Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

Beta-Propeller Protein-Associated Neurodegeneration (BPAN) is a very rare genetic condition that affects the brain.

Children with BPAN usually show signs in early childhood, such as delays in learning to speak, move or develop other skills. As they get older, many experience a gradual worsening of symptoms, which can include:

• difficulties with movement (such as stiffness or involuntary movements)
• seizures (epilepsy)
• problems with communication
• loss of skills they had previously developed

BPAN is part of a group of conditions known as Neurodegeneration with Brain Iron Accumulation (NBIA), where iron builds up in certain parts of the brain.

BPAN is caused by changes (variants) in a gene called WDR45. These changes affect how brain cells function and survive.

There are different types of genetic changes, including deletions (where part of the gene is missing) and other types of variants (where part of the gene is changed). At present, it is not fully understood how different genetic changes affect how the condition develops over time. Ongoing research aims to answer this. 

BPAN is usually diagnosed through genetic testing, often after a child shows developmental delay or other neurological symptoms.

Specialist teams may also use different assessments to help understand how the condition is affecting the child.

There is currently no cure or specific treatment that can stop BPAN from progressing.

However, children with BPAN benefit from supportive care tailored to their needs. This often involves a multidisciplinary team, which may include:

• physiotherapy to support movement and strength
• occupational therapy to help with daily activities and equipment
• speech and language therapy for communication and swallowing
• dietetic support to monitor nutrition and growth
• regular hearing and vision assessments
• support for seizures, muscle stiffness and behavioural needs

This approach helps maximise quality of life and supports children and their families. 

If a child has iron deficiency, this should be treated in the usual way. There is currently no evidence that appropriate iron supplements worsen BPAN symptoms.

Research into BPAN is ongoing, with teams at GOSH and partner organisations working to better understand the condition and develop new treatments.

One area of focus is gene therapy, which aims to address the underlying genetic cause of BPAN. This work is still at an early stage and involves:

• laboratory (pre-clinical) research
• securing funding for further development
• carefully designed clinical trials

At present, it is not yet possible to predict exactly when treatments such as gene therapy will be available, as this depends on research progress and funding.

Clinical trials will only take place once treatments have been shown to be safe and potentially effective, and each trial will have specific eligibility criteria for participants.

As young people with BPAN approach adulthood, their care is usually transitioned to adult neurology services.

At GOSH, patients are typically referred to specialist adult centres, such as the National Hospital for Neurology and Neurosurgery, where clinicians have experience in managing the condition. 

A diagnosis of BPAN can feel overwhelming, and families may have many questions about the future.

Organisations such as Action for BPAN provide support, information and opportunities to connect with other families. They also play an important role in funding and sharing updates on research.