Top 5 Rare Disease News of the Week—July 15, 2018

#5 Blood Test May Predict Tumor Metastasis in Head and Neck Cancers

According to the National Institutes of Health’s (NIH) National Cancer Institute, head and neck cancers make up about 4% of all cancer cases in the United States. Individuals who have been diagnosed with head or neck cancer are at greater risk of developing secondary cancer, such as in the esophagus or lungs, and the chance is higher for those who consume tobacco or alcohol products.

Just who is at risk for developing secondary cancers, or distant metastasis, has been the focus of researchers from Australia’s Queensland University of Technology. In a recent study published in the journal Nature Scientific Reports, the researchers say they’ve found that a simple liquid biopsy using blood samples may help predict which head and neck cancer cases may spread. In a study of 60 patients with head and neck cancers, the research team examined blood samples containing clusters of circulating tumor cells (CTCs) – which are shed from primary or secondary tumors and then circulate in patients’ blood – using a device developed by the team to separate single CTCs and CTC clusters from the blood of cancer patients.

Read more about the study evaluating blood tests as a predictor for head and neck cancers.

#4 Study to Assess Safety & Efficacy of Cannabidiol in Children with Fragile X Syndrome

A genetic condition that typically affects males more than females, fragile X syndrome (FXS) is a rare disease caused by damage to the FMR1 gene located on the X chromosome, which, in turn, fails to produce the protein it typically makes. The rare disease is characterized by a host of neurological deficits, such as seizures, along with developmental, intellectual, and social disabilities.
Currently, there is no specific treatment for the disease; as such, management of the condition is usually more supportive rather than curative. However, now, a new pivotal clinical trial aims to evaluate the safety and efficacy of a cannabidiol (CBD) gel developed by Zynerba Pharmaceuticals to treat the debilitating behaviors associated with the disease.

Read more about the CBD gel, ZYN002, for the treatment of fragile X syndrome.


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