Families of Those Living with a Severe Neurodevelopmental Disorder to Provide Perspective to FDA to Help Expedite New Treatments

Families of Those Living with a Severe Neurodevelopmental Disorder to Provide Perspective to FDA to Help Expedite New Treatments




Families of Those Living with a Severe Neurodevelopmental Disorder to Provide Perspective to FDA to Help Expedite New Treatments

The Phelan-McDermid Syndrome Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting will be held virtually on November 8 from 10 a.m. to 3 p.m. ET

LOS ANGELES–(BUSINESS WIRE)–Families of loved ones living with Phelan-McDermid syndrome (PMS) will inform and educate the U.S. Food and Drug Administration (FDA) and other key stakeholders about the patient and caregiver experience during an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting on November 8. The meeting is sponsored by CureSHANK, a nonprofit organization singularly focused on accelerating the development of treatments for PMS and other disorders related to the SHANK family of genes, and co-planned with the Phelan-McDermid Syndrome Foundation (PMSF) a nonprofit organization with the mission to improve the quality of life of all those affected by PMS by providing family support, accelerating research, and raising awareness.

“This EL-PFDD meeting is an indispensable part of CureSHANK’s mission to overcome critical barriers to the development of successful treatments for PMS,” said CureSHANK President Geraldine Bliss. “The more the FDA and other stakeholders understand the patient perspective, the more quickly treatments that make a difference to those in the PMS community will be brought to those living with this profoundly debilitating genetic condition.”

For additional information on the EL-PFDD including access to the live discussion with the FDA on November 8, please visit: https://www.cureshank.org/elpfdd-meeting.

Currently, no treatments for PMS are approved by the FDA. PMS is a rare genetic condition caused by deletions or mutations of the SHANK3 gene. Patients with PMS experience significant intellectual disability and are monitored for management of multiple devastating developmental and medical conditions, which can include epilepsy (often refractory); mood disorders (ranging from anxiety to various forms of catatonia); hypotonia; sleep disturbances; regressions or failure to retain skills; gastrointestinal dysfunction; fine and gross motor deficits; and severe expressive and receptive language deficits.

PMS is also among the most common causes of autism. Researchers estimate that it occurs in about 1% of individuals with autism and 2% of those with both autism and intellectual disability. As one of a few known monogenic (single-gene) causes of autism, PMS provides insights into the underlying biology of severe forms of autism and approaches to treating them.

EL-PFDD meetings are a part of the FDA’s Patient-Focused Drug Development (PFDD) program, which aims to systematically obtain the patient perspective on specific diseases and their treatments. “This meeting is exciting because it will result in a tangible record of the patient voice, which can be used as a guide for pharmaceutical companies looking to apply to the FDA to launch clinical trials,” said Kate Still, PhD, Scientific Director at PMSF. “The hope is that we will see a real shift in the design of clinical trials towards focusing more on the symptoms, assessments, and challenges that matter most to families.”

Topics shared at EL-PFDD meetings include the symptoms patients find the most challenging; the impact of the disease on patients’ daily lives; and patients’ experiences with currently available treatments—or struggles due to their unavailability. This input helps inform the FDA’s decisions and oversight both during treatment development and during the agency’s review of marketing applications.

In addition to all families impacted by PMS, other stakeholders – including medical product developers, health care providers, and federal partners – are encouraged to attend the EL-PFDD meeting on November 8.

“CureSHANK’s Board appreciates the relationships that have helped make this EL-PFDD possible: our partnership with the Phelan-McDermid Syndrome Foundation, as well as industry sponsorships, which to date include Jaguar Gene Therapy and Neuren Pharmaceuticals,” added Ms. Bliss.

About CureSHANK

CureSHANK was founded in 2019 by Geraldine Bliss, Abby Lievense and Paulina Rychenkova, each the parent of a child living with PMS. A 501(c)(3) nonprofit organization, CureSHANK identifies and funds projects that overcome critical barriers to successful drug development and coordinates scientific efforts to improve efficiency and speed in the field. The nonprofit’s other projects include the CureSHANK Biomarkers and Outcome Measures Consortium, the PMS Conceptual Model, and the CureSHANK Real Family Stories video series.

About Phelan-McDermid Syndrome Foundation

The Phelan-McDermid Syndrome Foundation (PMSF) is a 501(c)(3) nonprofit organization founded in 2002 comprised of a diverse network of directors, advisors, staff members, and community volunteers with the mission to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research, and raising awareness. Current and recent projects include an ICD-10 proposal for PMS, funding neuropsychiatric illness research, the CANDID consortium on GI dysfunction, and the PMS DataHub.

Contacts

CureSHANK
Abby Lievense

abby@cureshank.org

Media
Matt Wright

mwright@realchemistry.com