RT001 Granted Rare Pediatric Disease Designation for INAD, FA

In a press release from late February 2021, biopharmaceutical company Retrotope shared that its lead drug candidate, RT001, received Rare Pediatric Disease designation for the treatment of patients with Friedreich’s ataxia (FA) and infantile neuroaxonal dystrophy (INAD). This offers an opportunity for Retrotope to continue developing RT001 and fill an unmet need in these patient communities.


So what is RT001? Neurology Live explains the therapy as:

a chemically stabilized fatty acid [linoleic acid] that incorporates into mitochondrial and cellular membranes and, in turn, stabilizes them. The patented, first-in-class, orally available isotopic-reinforced polyunsaturated fatty acids (D-PUFA) has been shown to decrease levels of lipid peroxidation in PSP patient mesenchymal stem cells, as well as restore mitochondrial function and structure to damaged cells.

That’s right — RT001 is not just being explored as an option for patients with FA and IND, but also for patients with progressive supranuclear palsy (PSP). In fact, it received Orphan Drug designation in both Europe and the United States, as well as Fast Track designation. These designations cover a variety of conditions.

Retrotope discovered RT001 using the company’s proprietary drug discovery technology. Through the platform, Retrotope works to combat oxidative stress and cellular degeneration caused by lipid peroxidation. When this peroxidation is not balanced, it can cause a number of degenerative disorders. RT001 is able to protect against degeneration by balancing LPO. Over 100 patients have received RT001 so far. Currently, Phase 2/3 clinical trials are being held to evaluate the safety, efficacy, and tolerability of RT001 for patients with FA or INAD.

The most recent designation (Rare Pediatric Disease) is given by the FDA to drug candidates or biologics designed to address serious, rare, or life-threatening conditions which affect less than 200,000 pediatric patients within America. In this case, “pediatric” refers to those under the age of 18.

Friedreich’s Ataxia (FA)

Friedreich’s ataxia, which may also be referred to as Friedreich ataxia, is a rare genetic disorder caused by FXN gene mutations. Normally, FXN helps to produce fraxatin, a protein which plays a role in mitochondrial health and function. In turn, this provides your energy. A fraxatin deficiency causes neurological and movement problems. In most cases, symptoms onset appears between 5-15 years old. An estimated 1 in every 40,000 Americans has FA. As the condition progresses, patients may first experience slowed movement and slurred speech. At some point, individuals may require a wheelchair for mobility. Symptoms include:

  • Diabetes
  • Scoliosis (the abnormal curvature of the spine)
  • Poor movement coordination
  • Slurred speech
  • Hearing loss
  • Vision changes
  • Chest pain
  • Shortness of breath and/or difficulty breathing
  • Involuntary eye movements
  • Fatigue
  • Cardiac arrhythmias
  • Clubfoot or other foot deformities

Infantile Neuroaxonal Dystrophy (INAD)

Infantile neuroaxonal dystrophy (INAD) is an incredibly rare genetic and neurological disorder. In INAD, PLA2G6 gene mutations cause phospholipids to build up in the axons. Normally, the axons help carry messages from the brain to other parts of the body. But as this condition progresses, affected individuals experience motor, developmental, and intellectual regression. Many symptoms appear within 6 months to 2 years and progressively worsen. Currently, there is no cure, nor is there a treatment to halt the disease progression. As a result, INAD is typically fatal within the first few years of life.

Symptoms and characteristics include:

  • Crossed eyes
  • A prominent forehead
  • A small nose and jaw
  • Large, low ears
  • Low muscle tone
  • Seizures
  • Difficulty swallowing
  • Vision loss
  • Loss of ability to walk, crawl, sit, or speak
  • Involuntary eye movements
  • Muscle spasticity (stiffness)
  • Dementia
  • Loss of head control
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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