research dossier

THE BARTH SYNDROME FOUNDATION

LARCHMONT, NY · EIN 223755704 · Form 990 · FY2024 · NTEE T30 · Philanthropy & Grantmaking · Medium ($1M-$10M) · barthsyndrome.org

revenue

$1.9M

expenses

$2.1M

net assets

$5.2M

employees

volunteers

200

program ratio

83%

mission · from form 990

1)TO PROMOTE AWARENESS OF BARTH SYNDROME; 2) TO EDUCATE AND SUPPORT PHYSICIANS, RESEARCH CENTERS, AND ORGANIZATIONS ADDRESSING THE CAUSES, DIAGNOSIS, TREATMENTS AND CURE OF BARTH SYNDROME; AND 3) TO ASSIST IN THE SUPPORT OF THOSE SUFFERING FROM BARTH SYNDROME AND THEIR FAMILIES.

profile · synthesized from sources

The Barth Syndrome Foundation promotes awareness, supports research, and advocates for patients and families affected by Barth syndrome, a rare genetic disorder. It connects families, clinicians, and researchers through biennial conferences and drives policy efforts to accelerate treatment development and regulatory approval. The organization focuses on improving diagnosis, care, and access to emerging therapies for this ultra-rare condition.

irs program accomplishments · form 990 part iii · fy2024

What they reported doing

#1 primary $332K

THIS CONFERENCE WHICH IS HELD EVERY TWO YEARS, BRINGS AFFECTED FAMILIES, RESEARCH SCIENTISTS AND CLINICIANS TOGETHER IN ONE PLACE AT A TIME, SO THAT THEY MAY COLLABORATE AND SHARE THEIR KNOWLEDGE TO GAIN A GREATER UNDERSTANDING OF BARTH SYNDROME AND LEARN ABOUT THE LATEST DISCOVERIES AND SCIENTIFIC RESEARCH AVAILABLE. FAMILIES HAVE A UNIQUE OPPORTUNITY TO BE SEEN BY THE WORLD'S GREATEST EXPERTS, THEREBY, CONTRIBUTING DIRECTLY TO THE SEARCH FOR A CURE BY PRODIVING INFORMATION AND TISSUE SAMPLES.
#2 $274K

BSF BUILDS AWARENESS OF BARTH SYNDROME TO IMPROVE DIAGNOSIS AND CARE, WHILE ADVANCING ADVOCACY EFFORTS THAT AMPLIFY PATIENT VOICES, MOBILIZE OUR PATIENT COMMUNITY, AND SUPPORT PROGRESS IN RESEARCH AND TREATMENT ACCESS AND DRUG DEVELOPMENT POLICY

named programs · 3 · from sources

What they call their work

Barth Syndrome International Scientific, Medical and Family Conference

Biennial conference that brings together affected families, researchers, and clinicians to share knowledge, advance understanding of Barth syndrome, and contribute to research through clinical evaluations and tissue samples.

Elamipretide Advocacy Initiative

Organized advocacy campaign to support FDA approval of elamipretide, including patient testimonies, physician letters, congressional outreach, and public media engagement to influence regulatory decisions for the treatment of Barth syndrome.

Therapy Development Fund

Fund dedicated exclusively to advancing therapies designed to prevent, alleviate, or eliminate symptoms of Barth syndrome, including financial support for research and drug development.

activities · 5 groups

What they do

Rare Genetic Disease Research and Advocacy 7 activities
- Advocating for FDA approval of Barth syndrome therapies
  
  Conducted advocacy efforts to secure FDA approval of elamipretide, the first potential therapy for Barth syndrome, including submitting a successful petition, mobilizing family advocates, coordinating physician letters, and direct communication with the FDA. Recognized by the FDA for contributing to the fair review process and convening of an Advisory Committee.
- Conducting awareness and policy advocacy for Barth syndrome
  
  Engages in awareness-building and advocacy to improve diagnosis, care, and research policy for Barth syndrome, including mobilizing the patient community and recognizing congressional champions during Rare Disease Week on Capitol Hill.
- Developing and distributing educational resources
  
  Creates and distributes online information, print publications, video content, and informational resources for families, individuals, and professionals to raise awareness and understanding of Barth syndrome among the public and medical community.
- Developing and providing research models
  
  Develops and provides access to animal and cellular models of Barth syndrome for use in research.
- Establishing standards of care and diagnosis
  
  Pioneered standards of care and diagnosis for Barth syndrome, contributing to the advancement of research and availability of treatment.
- Facilitating research and clinical collaborations
  
  Facilitates collaborations between clinicians, researchers, and patients affected by Barth syndrome to accelerate progress toward a cure.
- Operating a patient registry and biobank
  
  Manages BarthINSIGHTS, a patient registry and repository, and maintains a biobank of patient samples and transformed cell lines for Barth syndrome research. Also maintains a database of human tafazzin gene variants associated with the disease.
Genetic and Neurological Disease Research Funding 2 activities
- Funding research grants for Barth syndrome
  
