PITT HOPKINS RESEARCH FOUNDATION

What PITT HOPKINS RESEARCH FOUNDATION does

Pitt Hopkins Research Foundation (PHRF) is a North Carolina-incorporated 501(c)(3) nonprofit established in 2018 by parents of children with Pitt Hopkins Syndrome, an ultra-rare genetic disorder caused by variants in the TCF4 gene on chromosome 18. The foundation's mission is to fund and accelerate research toward treatments and a cure for PTHS while providing information, resources, and community support to affected families. PHRF does not sell a technology product; instead it operates as a grant-making and convening body, awarding research grants to academic and biotech partners and supporting a multi-modality therapeutic pipeline that currently includes Mahzi Therapeutics' gene therapy, Unravel Pharmaceuticals' RVL-001 program, Neuren Pharmaceuticals' NNZ-2591 candidate, and Microbiota Transfer Therapy for gastrointestinal symptoms. It also maintains a Family Registry, a Pitt Hopkins Census, and a natural-history partnership with Citizen Health, and convenes an annual Science Symposium (virtual in 2026) and Family Conference.

The foundation's revenue model is donations-based, with streams including individual tax-deductible donations (via Bloomerang and PayPal on pitthopkins.org), peer-to-peer personal fundraising campaigns, event-based fundraisers (golf tournaments, 5K walks, awareness events anchored by Pitt Hopkins Awareness Month in September), direct-mail appeals, and passive giving through the iGive shopping portal (1,800+ retailers), eBay for Charity, and RareiTees merchandise sales. Inbound grant funding flows in selectively — most notably via the $4 million CIRM award to Mahzi Therapeutics in December 2022 and recurring participation in UPenn's Million Dollar Bike Ride over five consecutive years. PHRF states that more than 94% of donated funds flow directly to research, and the organization is run by a board of parents and professionals with a staff of approximately five, reflecting its community-led, volunteer-driven operating model.

Name

PITT HOPKINS RESEARCH FOUNDATION

Legal name

Pitt Hopkins Research Foundation

Website

https://pitthopkins.org

Company type

Private

Founded year

2018

Operating status

Operating

Headcount range

1–10 employees

Short description

Pitt Hopkins Research Foundation is a North Carolina-based 501(c)(3) nonprofit that funds and coordinates research toward treatments and a cure for Pitt Hopkins Syndrome, an ultra-rare TCF4 genetic disorder, while supporting affected families with resources, registries, and community programs.

Ownership category

akta.pro rank

Product category

Rare Disease Research Foundation

NAICS

Voluntary Health Organizations (813212), Grantmaking and Giving Services (81321), Other Individual and Family Services (624190)

SIC

Services-Social Services (8300)

akta.pro primary industry

Health & Medical Research Grantmaking Foundations (BPAGAKAL)

akta.pro secondary industries

Community Foundations (BPAGAKAB), Education Grantmaking Foundations (BPAGAKAK)

Keywords

• Rare disease research
• Genetic disorder research
• Clinical trial funding
• Nonprofit foundation
• Community fundraising

Headquarters

HQ city

North Carolina

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

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

Revenue model

1. Individual Donations: Tax-deductible donations from individuals supporting research for Pitt Hopkins Syndrome treatments and cures.
2. Personal Fundraising Campaigns: Peer-to-peer fundraising campaigns created by families and supporters in honor of individuals with PTHS, using online giving pages.
3. Event-Based Fundraising: Annual events including golf tournaments, walks/5K races, awareness day events, and community fundraisers.
4. Corporate Partnerships: iGive shopping program where retailers donate a portion of sales; eBay for Charity listing program; merchandise partnerships.
5. Grant Funding: Funding from organizations like CIRM ($4M grant to Mahzi Therapeutics) supporting specific research projects.

Go-to-market motion2 records

Distribution channels6 records

Marketing channels10 records

Core offering

PHRF is a nonprofit foundation that funds and coordinates scientific research toward treatments and a cure for Pitt Hopkins Syndrome, while providing affected families with educational resources, clinical trial information, and community support. The foundation channels donations into multiple therapeutic research programs (gene therapy, ASO, CRISPR, microbiota transfer, small-molecule drugs) and operates family-facing support, awareness, and fundraising programs.

