Caregivers of people with Phelan-McDermid syndrome and FDA discuss treatment potential


Today, the United States Food and Drug Administration (FDA) hosted a meeting for families of people living with a rare neurodevelopmental disorder to provide insight into the evolution of new treatment options for patients. The nonprofit organizations have combined efforts to plan this event in an effort to inform and educate the FDA and key stakeholders about the experience of caregivers and patients with Phelan-McDermid Syndrome (PMS) .

The Phelan-McDermid Syndrome Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting was sponsored by CureSHANK, a nonprofit organization focused on accelerating the development of treatments for conditions involving the HOCK gene family. The Phelan-McDermid Syndrome Foundation (PMSF), a non-profit organization whose mission is to improve the quality of life for those affected by the disease, co-planned the event.

Currently, the syndrome lacks FDA-approved treatments. In an email interview with HCP LiveShafali Jeste, MD, Division Chief of Neurology, Children’s Hospital of Los Angeles, and CureSHANK Strategic Advisor, explained that there is no standard of care because the goal is to provide comprehensive care for manage the different aspects of the disease.

“This would include, from a neurological perspective, screening for seizures and managing them if a child has seizures,” she wrote. “From a psychiatric perspective, if a child has behavioral issues, sleep issues, mood disorders, those are all things that we screen for and deal with.”

Jeste went on to explain that with Phelan-McDermid syndrome, the patient’s primary care physician (PCP) also plays a crucial role.

“Sometimes other medical issues can arise and we just need a good primary care provider to be able to find out what Phelan-McDermid is associated with and take care of those issues. I would say the most more important is to have a neurologist involved in care because there are so many neurodevelopmental issues associated with Phelan-McDermid,” she said.

When a patient is diagnosed with autism, intellectual disability or global developmental delay, the clinical approach depends on whether or not there is a genetic syndrome involved, according to Jeste.

“We know that when there is a genetic cause like Phelan-McDermid, patients are at higher risk for other neurological issues, especially seizures, so I think that changes how we would assess and manage,” said she explained. “If a child with Phelan-McDermid has funny spells and I’m not sure what they are, or shows regression or loss of skill, epilepsy is going to be at the top of my list, whereas that may not be the case with a child who does not have Phelan-McDermid.”

Although genetic screening at birth has allowed earlier diagnosis over the past 10 to 15 years, there are still cases that go undetected.

“I think when we make a Phelan-McDermid diagnosis in a child who has previously had a diagnosis of developmental delay or autism, it immediately allows the family to connect with other families with children who have the same diagnosis,” Jeste wrote. “If you look at the autism landscape, there are a million patient advocacy groups and there are so many different avenues they can turn to for resources, and it’s kind of overwhelming.”

“Once they have a Phelan-McDermid diagnosis, they can go to CureSHANK or the Phelan-McDermid Syndrome Foundation and connect with a much smaller, more focused group of people who are all facing similar challenges or follow similar courses of treatment,” she continued. “So that’s something that my patients have recognized as a really big benefit of getting a specific genetic diagnosis.”

CureSHANK President and Co-Founder Geraldine Bliss is a mother and caregiver to her son Charles who lives with PMS. Bliss also shared some insights in an email interview with HCP Live.

HCP Live: What are the most prevalent unmet needs in the PMS space?

Geraldine Bliss: There is a wide range of developmental and health issues in PMS. Most people with PMS have severe intellectual disability, which leads to a high level of dependency on caregivers for all activities of daily living. Autism and autistic features are prevalent in our community, and most people with PMS have extremely limited communication skills and often exhibit challenging behaviors including aggression and self-harm.

Epilepsy, gastrointestinal (GI) problems, and psychiatric illnesses are common, but there are often delays in diagnosing and treating these comorbid health conditions because the signs are confounded by the behavioral characteristics of PMS and because individuals cannot describe their symptoms.

The combination of severe intellectual disability, autism, and difficult medical conditions often prevents individuals and families from participating in social or recreational activities, contributing to isolation.

HCP Live: How are these comorbidities treated?

Happiness: Because we don’t yet have disease-modifying treatments for PMS, symptom-based management is how most comorbidities of PMS are treated. In the case of my own child, there was a lot of trial and error to find a combination of surgery, devices and medication to reduce his seizures. We hope that the research currently taking place in academic and industrial laboratories will soon lead to effective treatments for PMS.

Speech therapy, occupational therapy, and physical therapy are part of routine care for most people with PMS. Some people receive other types of therapy, such as hippotherapy, water therapy, or music therapy. Many people also receive applied behavior analysis (ABA) therapy, sometimes combined with relationship-based programs, such as Floortime, or as part of a school curriculum.

These therapies can be very effective in moving towards specific goals, but they are expensive and time-consuming and do not address the root cause of PMS.

An important initiative that CureSHANK has undertaken to help convey the high unmet need in PMS is the EL-PFDD meeting where members of our community will speak to the FDA and other stakeholders about the lived experiences of PMS. Caregivers will share the impacts of PMS on quality of life and their perspectives on current and future treatments.


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