A breakthrough clinical analysis has surfaced based on a case at Boston Children’s Hospital. The analysis reveals a host of patient undertakings that can be completed in less than one year. Specifically, this includes identifying a patient’s unique mutation, design customized drug to bypass mutation, manufacture and test the drug, and obtain permission from the FDA.
The case reported is based on a single-patient clinical trial. Moreover, the analysis reported is based on the case of a patient with Batten disease. Clinically, Batten is an uncommon, devastating neurodegenerative disease that progresses rapidly and is fatal. Batten disease of the order CLN7 does not have a treatment. In particular, the cause of disease for the patient under study is due to mutation unique to the patient.
The progression of the disease surfaced rapidly for the patient. It started with inward turning of the foot at age 3, progressing to stumbling, blindness, occurrence of seizures, loss of speech, and general developmental regression by the age of 6. Despite this, the patient displayed alertness, happiness, responded to favorite songs, people, and books, could consume pureed foods, and move with assistance.
Batten Disease related to Unique Mutation
Clinically, Batten disease of type CLN7 is recessive. The patient inherits a bad copy of CLN7 gene from each parent. Furthermore, for the patient under study, researchers could identify the mutation from the father, but not from the mother. In this quest to find the mutation, the mother of the patient sought to Facebook and reached out to a physician and a pathological lab that specializes in whole genome sequencing (WGS).
The team of physicians that took the case identified the mutation that became apparent only after examining the raw data. The mutation happened in the dark area of the genome that affects a regulatory piece of DNA.