According to a story from Scary Mommy, mother Sara McGlockin recently received devastating news: the drug that was successfully treating her five year old daughter Marian was being discontinued in six months. Marian lives with Niemann-Pick disease type C, and without access to the treatment, she would eventually die an early death. The drug, designated VTS-270 or adrabetadex, has allowed Marian to live a relatively normal life.
About Niemann-Pick Disease Type C
Niemann-Pick disease type C is a form of lysosomal storage disease which is characterized by a deficiency not in an enzyme, but most typically in a type of transporter protein that prevents water soluble molecules from moving within a cell. It is caused by mutations of either the NPC1 or NPC2 gene. There is a broad disparity in the severity and presentation of symptoms in Niemann-Pick disease type C, making symptoms an unreliable method for diagnosis. They may appear in childhood or as late as a patient’s sixth decade of life. Such symptoms include spleen and/or liver enlargement, jaundice, severe depression, ataxia, epilepsy, difficulty speaking and swallowing, dystonia, poor muscle tone, bipolar disorder, microcephaly, progressive loss of hearing, progressive dementia, and psychosis. Most treatment is supportive, but there are some medicines that can delay disease progression and prolong life. Lifespan is connected to the onset of symptoms, with those with the earliest symptoms usually dying sooner. To learn more about Niemann-Pick disease type C, click here.
Marian’s Story
Sara writes that her daughter Marian is full of life and dreams of a happy and prosperous future for herself. But without this drug, none of her aspirations will come true. The drug, which was developed by Mallinckrodt Pharmaceuticals, was first administered to patients in 2010. Through a compassionate use program, Marian began treatment with it at 19 months of age. The experience for her has been undoubtedly positive.
However, Mallinckrodt recently received a letter from the US Food and Drug Administration (FDA), which has concluded that the current data from trials is not sufficient to prove the drug’s effectiveness, despite the fact that some patients have used it successfully for years. They are calling for the company to conduct a further trial; unfortunately, Mallinckrodt has determined that an additional trial is not logistically feasible for them.
There are probably a total of 40 patients whose lives depend on access to adrabetadex. In the hope of saving their children as well as the future of this treatment, a group of patient mothers have established a GoFundMe to fundraise to help find a future for adrabetadex and the patients that have benefitted from it. Click here to support the effort.
