Phelan-McDermid Syndrome

Phelan-McDermid Syndrome is a rare and complex genetic disorder that can profoundly impact every aspect of an individual’s life. It is characterized by developmental delays, intellectual disability, speech and motor impairments, and often, behavioral challenges. Individuals with Phelan-McDermid Syndrome may also experience seizures, autism spectrum disorder, and other health concerns. Without appropriate care and intervention, the syndrome can have a significant impact on a person’s ability to function independently and enjoy a high quality of life.

Advances in genetic research have led to a deeper understanding of Phelan-McDermid Syndrome, paving the way for more targeted therapeutic approaches. These treatments aim to address the genetic and molecular mechanisms underlying the condition, including the deletion or mutation of the SHANK3 gene. By focusing on these root causes, emerging therapies aim to improve developmental outcomes and enhance the daily lives of those living with the syndrome.

At iNGENū, we are dedicated to advancing research on Phelan-McDermid Syndrome. Through cutting-edge research and a patient-centered approach, our team of researchers and clinicians is working to accelerate the development of effective treatments that offer hope and better quality of life for individuals and families affected by this rare condition.

 

 

60%

of individuals with Phelan-McDermid Syndrome are also diagnosed with autism

 

 

85%

of of individuals with the syndrome experience significant speech and language delays

 

1 in 9

individuals with Phelan-McDermid Syndrome have a heart defect at birth





Our clinical team has over

120

years of combined clinical trial experience

Download Our Paper

Fill out this form to download our white paper on how to overcome the biggest obstacles in conducting a Phelan-McDermid Syndrome.

iNGENu CRO - Phelan-McDermid Syndrome

In light of the impact Phelan-McDermid Syndrome has on individuals and society as a whole, continued research efforts are crucial to improve diagnosis, treatment, and ultimately, patients' quality of life.

The development of clinical trial protocols that meet FDA approval standards is crucial for the success of new Phelan-McDermid Syndrome treatments.