FDA Permits Retrotrope’s Phase 2/3 Study of Infantile Neuroaxonal Dystrophy Drug Candidate

According to a press release from the California-based biotechnology company Retrotrope, Inc., the Company has completed recruitment for its upcoming phase 2/3 study of RT001, an experimental drug designed for the treatment of infantile neuroaxonal dystrophy.

About Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy (or INAD) is an extremely rare disorder that is genetically inherited. It is characterized by the often sudden regression of motor and acquired motor and intellectual function. Patients frequently are asymptomatic until they reach between 6 and 18 months of age. Affected individuals typically experience slowed motor and thinking skill development, followed by the loss of previously learned skills like walking or talking. Physical symptoms may begin with uncontrolled rapid eye movements, or squinting. Eventually, patients lose control of their voluntary muscles, which stiffen in a kind of paralysis. Eventually, affected individuals lose the ability to effectively sense their surroundings. Most do not live to be older than 10.

The condition is caused by recessive mutations to the gene PLA2G6, which in otherwise healthy individuals is responsible for the production of a type of enzyme called A2 phospholipase. Phospholipases A2 are enzymes that break down certain kinds of phospholipids (a kind of fat cell). The management of these fats is an important element of homeostasis, and a number of these enzymes play important regulatory roles — A2 phospholipase, for example, helps balance the phospholipid concentration present in cell membranes.

INAD is so rare because it’s inherited in a recessive manner — both parents must contribute mutated forms of the PLA2G6 gene. Most children with INAD are born to parents who are completely asymptomatic, each possessing only one mutated PLA2G6 gene instead of the two that lead to symptoms of INAD.

About RT001

The Food and Drug Administration has given Retrotrope its blessing to conduct an open-label, phase 2/3 study of RT001 in a small group of 15-20 patients. RT001 is a deuterated polyunsaturated
fatty acid, which means it’s a kind of artificially fortified fatty acid. These molecules can be useful for reducing oxidative stress. Some evidence suggests that lipid peroxidation (the degeneration of lipids when exposed to oxygen) could be a root cause in a number of serious neurodegenerative conditions, including INAD.

Preclinical studies of RT001 suggest that the drug may be effective in reducing high levels of lipid peroxidation. Retrotrope hopes that RT001 (and potentially other deuterated polyunsaturated
fatty acids) could help “fireproof” cell membranes against lipid peroxidation.


INAD is highly rare, but also often fatal. Are you encouraged by preclinical findings about RT001? Do you have high hopes for this drug ever reaching market? Share your thoughts with Patient Worthy!

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