Medicine, Texas Children’s Hospital and the University of California, San Francisco, have announced the first case of a patient with Type 1 diabetes who no longer needs insulin to maintain optimal blood sugar levels. The physicians specifically targeted the underlying genetic mutation, which was the primary driver of this patient’s diabetes, using a precision medicine approach.
The patient, a 17-year-old male, was diagnosed with classical autoimmune presentation of Type 1 diabetes (T1D). The patient had also had recurrent episodes of respiratory infections. This combination led to his referral to Forbes’ team.
“To the best of our knowledge, this is the first example of a T1D patient who has experienced a complete reversal of insulin dependence. We are excited by the prospect that this approach could be a viable therapeutic strategy for a subset of T1D patients,” said corresponding author Dr Lisa R. Forbes, deputy director for clinical services and community outreach for the Texas Children’s William T Shearer Center for Human Immunobiology and assistant professor of paediatrics, immunology, allergy and retrovirology at Baylor.
A deeper investigation into the patient’s genome revealed that he harboured a harmful mutation in the gene STAT1 (signal transducer and activator of transcription 1). The mutation boosted the activity of the STAT1 protein. Enhanced STAT1 protein activity is known to drive respiratory infections and various autoimmune conditions, including T1D.
The patient was treated with a regimen of ruxolitinib, a potent inhibitor of the Jak/STAT signalling pathway, which had been shown previously to improve many symptoms related to enhanced JAK/STAT signalling.
For almost two years now, the patient has not needed insulin. “This case was quite fascinating!” said one of the lead authors, Dr Sophia Ebenezer, assistant professor of paediatric endocrinology at Baylor and Texas Children’s. “The patient no longer needs daily insulin injections and has shown full remission of other clinical signs of T1D along with marked improvements in his quality of life.”
While these results are promising, it remains plausible that this could be a transient effect and could recur at a later stage, the authors say. A longer clinical assessment of the patient is required to confirm if he can remain insulin-free permanently.
Read the case report in the New England Journal of Medicine and more from the Texas Children’s Hospital HERE.
Read the blog HERE.