In a news release from May 3rd, 2022, rare disease and cancer therapeutic development company DepYmed Inc. shared that its lead PTP1B inhibitor, designed to treat Rett syndrome, was granted both Orphan Drug and Rare Pediatric Disease designation from the FDA. On its webpage, the company explains that MECP2 mutations cause Rett syndrome. Since MECP2 normally suppresses the expression of PTP1B, and the balance is thrown out of whack when mutations occur, PTP1B inhibitors help to restore normal signaling.
In the past, some researchers and scientists have worked to develop effective inhibitors for PTP1B and other enzymes which play a role in cellular signaling. However, these have largely failed. Therefore, if this inhibitor is successful, it could potentially fill an unmet need for patients and families.
For now, the company looks forward to completing more research and clinical studies moving forward.
Regarding the Designations
So, you might be wondering what Orphan Drug and Rare Pediatric Disease designations are. Let’s unpack these below.
Orphan Drug designation is granted by the FDA to drugs or biologics intending to treat, diagnose, or prevent rare diseases or conditions. These are conditions affecting under 200,000 Americans. Alongside this designation comes a variety of benefits for the drug developer, including fee waivers, tax credits, increased regulatory assistance, and seven years of market exclusivity upon approval.
Alternately, Rare Pediatric Disease designation is granted to drugs or biologics designed to treat serious or life-threatening illnesses in pediatric patients (aged 18 or under). This designation also comes with a benefit for the drug developer. In this case, the developer is given a voucher which can be used, in another marketing application, for Priority Review.
About Rett Syndrome
Rett syndrome is a rare and progressive neurodevelopmental disorder. Most children with Rett syndrome have some sort of genetic mutation on the X chromosome; in fact, there are over 900 MECP2 mutations associated with this condition. Typically, these mutations occur spontaneously and are not inherited. Rett syndrome primarily affects female infants. Symptoms, which usually manifest between 6-18 months following birth, can include:
- Slowed brain growth and microcephaly
- Loss of speech and purposeful hand movement
- Poor muscle coordination
- Social anxiety or irritability
- Scoliosis
- Sleep disturbances
- Developmental regression
- Difficulty feeding or swallowing
- Uncoordinated breathing
- Seizures
Learn more about Rett syndrome.
