In 2023, Marley Mansour of Rowlett, Texas and her family were told that Marley had an extremely rare genetic condition called NARS1 disorder. Now, Marley is the world’s first person to be treated for this rare disorder.

Marley’s family spent years searching for answers but were unable to find any. The family was told Marley’s disorder is rare and disrupts protein production which leads to various neurological and developmental challenges.

Kaitlin Batley M.D., Marley’s doctor, is an assistant professor of neurology and pediatrics at the Texas University Medical Center. Dr. Batley provided Medical Xpress with background information including the fact that less than 100 patients worldwide have been diagnosed with the disorder.

ASO: The Treatment

ASO is a genetic therapy derived from the name, antisense oligonucleotide therapy. The ASO therapy utilizes small synthetic DNA sequences (genes) that target mRNA.

ASO: The Company

N-Lorem, a nonprofit organization based in California, is assisting in the development of Marley’s personalized medicine. The newly-developed process targets Marley’s mutation and will correct the issue at the molecular level by examining the cells.

Dr. Batley explained that the ASO treatment is going to be administered to Marley via spinal tap. The treatment is designed to assist her body in the production of important proteins that will alleviate her difficulty communicating and her peripheral neuropathy.

Mutations in the NARS1 gene cause disruptions in the ability of the body to produce proteins and lead to symptoms that include delays in a person’s development, seizures, and facing motor skill challenges. Marley’s specific mutation produces a type of protein that is toxic according to Dr. Crooke. He went further by explaining that the ASO therapy is designed to target the defective RNA. This allows Marley’s healthy RNA to function properly.

Dr. Crooke founded n-Lorem to provide free individualized treatments for patients who have extremely rare conditions. By the year 2022 n-Lorem received and evaluated over 300 applications. Over 140  were accepted. Fifteen patients have been treated according to the company’s website.

Costs for Marley’s operation are estimated to be in the range of six figures. Although the treatment is covered for life, Dr. Crooke explained to the Dallas News that the Mansour family will be responsible for expenses related to clinical trials. The doctor further explained that although Marley’s therapy is applicable to her specific mutation, it provides a precedent related to other NARS1 patients who have similar genetic profiles.

More information: To help Marley’s family, visit their Support Now page at supportnow.org/marley-s-miracle