  Funds research grants for investigators worldwide to study the biochemistry, genetics, and disease mechanisms of Barth syndrome, including development of animal models and collection of phenotypic data. The foundation has supported research projects in discovery science, physiological and psychosocial characterization, and cellular and animal modeling since 2002 through an annual grant program.
- Funding therapy development for Barth syndrome
  
  Finances the development of therapies to prevent, alleviate, or eliminate symptoms of Barth syndrome through dedicated funds, including the Therapy Fund and the Will McCurdy Fund.
Organizational Sustainability Management 1 activity
- Managing financial and organizational health
  
  Oversees the foundation’s annual budget, investment performance, and overall financial health, supporting fiscal sustainability through philanthropy, fund development, and grassroots fundraising.
Patient and Researcher Conferences 1 activity
- Organizing international scientific and family conferences
  
  Organizes a biennial international scientific, medical, and family conference to convene researchers, clinicians, and affected families to collaborate on understanding Barth syndrome and advancing research, including collection of information and tissue samples. In 2023, regional meetings were hosted as an alternative due to the ongoing impact of the COVID-19 pandemic.
Familial Support for Rare Genetic Conditions 1 activity
- Providing family support services
  
  Provides information, guidance, emotional support, and 24/7 assistance to families affected by Barth syndrome through dedicated family services.

financials · form 990 · fy2024

revenue

Total revenue$1.94M

Contributions & grants$1.67M86%

Program service revenue$00%

Investment income$257K13%

Other revenue$9K

expenses

Total expenses$2.09M

Program expenses83%

Admin / overhead9%

Fundraising9%

Salaries & benefits$841K

Grants paid out$433K

Largest expense lineCompensation

balance sheet

Total assets$5.64M

Cash$720K

Investments$4.89M

Liabilities$420K

Net assets$5.22M

Liquid reserves32.1 mo

5 years on record · 2020–2024 · YoY revenue +45.4%

leadership · form 990 part vii · fy2024

Who runs it

paid leadership · 2

Name	Title	Hours/wk	Compensation
EMILY MILLIGAN	EXECUTIVE DIRECTOR	35	$248K
LINDSAY MARJORAM	DIRECTOR OF RESEARCH	35	$182K

board members · 13

ANDREW BUDDEMEYER TERM 24 — BOARD MEMBER
BRANDI DAGUE — SECRETARY
BRUCE DEVELLE — BOARD MEMBER
FLORENCE MANNES TERM 24 — BOARD MEMBER
JAMES BAFFA — VICE CHAIR
JONATHAN STOKES — BOARD MEMBER
KATHERINE MCCURDY — CHAIR
MARK GREENE — TREASURER
MEGAN BRANAGH — BOARD MEMBER
MICHELLE FLOREZ — BOARD MEMBER
MIRIAM GREENBERG — BOARD MEMBER
NINA RUSSELL — BOARD MEMBER
PETER VAN LOO — BOARD MEMBER

relationships · 11

Who they work with

Chan Zuckerberg Initiative Funder — Awarded a grant to the Barth Syndrome Foundation through its Rare As One Project to support patient-led rare disease advocacy and collaboration.
Duke University Partner — Hosts W. Todd Cade, recipient of a 2026 BSF research grant.
Johns Hopkins School of Medicine Partner — Works with Dr. Hilary Vernon of Johns Hopkins School of Medicine, who led a physician letter to the FDA supporting elamipretide approval.
Kennedy Krieger Institute Partner — Hosts the Barth Syndrome Clinic where a foundation-affiliated physical therapist collaborates on clinical care.
New York University Partner — Hosts Timothy Cardozo, recipient of a 2026 BSF research grant.
Scientific and Medical Advisory Board Network — Composed of experts who review all research grant applications for the Barth Syndrome Foundation.
Scientific and Medical Advisory Board Partner — Advisory board providing scientific and medical guidance to the foundation.
Stealth BioTherapeutics Partner — Collaborates on the development and regulatory advancement of elamipretide, a potential therapy for Barth syndrome.
Stealth BioTherapeutics Partner — Collaborates with Stealth BioTherapeutics in advocacy efforts related to the FDA review and approval of elamipretide for Barth syndrome.
U.S. Food and Drug Administration Government — Engages directly with the FDA through petitions, public comments, and advocacy to influence regulatory decisions on elamipretide.
University of California San Diego Partner — Hosts Itay Budin, recipient of a 2026 BSF research grant.

strategies · 2

How they approach the work

Named approaches extracted from this org’s sources. Where others share an approach, follow it to see the full set of orgs running it.

Family-Scientist Collaborative Research Model

methodology: family-scientist_collaboration
By integrating families directly into the research process alongside scientists, the foundation accelerates discovery because lived experience and patient insights enhance scientific prioritization, improve recruitment, and increase the relevance and speed of therapeutic development.
Integrated Community-Research-Advocacy Model

methodology: integrated_community-research-advocacy_model
By simultaneously advancing community support, research investment, treatment development, and policy advocacy, the foundation produces faster progress for a rare disease because each pillar reinforces the others—patient networks accelerate trial recruitment, advocacy enables regulatory flexibility, and research credibility strengthens public awareness.