Funding Opportunities

PMSF Research Grants Program

PMSF established a research grants program in January 2023 to provide funding to highly motivated scientists studying Phelan-McDermid syndrome. Our goal is to accelerate groundbreaking clinical research that aligns with community interests. We have received research proposals from scientists around the world, and the number and quality of submissions consistently surpass expectations, making the selection process highly competitive. Each grant proposal undergoes a rigorous review by scientific advisors and invested family members to determine the winners.
 

2024 PMSF Funding Opportunities

PMSF is continuing the grants program in 2024 with several open application categories. 

Key dates apply to all grants:

  • RFAs released: Jan 19, 2024
  • Letter of intent deadline: March 1, 2024 midnight ET
  • Full application deadline: April 5, 2024 midnight ET
  • Announcement of award: ~August 2024

Notes:

  • Each investigator/lab team can only apply to one PMSF grant type per year.
  • International applicants welcome to apply.

2024 PMSF Innovation Award (Early Career Investigator)

We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome research. Successful proposals will open new avenues of research in the field. Applications with clinical relevance will be preferred. Applications can be focused on any topic, but areas of special interest to families include: research across other neurodevelopmental disorders, development of tools for monitoring or managing symptoms, peripheral nervous system studies, identification of new drug candidates, implication of new cell types, and understanding of genes aside from SHANK3.

Project feedback can be requested by email to info@pmsf.org but no guarantee of funding can be made.

2024 PMSF Translational Research Award

We are seeking grant applications which bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments for Phelan-McDermid syndrome. Example areas of interest include but are not limited to: follow-up characterization studies to drug screens, cross-disorder clinical approaches, funding for remaining experiments before solidifying a pharmaceutical relationship, and adjustment of assessments or the development of new assessments which more accurately measure Phelan-McDermid syndrome phenotypes. Applications with clinical relevance will be preferred.

Project feedback can be requested by email to info@pmsf.org but no guarantee of funding can be made.

2024 PMSF Shannon O’Boyle Memorial Grant – Neuropsychiatric Illness

The PMSF Board of Directors has established an annual research grant of $100,000 in honor of Shannon O’Boyle and to acknowledge her family’s significant contributions. The grant will be used to advance research in neuropsychiatric illnesses and to keep Shannon’s legacy alive by inspiring and offering hope to all.

A successful proposal will advance research in either neuropsychiatric illness, challenging behaviors, or skill regression in Phelan-McDermid syndrome. Proposals can include foundational basic research in laboratory models or highly clinical studies in people with Phelan-McDermid syndrome.

Project feedback can be requested by email to info@pmsf.org but no guarantee of funding can be made.

2023 PMSF Grant Program Recipients

2023 Neuropsychiatric Illness and Regression Fellowship (in partnership with the Developmental Synaptopathies Consortium)

Data has emerged that a subset of individuals with Phelan-McDermid syndrome (PMS) experience devastating psychiatric symptoms, such as regression, bipolar disorder, and catatonia. The goal of this fellowship is to deeply characterize these psychiatric symptoms, refine guidelines, and/or explore their biological underpinnings. The fellow should have a clinical background in psychiatry or neurology and will work within the NIH-funded Developmental Synaptopathies Consortium (DSC), a Rare Disease Clinical Research Network. The training environment will include access to leaders in the field with a pre-established infrastructure for recruiting and phenotyping large numbers of individuals with Phelan-McDermid syndrome.

AWARD WINNER:
 “Investigating Immune and Autoimmune Mechanisms of Neuropsychiatric Decompensation in Phelan-McDermid Syndrome”
Milena Andzelm, MD, Ph.D., Boston Children’s Hospital – Principal Investigator (PI) - primarily responsible
Siddharth Srivastava, MD, Boston Children’s Hospital – Mentor – helps guide the PI
Tesi Kohlenberg, MD - consultant - provides expertise
Project Abstract:
A subset of individuals with PMS develop serious neuropsychiatric illness (SNPI) in their teens or twenties, and about half with SNPI have new lasting loss of skills (regression). PMS patients with SNPI are hard to treat with psychiatric medications, and some have responded to treatments that target the immune system. This fact, combined with the knowledge that SHANK3 is present in an organ of the immune system (the thymus) has led to interest in understanding whether people with PMS –particularly those with SNPI — have underlying differences in their immune system that might guide treatment. This study will explore these questions as follows: Families whose children are over age 10 will fill out three online questionnaires, one on psychiatric symptoms, one on loss of skills, and one on family history of autoimmune disease. These will be scored to determine which have SNPI. Participants will be invited to have their child’s blood drawn for immune studies and to consent to a review of their child’s medical records to examine studies already done. This will allow us to compare those with and without SNPI. Families whose children have lumbar punctures as part of their current medical care will be asked to donate a sample of the spinal fluid for state of the art studies of brain inflammation. Results of standard lab tests will be shared with participants’ doctors, and the analysis of the study measures will provide rich information on the role of the immune system.

