Orphan drug for Wolfram syndrome


New treatment for rare disease

The technology

The University of Birmingham has a candidate drug for Wolfram Syndrome, a rare (1 in 700,000), life-limiting disease that currently has no treatment.

The potential treatment could slow or halt the disease process, and improve quality of life and prolong life expectancy for people with Wolfram Syndrome.

Wolfram Syndrome is caused by a single gene mutation, and results in early onset diabetes and progressive neurodegeneration.

The signature of Wolfram Syndrome is the depletion of Wolfram protein in the central nervous system. This depletion causes cellular stress, which triggers programmed cell death.

The cell death is preceded by a reduction in p21 protein, which is a target for preventing Wolfram Syndrome (WS)-related neurodegeneration.

University of Birmingham researchers reproduced the pathology underlying Wolfram Syndrome in a human cell line model, and used this cell line to test candidate drugs.

These in vitro studies showed sodium valproate both stimulates p21 expression and reduces cell death.

The researchers have since demonstrated that the neurons that are rescued from cell death are able to function normally, creating new connections. It is hoped that in vivo studies will demonstrate that this neuronal rescue effect can compensate for previously lost functionality.

We have obtained Orphan Drug Designation in Europe (EMA) and the USA (FDA) for the use of sodium valproate in the treatment of WS-related neurodegeneration, and the drug is now undergoing its first randomized controlled clinical trial in Wolfram Syndrome.


  • Orphan drug status granted by FDA and EMA
  • Existing drug with known pharmacokinetics and pharmacodynamics


  • Treatment to delay the progression of Wolfram Syndrome-related neurodegeneration


We are looking for a company to partner with who would be willing to take this opportunity to market after the clinical trial.

Lead scientist

  • Professor Timothy Barrett, Institute of Cancer and Genomic Sciences, University of Birmingham, and Professor of Paediatrics, Honorary Consultant in Paediatric Endocrinology and Diabetes, and Program Director for the Wellcome Trust Clinical Research Facility at Birmingham Children’s Hospital.
  • Dr Zsuzsanna Nagy, Institute of Inflammation and Ageing, University of Birmingham.