Category Archives: news

news


CoA-Z Trial Update

With the new year, we’d like to send an update on our progress with CoA-Z. In September, we told you that we had decided to set aside plans for further clinical trials with CoA-Z, instead focusing our efforts on compiling the necessary data to present to the FDA in order to gain approval to make […]

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Update to the PKAN Community on CoA-Z

At the NBIA Family Meeting in May and in our follow-up communication to CoA-Z study participants, we mentioned the possibility of our doing one or more short follow-up studies of CoA-Z to supplement our clinical trial data. After further data analysis and reflection, we have decided that our current data is strong enough to submit […]

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Statement about Rett syndrome medication

A new medication for Rett syndrome, called Daybue, was recently approved by the FDA. Since there are some clinical similarities between BPAN and Rett syndrome, including regression, seizures, intellectual disability, motor changes and certain repetitive behaviors, it is natural to wonder whether Daybue could help people with BPAN. We at OHSU continue to ask ourselves […]

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CoA-Z Clinical Trial Update

It’s hard to believe it, but the CoA-Z clinical trial started way back in December 2019 when we had no idea how much all our lives were about to be upended by a global pandemic. Many of you have reached out since then to ask for updates and to find out when results will be […]

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Update on BPAN

A scientific paper about BPAN recently published in the journal Autophagy has created some confusion within the community of BPAN families, friends, and caregivers. Entitled “WDR45, one gene associated with multiple developmental disorders,” the paper suggests that gene mutations in WDR45 lead to six separate disorders rather than just BPAN. As you can imagine, this […]

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A paper from the Sibon lab reveals important insights into biochemical changes in PKAN and related disorders

Dr. Sibon’s group in the Netherlands has published a paper that reveals important insights into the biochemical changes in PKAN and related disorders (CoPAN, MePAN and PDH-E2 deficiency). It reports work done largely by Roald Lambrechts (who just got his PhD yesterday!) and others in the Sibon lab. Dr. Sibon has also written a FAQs […]

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MEPAN Page Added to Website

Approximately two years ago, our team worked with researchers in Israel and several other countries to discover a new disease-causing gene called MECR. Mutations in this gene cause a condition that we named MEPAN, which stands for “mitochondrial enoyl CoA reductase protein-associated neurodegeneration.” Although MEPAN does not cause brain iron accumulation, both the symptoms and […]

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Searching for a Diagnosis using Whole Exome Sequencing

This article and other news can be found in the latest issue of our newsletter which can be downloaded/viewed here: August 2018. In 2014 the Hayflick lab started a project with the University of Washington to sequence DNA for our patients who did not yet have a genetic diagnosis. These 54 subjects had symptoms similar […]

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