Product overview

Pitt Hopkins Research Foundation (PHRF) is a non-profit organization dedicated to supporting research for treatments and a cure for Pitt Hopkins Syndrome. The foundation does not offer a technology product; its primary offerings consist of funding and coordinating clinical trials, providing family support resources, facilitating clinical trial participation, distributing newsletters, and operating fundraising campaigns through third-party platforms including iGive, eBay for Charity, and Bloomerang donation processing.

Differentiator

Problem solved

Functional benefit

Products and services

• PHRF Research Grant Program Competitive research grants awarded to academic and biotech investigators conducting PTHS-related research; supports gene therapy, ASO, CRISPR, microbiota, and small-molecule programs. Target users: principal investigators and research institutions.
• Mahzi Gene Therapy Clinical Trial (PHRF-coordinated referral) PHRF-coordinated clinical trial information and family enrollment support for the Mahzi Therapeutics gene therapy program for PTHS. Target users: PTHS families and clinicians seeking gene therapy access.
• Unravel RVL-001 Clinical Trial (PHRF-coordinated referral) PHRF-coordinated clinical trial information and family enrollment support for Unravel Pharmaceuticals' RVL-001 trial for PTHS. Target users: PTHS families and clinicians.
• MTT (Microbiota Transfer Therapy) Clinical Trial PHRF-coordinated clinical trial program for Microbiota Transfer Therapy addressing GI issues common in PTHS patients; 2024 trial referenced on PHRF website. Target users: PTHS families and clinicians.
• Neuren Clinical Trial (NNZ-2591) PHRF-coordinated clinical trial information and family enrollment support for Neuren Pharmaceuticals' NNZ-2591 program for PTHS. Target users: PTHS families and clinicians.
• Pitt Hopkins Family Registry Voluntary registry of PTHS patients and families providing demographic and clinical data to researchers; enables natural history studies and clinical trial recruitment. Target users: PTHS families and research investigators.
• Personal Fundraising Campaign Program Self-service peer-to-peer fundraising platform allowing PHRF supporters to create personal donation pages in honor of a specific individual with PTHS. Target users: families, friends, and supporters of PTHS individuals.

Quantifiable outcome

• First patient dosed with Mahzi gene therapy (February 2026)
• +2 more outcomes

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Partnerships

Eleven partnerships are on record, tiered core, major and minor.

• Mahzi TherapeuticscoreStrategic or Co-development PartnerBiotech company partnered with UCSD researchers to bring gene therapy from lab to clinical trials. First patient dosed February 2026. Founded by scientists from Ultragenyx.
• University of California San Diego (UCSD)coreStrategic or Co-development PartnerUCSD lab led by Dr. Alysson Muotri conducted CRISPR research to replace TCF4 gene in brain organoids. Partnered with Mahzi Therapeutics for clinical translation.
• Nationwide Children's Hospital (Ohio)majorStrategic or Co-development Partner$131,033 grant (2021-2023) to Dr. Kathryn Meyer for in vitro disease modeling and testing of three gene therapy approaches including MeCP2 gene replacement, X-reactivation, and U7 small nuclear RNA modulation.
• Arizona State UniversitymajorStrategic or Co-development Partner$150,000 grant (2019-2021) to Dr. James B. Adams for Microbiota Transfer Therapy clinical trial addressing gastrointestinal disorders common in PTHS patients.
• University of AmsterdammajorStrategic or Co-development Partner$58,602 grant (2025-2026) to Simone Mesman for research on TCF4 role in gut development and underlying causes of GI problems in PTHS patients.
• Neuren Pharmaceuticals (ASX: NEU)majorStrategic or Co-development PartnerPharmaceutical company developing NNZ-2591 drug candidate. Added to Neuren's official pipeline May 2019 after pre-clinical results showed reversal of multiple PTHS symptoms in mice. Clinical trials followed.
• Unravel PharmaceuticalscoreStrategic or Co-development PartnerBiotech company conducting RVL-001 clinical trial for PTHS. First patient dosed May 2026. Active clinical trial partnership with PHRF.
• Children's Hospital ColoradominorStrategic or Co-development PartnerCenter of Excellence for rare disorders that expanded focus to include Pitt-Hopkins, providing clinical care and research opportunities.
• iGiveminorGTM or Marketing PartnerOnline shopping portal partner where shoppers can support PHRF by shopping at 1,800+ retailers with portion of sales donated to the foundation.
• eBay for CharityminorGTM or Marketing PartnereBay Giving Works program allowing buyers and sellers to support PHRF through charity listings and designated donations.
• RareiTeesminorGTM or Marketing PartnerClothing brand creating custom Pitt Hopkins apparel with 100% of sales proceeds supporting PTHS research initiatives.

