"Neuren Pharmaceuticals initiated this landmark PMS prevalence study in collaboration with the Seaver Autism Center at Mount Sinai and CureSHANK because, with new treatments moving closer to reality, identifying these individuals has become an ethical imperative," said Rachel Groth, PhD, Head of External Innovation and Patient Advocacy at Neuren Pharmaceuticals. Dr. Groth pointed out that the development of new drugs is only half the battle. "Patients cannot benefit from these advances if they never receive a diagnosis. We have a responsibility to ensure that the science of treatment is matched by the science of identification."
New Treatments Are Moving Into Clinical Trials
The publication of these findings comes at a pivotal moment for the Phelan-McDermid syndrome community. The research landscape has shifted from basic discovery to active clinical intervention. Several clinical trials are now underway, including precision medicine approaches that aim to address the specific biological pathways disrupted by SHANK3 mutations. These trials represent a new era of hope for families, moving away from generalized symptom management toward therapies that could potentially modify the course of the disorder.
For individuals with the condition and their families, receiving a genetic diagnosis is becoming increasingly transformative. In the past, a diagnosis might have provided a name for a condition but offered few practical changes in care. Today, however, a diagnosis of Phelan-McDermid syndrome can open doors to specialized medical protocols, enrollment in cutting-edge research studies, and participation in clinical trials for emerging medications. It also connects families to robust patient support networks where they can share experiences and resources with others facing similar challenges.
"This study confirms what many families, clinicians, and advocates have suspected for years," said CureSHANK Board Chair, Geraldine Bliss. "There are likely tens of thousands of individuals with Phelan-McDermid syndrome who have never received a genetic diagnosis. At a time when multiple therapeutics are advancing into clinical trials, finding these individuals has never been more important."
The results of the study also reinforce the mission of CureSHANK to expand global access to genetic testing. The organization is a vocal supporter of the "Start Genetic" campaign, an international awareness initiative that encourages patients, families, healthcare providers, and advocacy groups to prioritize genetic investigation early in the diagnostic process. The campaign’s core message—to "think genetic first"—is designed to bypass the traditional delays in diagnosis that have left so many individuals without the specialized care they require.
Ultimately, the study serves as a reminder that the success of precision medicine is entirely dependent on the accuracy of patient identification. As researchers at Mount Sinai and their partners continue to unravel the complexities of the SHANK3 gene, the focus remains on ensuring that the 45,000 Americans estimated to have the condition are given the opportunity to benefit from the next generation of medical breakthroughs. The broader message from the Seaver Autism Center is clear: while Phelan-McDermid syndrome may be rare, it is far more prevalent than the world realized, and every undiagnosed individual represents a missed opportunity for life-changing intervention.
