Phelan-McDermid Syndrome Foundation

What Phelan-McDermid Syndrome Foundation does

The Phelan-McDermid Syndrome Foundation (PMSF) is a 501(c)(3) nonprofit organization founded in 2002 and headquartered in Osprey, Florida (incorporated in South Carolina), serving individuals and families affected by Phelan-McDermid syndrome (PMS), a rare genetic disorder affecting approximately 1 in 10,000 births. The foundation organizes its work around three pillars: Connect (family support including online caregiver support groups, a First 100 Days program for newly diagnosed families, regional representatives, and peer storytelling), Care (medical education, multidisciplinary PMS clinics starting with Cincinnati Children's, and a neuropsychiatric ECHO consultation group), and Cure (research funding, the PMS DataHub patient registry, clinical trial recruitment, FDA engagement, and ICD code pursuit). Its core technology asset is the PMS DataHub, a voluntary, consent-based patient registry aggregating genetic and clinical data from registered families in English and Spanish, supplemented by the PMS International Registry (PMSIR) hosted on Patient Crossroads.

PMSF operates a community-led, donation-driven business model. Revenue is generated through individual donations (including a signature Giving Tuesday campaign that has surpassed $77K), peer-to-peer family fundraisers (e.g., $21K+ per event), membership (free via Neon CRM, with optional financial contributions), branded merchandise sales through Bonfire, and biennial international family conferences featuring tiered sponsorship packages (presenting, platinum, gold) sold to biotech and pharmaceutical companies active in PMS drug development. The foundation has 11-50 employees, a Charity Navigator 4-Star rating, and operates with global reach despite no publicly disclosed revenue figure. Named industry partners include Neuren Pharmaceuticals, Jaguar Gene Therapy, PYC Therapeutics, and Longboard Pharmaceuticals, while academic collaborators span Yale, McGill, Mount Sinai Seaver Autism Center, Cincinnati Children's, University of Miami, and Atrium Health. PMSF's strategic positioning is that of a comprehensive ecosystem owner for an ultra-rare disease, capturing nearly all diagnosed families globally and serving as the indispensable patient-recruitment and data infrastructure layer for the emerging PMS therapeutic pipeline.

Name

Phelan-McDermid Syndrome Foundation

Legal name

Phelan-McDermid Syndrome Foundation

Website

https://pmsf.org

Company type

Private

Founded year

2002

Operating status

Operating

Headcount range

11–50 employees

Short description

The Phelan-McDermid Syndrome Foundation is a 501(c)(3) nonprofit that supports families affected by Phelan-McDermid syndrome through caregiver programs, multidisciplinary clinics, and the PMS DataHub patient registry, while accelerating research via grants, FDA engagement, and biotech partnerships for an ultra-rare genetic disorder affecting ~1 in 10,000 births.

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy

NAICS

Individual and Family Services (6241), Voluntary Health Organizations (813212), Other Individual and Family Services (624190), Services for the Elderly and Persons with Disabilities (624120)

SIC

Services-Social Services (8300), Services-Membership Organizations (8600)

akta.pro primary industry

Rare Disease & Special Needs Support Organizations (BPAGACAM)

akta.pro secondary industries

Disability Services & Independent Living Support (BPAGACAG), Family & Parenting Support Services (BPAGAEAC), Youth Mental Health, Counseling & Wellbeing (Education-Linked) Nonprofits (BPAGADAK)

Keywords

• Rare disease advocacy
• Patient registry services
• Family support programs
• Genetic disorder research
• Nonprofit health foundation

Headquarters

HQ city

Osprey

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Operations, Marketing or Sales, Technology or R&D, Others

Revenue model

1. Individual Donations: The foundation raises funds through direct donations via its website (donate.pmsf.org), including a Giving Tuesday annual campaign and one-time/matching gift programs.
2. Membership Dues: Families and supporters can join the community through a free membership (via Neon CRM), with the option to contribute financially.
3. Merchandise Sales: PMSF operates an online store via Bonfire selling branded merchandise (e.g., Phelan Lucky T-shirts) to raise funds.
4. Conference & Event Revenue: The biennial family conference and 2026 conference sponsorship packages generate revenue from sponsors (presenting, platinum, gold tiers) and registration fees.
5. Family Fundraising: Individual families conduct fundraising events (e.g., Team Matthew Luis annual fundraiser) that benefit PMSF, raising over $21,000 per event.

