Neurodegeneration with brain iron accumulation 5
MONDO:0010476Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Also known as: BPAN, NBIA5, SENDA, WDR45 neurodegeneration with brain iron accumulation, beta-propeller protein-associated neurodegeneration, neurodegeneration with brain iron accumulation 5, neurodegeneration with brain iron accumulation 5, X-linked dominant, neurodegeneration with brain iron accumulation caused by mutation in WDR45
17 clinical trials for this condition and its sub-types, 4 tagged with Neurodegeneration with brain iron accumulation 5 itself.
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BPAN cell stress study completed: no treatment tested
Knowledge-focused CompletedThis study looked at cells from 21 people with BPAN, a rare brain disease caused by a gene mutation. Researchers wanted to see if the cells have trouble handling stress, which might explain why brain cells die. No treatment was given; the goal was simply to learn more about the d…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC