RT001 Demonstrates Arrest of Disease Progression in 2 Patients with INAD


RT001 has demonstrated arrest of disease progression in 2 patients with infantile neuroaxonal dystrophy.

Retrotope, Inc. released new data at the Nationals Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit) pertaining to their candidate RT001, which demonstrated arrest of disease progression in 2 patients with infantile neuroaxonal dystrophy (INAD).

“INAD is a very rare disease—there are probably less than several hundred patients worldwide with the condition—and it’s a genetic disorder in which infants develop normally initially and then they begin to lose developmental milestones,” Mark G. Midei, MD, clinical and regulatory consultant for Retrotope, told Rare Disease Report® in an exclusive interview.

“A baby who may have been able to roll over or crawl suddenly loses that ability and it can happen a little bit later in their life, too,” he added. “A child that’s walking and maybe even talking begins to lose those abilities and then once that happens, it generally progresses rather unremittingly until, usually, the child will die an untimely death.”

To date, there is no treatment available for this disease that is effective in either arresting the progress of the disease or reversing its consequences, he added, and so, new, effective treatments are needed. Enter RT001.

RT001 is a first-in-class, deuterated polyunsaturated fatty acid, a new category of drugs, that works by integrating into mitochondrial and cellular membranes and stabilizing them. In our interview, Dr. Midei explained why the treatment is so unique (see video).

Through expanded access programs, 2 patients with INAD have been treated with RT001 thus far; the first patient began treatment in March 2017, while the second patient began in November 2017. Data pertaining to the first patient was previously presented at the American Academy of Neurology.

The data, according to Dr. Midei, has investigators enthusiastic about the treatment.

“First of all, we found that when it comes to the progress of the disease in these children—which is usually inexorably downhill—we’ve seen that RT001 has arrested some of the deterioration.,” he said. “We’ve also seen some actual improvements which is almost never seen with INAD; once the condition begins to accelerate we rarely see any kind of regression in the disease under normal circumstances.”

Specifically, improvements in bulbar function were noted by the investigators. The patients’ ability to swallow saliva strengthened, they were more interactive, and there was less spasticity in their limbs. Dr. Midei said that the team hopes that these advances will translate into improvements in other functional areas.

As for next steps, Dr. Midei and his team want to evaluate RT001 in a larger cohort of patients with INAD. As such, he told us that a more rigorous clinical trial will be launched within the next few weeks to see if the positive data observed in the 2 patients who received the treatment will translate to a larger group of patients.

“There are a lot of different conditions we think that this drug may be useful in and the problem with treating rare diseases is finding the patients and then trying to analyze the results of that because there’s not a lot of data on the natural history of some of these diseases,” he added. “Some of them have only been recognized for a few years.”

To this end, Dr. Midei pointed out that his team will also be using the treatment in other expanded access programs for other rare diseases, such as amyotrophic lateral sclerosis and Tay-Sachs disease (see video).

Previously, the US Food and Drug Administration granted an orphan drug designation to RT001 for the treatment of PLAG26-associated neurodegeneration, which includes INAD.

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