Pricing tiers

Go-to-market motion1 record

Distribution channels6 records

Marketing channels13 records

Core offering

The Phelan-McDermid Syndrome Foundation is a 501(c)(3) nonprofit that provides direct family support, medical education, and research-acceleration services for individuals affected by Phelan-McDermid syndrome and their caregivers. It operates the PMS DataHub and PMS International Registry patient platforms, funds research grants, runs caregiver support programs and regional representatives, organizes the biennial family conference, and manages the ECHO neuropsychiatric consultation group.

Product overview

The Phelan-McDermid Syndrome Foundation is a patient advocacy organization offering a portfolio of support services and data platforms rather than a commercial software product. Core offerings include the PMS DataHub (a patient registry collecting genetic and medical data for research), the PMS International Registry (PMSIR, a voluntary patient registry), research grant funding programs, and family support services including caregiver support groups, regional representatives, and educational resources. The foundation also organizes biennial family conferences and provides clinical trial information and neuropsychiatric consultation services. The organization does not offer a traditional SaaS product or technology platform with integration capabilities.

Differentiator

Problem solved

Functional benefit

Products and services

• PMS DataHub Centralized patient registry and data platform that aggregates genetic information and medical reports from PMS families to advance research and clinical trials; available in English and Spanish with voluntary, consent-based enrollment.
• PMS International Registry (PMSIR) Voluntary, anonymous international patient registry that collects information about individuals with Phelan-McDermid syndrome to help researchers and clinicians understand the condition better.
• Research Grants Program Foundation-funded research grants supporting scientific investigation into Phelan-McDermid syndrome treatments and cures, open to academic and industry researchers.
• Family Support Programs Comprehensive support services for families and caregivers of individuals with PMS, including caregiver support groups, the First 100 Days program for newly diagnosed families, regional representatives, and family stories.
• 2026 Family Conference Biennial international conference bringing together families, researchers, and clinicians to share knowledge, resources, and support; the 2026 conference is held at Gaylord Rockies Resort in Aurora, Colorado, with presenting, platinum, and gold sponsorship tiers.
• PMS Neuropsychiatric Consultation Group (ECHO) Telehealth-based expert consultation service connecting families with specialists in neurology, psychiatry, and other relevant fields to address neuropsychiatric aspects of Phelan-McDermid syndrome.
• PMSF Store (Bonfire) Online storefront selling branded merchandise (e.g., Phelan Lucky T-shirts, awareness items) via Bonfire.com to raise funds and awareness for the foundation.

Quantifiable outcome

• 90% of individuals with PMS have sleep disturbances, yet only 22% have had a formal sleep assessment — highlighting the gap PMSF addresses through education and clinical resources.
• +3 more outcomes

Named customers10 records

Segments4 records

Ideal customer profiles4 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature1 record

Partnerships

17 partnerships are on record, tiered core and minor.

• CureSHANKcoreStrategic or Co-development Partner · 1 January 2026CureSHANK co-funded the Yale University neuroinflammation research study in Shank3 mice alongside PMSF, contributing to the first demonstration of skill loss and rescue via anti-inflammatory treatment in a preclinical PMS model.
• Autism Science FoundationcoreStrategic or Co-development Partner · 1 January 2026Co-funded a research grant on neuroinflammation and regression in PMS with PMSF, supporting Dr. Sheng-Nan Qiao's work at Yale University.
• Cincinnati Children's Hospital Medical CentercoreStrategic or Co-development Partner · 1 January 2026Home to the first multidisciplinary PMS clinic co-developed with PMSF input, integrating genetics, neurology, psychiatry, sleep medicine, and gastroenterology. PMSF identifies this as an important model of care it aims to replicate.
• Neuren PharmaceuticalscoreStrategic or Co-development Partner · 1 January 2026Presenting sponsor of the 2026 PMSF Family Conference. Conducting Phase II trial of NNZ-2591 in PMS. PMSF manages travel expense reimbursement for trial participants.
• Jaguar Gene TherapycoreGTM or Marketing Partner · 1 January 2026Gold sponsor of the 2026 PMSF Family Conference. Developing JAG201, a gene replacement therapy targeting SHANK3 deletion/mutation.
• PYC TherapeuticscoreStrategic or Co-development Partner · 1 January 2026Presenting sponsor of the 2026 PMSF Family Conference. Developing PYC-002, an RNA-based gene therapy for PMS.
• Autism BrainNetminorOthers · 1 January 2026Listed among advocacy partnerships on PMSF website, representing a collaborative relationship in the rare disease and neurodevelopmental disorder ecosystem.
• AIMS-2-TRIALSminorOthers · 1 January 2026Listed as an advocacy partnership supporting research collaboration across autism and neurodevelopmental disorders.
• NORD (National Organization for Rare Disorders)minorOthers · 1 January 2026PMSF staff attended the 2025 NORD Breakthrough Summit, indicating active participation in the broader rare disease advocacy community.
• Global GenesminorOthers · 1 January 2026Listed among advocacy partnerships supporting the rare disease community.
• Child Neurology FoundationminorOthers · 1 January 2026Listed as an advocacy partnership.
• Epilepsy Foundation / Rare Epilepsy NetworkminorOthers · 1 January 2026Partnership supporting seizure registry and epilepsy-related research for PMS families through the Rare Epilepsy Network (REN).
• PAGENDA (Alliance for Patient Access)minorOthers · 1 January 2026Listed as an advocacy partnership.
• American Brain CoalitionminorOthers · 1 January 2026Listed as an advocacy partnership.
• AES (American Epilepsy Society)minorOthers · 1 January 2026Listed as an advocacy partnership.
• CureSHANK (co-sponsor of EL-PFDD Meeting)coreGTM or Marketing Partner · 1 January 2022CureSHANK sponsored and co-planned the externally-led Patient-Focused Drug Development (EL-PFDD) meeting with the FDA in November 2022, co-sponsored by PMSF, to gather patient insights for regulatory decision-making.
• HeterogeneouscoreStrategic or Co-development PartnerUK-based patient data matching platform allowing PMS families to connect with researchers and industry using the latest genome sequencing. PMSF encourages families to enroll in both Heterogeneous and the PMS International Registry.

Scale indicators7 records

Recent moves6 records

Expansion highlights6 records

Direct peers

• CureSHANK: Closely aligned rare-disease nonprofit also focused on Phelan-McDermid syndrome and SHANK3-related disorders. Co-funds research with PMSF and co-sponsored the 2022 FDA EL-PFDD meeting, serving the same patient and researcher communities.
• PCD Foundation: Patient advocacy foundation for Primary Ciliary Dyskinesia, another rare genetic disorder. Demonstrates the same integrated nonprofit model of family support, research grants, patient registry, and biotech/pharma partnerships applicable to small rare disease populations.
• Tuberous Sclerosis Alliance: Rare disease nonprofit supporting individuals with tuberous sclerosis complex; runs a comparable integrated model of family support, multidisciplinary clinics, research grants, and biotech partnerships for targeted therapies.
• Angelman Syndrome Foundation: Patient advocacy nonprofit for another rare neurodevelopmental disorder with a similar integrated model of family support, research grants, a patient registry, and biotech partnerships for gene therapy development.
• Child Neurology Foundation: Nonprofit supporting children with neurological conditions and their families, with overlapping scope on neurodevelopmental disorders. Listed as a PMSF advocacy partner and operates a similar family-support and clinician-engagement model.
• National Fragile X Foundation: Nonprofit serving individuals with Fragile X syndrome, a related neurodevelopmental disorder with genetic underpinnings. Operates a similar patient registry, family support programs, research grant funding, and clinical trial recruitment model.

Broad incumbents

• National Organization for Rare Disorders (NORD): Umbrella advocacy organization serving all rare diseases; PMSF participates in NORD's Breakthrough Summit. NORD provides policy advocacy, research grants, and patient services at the broader rare-disease level, overlapping with PMSF on advocacy and community support.
• Global Genes: Rare disease advocacy organization offering toolkits, patient programs, and summits. Listed among PMSF's advocacy partnerships, with overlapping mission around awareness, education, and patient empowerment.

Emerging players

• Autism Science Foundation: Nonprofit funding autism research that co-funded PMSF's Yale neuroinflammation study. Operates in an adjacent but overlapping neurodevelopmental space with shared research priorities and co-funding mechanisms.

Regional players

• Epilepsy Foundation: Broader epilepsy advocacy organization connected to PMSF through the Rare Epilepsy Network and shared interest in seizure comorbidities. Comparable model of family support, research grants, and clinical trial recruitment, though serving a much larger population.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xx.com/Phelan_McDermid
• YouTubeyoutube.com/channel/UC-MRnjagSEpBvvwP9jbosfA
• Facebookfacebook.com/PMSF22q13
• Instagraminstagram.com/pmsf_official

Revenue estimate

Valuation estimate

Number of profiles

Profiles6 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Phelan-McDermid Syndrome Foundation