Research identifies several possible drug candidates for treating BPAN


Professor Robin Ketteler of University College London research update. Funds for the research grant were raised at the 2018 Million Dollar Bike Ride.

October 2020

Professor Robin Ketteler and his team at University College London have completed drug screening for potential BPAN therapies and identified several candidates that will advance to the next level of testing.

Ketteler’s team received a 2019 grant from the NBIA Disorders Association and recently reported the successful results. The BPAN drug-candidates can restore autophagy in BPAN cells, the natural process of cleaning up toxic damage in cells that is impaired in BPAN patients.

“Our results are a great starting point for further drug development,” says Ketteler. “These chemicals have characteristics of drugs, and they work in our neuronal cell model.”

The next steps are to ensure that these drug-like molecules also work in the more complex environment of the brain and can reach the brain regions that most need help.

To that end, the team plans to develop tissue models of BPAN using three-dimensional cell models.

Ketteler’s grant was made possible from funds raised by BPAN families for the 2018 Million Dollar Bike Ride held by the Orphan Disease Center at the University of Pennsylvania. Our organization writes the request for proposals and members of our Scientific & Medical Advisory Board review the applications. The University of Pennsylvania manages the grants and sends us copies of the scientific reports that are generated.

This work was done in collaboration with Professor Manju Kurian and Dr. Apostolos Papandreou, both from University College London. They had received a grant to study BPAN from our organization in 2014. (See article at, pg. 6).

Ketteler’s team built on the 2014 work, which produced a laboratory model of BPAN, using skin cells from BPAN patients and reprogramming those cells into neurons. Those cells were examined using state-of-the-art techniques to identify differences from cells in healthy people. The researchers learned that genes and proteins involved in iron metabolism are present in the patients’ cells at abnormal levels in comparison to healthy cells. This is in line with the disease’s characteristic buildup of iron in the brain. This finding encouraged the team to look more closely at the potential causes for such an increase in iron.

Ketteler is an expert in early stage drug discovery. “These findings are very exciting,” he said. “They present an opportunity to use our drug screening technologies to identify small molecule chemical compounds that might restore autophagy in these cells.”

Using innovative screening technologies involving sound to propel compounds onto the cells, Ketteler screened thousands of small molecule compounds for ones that might enhance autophagy in BPAN neurons. Interestingly, some of the compounds are part of a collection of FDA-approved drugs already being used for other diseases.

Ketteler is seeking additional funding to continue this research.



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