2023 PMSF Innovation Award

For highly novel grant applications that explore an understudied area of Phelan-McDermid syndrome (PMS) research. Successful proposals will open new avenues of research in the field. Applications with clinical relevance will be preferred.

AWARD WINNER:
 “Precision treatment for Phelan-McDermid syndrome” A novel pre-clinical approach”
Bridgette Moffitt, Ph.D., Clemson University – Principal Investigator (PI) - primarily responsible
Luigi Boccuto, MD, Clemson University – Mentor – helps guide the PI
Sara Sarasua, Ph.D., Clemson University – Co-Investigator (Co-I) – provides value to the application but does not take on responsibility for the research
Project Abstract:

Phelan-McDermid Syndrome (PMS) is characterized by intellectual disability, autistic features, developmental delays, and neonatal hypotonia. The way signs and symptoms present may change extensively from one person with PMS to another. This makes designing treatment approaches very difficult. Several clinical trials have used Insulin-like Growth Factor 1 (IGF-1) and human growth hormone (hGH) to improve the neurological symptoms in PMS. We wanted to see how IGF-1 and hGH could help people with PMS, so we looked at the way cells from individuals with PMS change their metabolism when exposed to these compounds. Our goal was to identify individuals who would benefit more from the treatment. Based on their different responses to IGF-1 and hGH, we placed people with PMS into distinct subgroups. The purpose of this study is to apply the same approach to other compounds used for clinical trials in PMS. Our study aims to (1) study the response of cells from individuals with PMS to candidate treatments and (2) identify subgroups in the PMS population that will potentially respond better or worse to the selected compounds. The classification of individuals with PMS into subgroups based on responses to candidate treatments meets several objectives. It allows for future investigations into possible causes of differences in the presentation of PMS features, explores the response to candidate drugs at the cellular level, and potentially offers a better selection of the people who could benefit the most from clinical trials, reducing their risk of adverse effects.

2023 PMSF Translational Research Award

For grant applications that bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments for Phelan-McDermid syndrome (PMS). Example areas of interest include but are not limited to follow-up characterization studies to drug screens, cross-disorder clinical approaches, funding for remaining experiments before solidifying a pharmaceutical relationship, and adjustment of assessments or the development of new assessments which more accurately measure Phelan-McDermid syndrome phenotypes. Applications with clinical relevance will be preferred.

AWARD WINNER:
 “Validation of a Novel, Inexpensive, Home-Based Gastrointestinal Transit Test among People with Phelan-McDermid Syndrome”
Julia Dallman, Ph.D., University of Miami – Principal Investigator (PI) - primarily responsible
Calliope Holingue, Ph.D., Kennedy Krieger Institute – Co-PI – shares equal responsibility with PI
Baharak Moshiree, MD, Atrium Health – Co-PI – shares equal responsibility with PI
William Bennett, MD, Indiana University – Co-PI – shares equal responsibility with PI
Barbara Millet, Ph.D., University of Miami – Co-Investigator (Co-I) – provides value to the project but is not primarily responsible for the project
Project Abstract:

Gastrointestinal (GI) symptoms are common and negatively impact quality of life among people with Phelan-McDermid Syndrome (PMS). These symptoms include constipation, which may be related to altered movement of the gut called motility. Current GI motility tests are difficult to do in people with PMS. We have developed an alternative objective measure of GI transit: muffins with blue dye and a mobile app allow caregivers to track GI transit time at home. Pilot data show this test works as intended; individuals eat the muffins and transit times are captured by observing the blue color in poop. The goal of this proposal is to improve this inexpensive GI transit test for larger studies. In Aim 1a, we will work with PMS caregivers to make the mobile app easier to use. In Aim 1b, we will conduct the blue dye test among up to 75 people with PMS. We will also collect a detailed history of constipation and other GI symptoms, genetic diagnoses, and previous GI testing to assess whether the blue dye test is measuring what it’s supposed to measure. In Aim 1c, participants will complete the blue dye test a second time (14-30 days later) to test how transit time changes over time. Participants with feeding tubes (30/75) will do a modified version of the test by mixing blue dye into their standard feeding formula. This remote-based study would provide families an objective measure of GI transit that they can do at home to help manage symptoms.