Convos with Dr. Kate Phelan-McDermid Syndrome Foundation

Kate engages Dr. Luigi Boccuto, Associate Professor at Clemson University, about his work studying genes other than SHANK3 and their impact in Phelan-McDermid syndrome. They highlight a recent publication authored by Dr. Boccuto, Dr. Andy Mitz, and Dr. Audrey Thurm, linked below. Dr. Boccuto describes how multiple genes in the 22q13 region, when altered, can have overlapping impacts on neurodevelopment. Understanding the importance of each of these genes can help improve the management and treatment of Phelan-McDermid syndrome long-term as clinical care moves more towards personalized medicine. 



Publication link:

https://onlinelibrary.wiley.com/doi/10.1111/cge.14503

This month we feature three representatives from Neuren Pharmaceuticals to answer frequently asked questions about the recent Phase 2 clinical trial, and plans for a Phase 3. Larry Glass, Neuren’s Chief Science Officer provides an insightful breakdown of NNZ-2591, the drug that was being tested. Additionally, Liza Squires, Chief Medical Officer, and Nancy Jones, VP of Clinical Development, offer an overview of the safety, tolerability, and efficacy results.



Important links:

Phase 2 top line results:

https://pmsf.org/document/neuren-phase-2-trial-investor-presentation/?fbclid=IwAR2ytXd7HXVfjJ9hFxwUVlVgJvI_KkczBTpGJCNUOMLTzgUAI6lPy1ZZO9g



Phase 2 inclusion and exclusion criteria

https://clinicaltrials.gov/study/NCT05025241?cond=Phelan-mcdermid%20syndrome&term=NNZ-2591&rank=1#participation-criteria

Kate chats with Dr. Tony Persico, an Italian clinician and researcher who recently ran a clinical trial testing metabolic support therapy for Phelan-McDermid syndrome. This therapy is an antioxidant/vitamin combination consisting of Coenzyme Q10, Vitamin E, and Polyvitamin B. They discuss the rationale, the study design, positive results, potential side effects, access for families, and next steps. 

Learn more about the study here: https://www.oaepublish.com/articles/rdodj.2023.08

Dr. Tony Persico is an active member of the Italian Association for Phelan-McDermid syndrome and the Neuropsychiatric Consult Group.

Kate interviews Carla D’Imperio, fellow PMSF staff member and Family Support Specialist, on a program she leads to support mental health for Phelan-McDermid syndrome caregivers. This program, called Caregiver Support Groups, was started last year with funding from Global Genes and is continuing into 2024. Carla explains the decision to start this program and the positive impact it has made in the community. She delves into the importance of having licensed professionals lead these sessions. And she describes which groupings are offered, how to sign up, and how the program is changing over time. International families are welcome to join and the program is free to families.

For more information or to sign up, see: https://pmsf.org/caregiver-support-groups/.

Kate sits down with Dr. Zigler, Associate Professor at Duke University, to discuss her efforts to more accurately capture communication in Phelan-McDermid syndrome and other neurodevelopmental disorders. The goal is to have a clinical assessment that better measures communication progress - for families, and for clinical studies and trials. With funding from the FDA, Dr. Zigler is adapting a current communication measure, the ORCA. Kate asks what the ORCA is, why it is being adapted, what's been done so far, and how families can play a role.

Kate engages Dr. Thomas Bourgeron, genetics expert, PMSF Scientific Advisory Committee member, and longstanding researcher in Phelan-McDermid syndrome. They discuss the importance of studying genetics to better understand disorders like Phelan-McDermid and autism. Dr. Bourgeron explains that in the early 2000’s, his lab and others identified a link between the SHANK3 gene and the occurrence of autism. He then explains the scientific journey - from identifying a gene of interest, to testing therapeutics in lab models, and describes a current clinical trial for lithium ongoing in France. He also summarizes his top goals for future research in Phelan-McDermid syndrome.



A PMSF blog post on SHANK3 genetics: https://pmsf.org/shank3-in-phelan-mcdermid-syndrome/

A PMSF blog post on Phelan-McDermid syndrome versus autism: https://pmsf.org/phelan-mcdermid-syndrome-and-autism/