Neurodegenerative disorders with brain iron accumulation – finding new treatments

Research Training Fellowship*: Dr Apostolos Papandreou

Children with a devastating rare disease called beta-propeller protein-associated neurodegeneration (BPAN) may one day benefit from research by Dr Apostolos Papandreou of University College London. Children with BPAN are often slow to reach developmental milestones, and as time goes by they become increasingly disabled and have symptoms of dementia. Dr Papandreou is investigating the ways in which brain cells of children with BPAN malfunction and looking for drugs that help correct the cells’ behaviour. His longer term goal is to set up clinical trials of possible new treatments, in the hope of alleviating children’s disability and improving their lives.

This fellowship is co-funded by Action Medical Research and the BPNA (British Paediatric Neurology Association).

How are children’s lives affected now?

“Babies and children with BPAN tend to be slow to reach developmental milestones, such as crawling, walking and talking,” says Dr Papandreou. “They can also have epilepsy and sleep problems.”

Sadly, the children’s condition deteriorates significantly as they get older. Teenagers and young people with BPAN develop abnormal muscle tone, along with symptoms of Parkinson’s disease and dementia.

“Unfortunately, BPAN is a progressive, life-limiting disorder,” says Dr Papandreou. “Sooner or later, children lose skills they’ve previously acquired and their quality of life worsens. They invariably need increasing levels of support in all aspects of everyday life.”

“There’s no cure for BPAN, so current approaches to treatment focus on alleviating symptoms, adds Dr Papandreou. “Parents I’ve met understandably feel devastated about their child’s condition. However, they’re also keen to explore new avenues and participate in research projects, hoping to find answers for their loved ones and for others, which I find truly inspiring.”

How could this research help?

“Having cared for children with BPAN, I’m aware of the severe disability the condition causes, the poor understanding of the disease mechanisms involved and the lack of effective treatments,” says Dr Papandreou. “These are the very issues I’d like to address through my research.”

“My goal is to improve understanding of the ways in which brain cells malfunction in BPAN and find drug treatments that may lessen or even reverse this malfunction in the laboratory,” says Dr Papandreou. “Drugs that show the most promise could then be tested further and put forward for future clinical trials, with the ultimate aim of developing treatments that improve the lives of both children with BPAN and their families.”

“BPAN has certain similarities to some other devastating neurological conditions, such as Parkinson’s disease and Alzheimer’s disease,” says Dr Papandreou. “It’s possible our findings will be helpful in the search for new ways to treat these conditions too.”

* Research Training Fellowships:
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research