Scale indicators7 records

Recent moves6 records

Expansion highlights5 records

Direct peers

• Friedreich's Ataxia Research Alliance (FARA): Patient-driven research foundation supporting gene therapy, ASO, and small molecule development for Friedreich's Ataxia. Highly comparable to PHRF as a parent-led rare disease foundation with multi-modality pipeline, biotech partnerships, and active clinical trial recruitment.
• Foundation for Prader-Willi Research: Parent-driven foundation funding research for Prader-Willi Syndrome, a rare genetic neurodevelopmental disorder. Directly comparable as a small-staff rare disease nonprofit that funds multi-modality research, runs family conferences, and supports clinical trial recruitment.
• Dup15q Alliance: Family-led foundation funding research for Dup15q Syndrome, a rare chromosomal disorder with overlapping neurodevelopmental features to Pitt Hopkins. Comparable as a small-staff rare disease foundation with similar patient population scale, family conference model, and peer-to-peer fundraising approach.
• Phelan-McDermid Syndrome Foundation: Family-led foundation supporting research for Phelan-McDermid Syndrome, a rare genetic disorder affecting SHANK3. Directly comparable to PHRF in patient population size (~1,000-2,000 families globally), gene therapy pipeline focus, and peer-to-peer fundraising model.
• Rett Syndrome Research Trust: Agressive research foundation supporting gene therapy and ASO approaches for Rett Syndrome, another rare neurodevelopmental disorder with TCF4-related biology. Highly comparable to PHRF in mission, pipeline structure (gene therapy + ASO), and reliance on biotech partnerships.
• Angelman Syndrome Foundation: Nonprofit foundation funding research and clinical trials for Angelman Syndrome, a rare neurodevelopmental disorder. Directly comparable to PHRF as a parent-led rare disease research foundation supporting active gene therapy and ASO clinical pipelines with similar fundraising and community engagement models.

Broad incumbents

• National Organization for Rare Disorders (NORD): Umbrella advocacy and research support organization for all rare diseases in the US. Comparable in serving as a convener for rare disease foundations and providing resources to patient communities, though NORD operates at the federation level rather than funding specific disease research directly.
• Cystic Fibrosis Foundation: Large, established rare disease research foundation with a venture philanthropy model that funded development of multiple approved CF therapies. Comparable in mission to drive treatments for a single rare disease through grantmaking and biotech partnerships, though at a vastly larger scale.
• Cure SMA: Larger, more established rare disease foundation that successfully drove an approved gene therapy (Zolgensma) for spinal muscular atrophy. Comparable business model (fund research, run clinical trials, drive patient recruitment) but at materially larger scale and with a successful approved therapy outcome.

Emerging players

• EveryLife Foundation for Rare Diseases: Advocacy and policy nonprofit focused on accelerating rare disease therapeutic development across many conditions. Adjacent rather than directly comparable, but they convene the same biotech, academic, and FDA ecosystem that PHRF's clinical trial partners operate within.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xx.com/PittHopkins
• YouTubeyoutube.com/channel/UCU0sA8UxmeCF7kvwdtxESdg
• Facebookfacebook.com/pitthopkins.org
• LinkedInlinkedin.com/company/pitt-hopkins-research-foundation
• Instagraminstagram.com/pitthopkins_rf
• Pinterestpinterest.com/pitthopkinsorg

Revenue estimate

Valuation estimate

Number of profiles

Funding overview

Funding rounds

Investors

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M&A

Investments

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