Barth Syndrome Foundation

Name

Barth Syndrome Foundation

Legal name

Barth Syndrome Foundation

Website

https://barthsyndrome.org

Company type

Private

Founded year

2000

Operating status

Operating

Headcount range

1–10 employees

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy

NAICS

Voluntary Health Organizations (813212), Grantmaking and Giving Services (8132), Other Individual and Family Services (624190), Social Advocacy Organizations (8133)

SIC

Services-Social Services (8300)

akta.pro primary industry

Rare Disease & Special Needs Support Organizations (BPAGACAM)

akta.pro secondary industry

Community Foundations (BPAGAKAB)

Keywords

• Rare disease advocacy
• Patient support services
• Genetic disorder research
• Family education resources
• Medical research funding

Headquarters

HQ city

Larchmont

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

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

Revenue model

1. Donations and Charitable Contributions: The foundation operates as a 501(c)(3) nonprofit organization primarily funded through donations from individuals, families, and supporters of the Barth syndrome community.
2. Grant Funding: Receives grant funding from organizations such as the Chan Zuckerberg Initiative's Rare As One Project for research and capacity building.

Go-to-market motion1 record

Distribution channels2 records

Marketing channels7 records

Core offering

Barth Syndrome Foundation is a volunteer-based nonprofit organization dedicated to saving lives through education, family support, research facilitation, and FDA treatment advocacy for Barth syndrome, a life-threatening genetic, multi-system disorder primarily affecting males. The foundation operates the Human TAFAZZIN Gene Variants Database, a patient registry and biorepository, an emergency relief program, and advocates for treatment approval with regulators and pharmaceutical partners.

Product overview

The Barth Syndrome Foundation is a patient advocacy organization that provides a comprehensive ecosystem of services for individuals and families affected by Barth syndrome. The foundation's offerings include the recently FDA-approved medication FORZINITY (elamipretide), the Human TAFAZZIN Gene Variants Database for research, the Barth Syndrome Registry and Repository for clinical research participation, the Barth Cares Program for patient support, the Emergency Relief Program for financial assistance, FACT Sheets for education, virtual care resources, biennial conferences, and clinical trial participation opportunities. The organization serves as the worldwide hub of medical knowledge about Barth syndrome, facilitating research, providing support services, and advocating for treatments.

Differentiator

Problem solved

Functional benefit

Brands

• Barth Cares: A program offering encouragement and support to individuals with Barth syndrome during hospitalizations, transplantation, or loss of a loved one, including Get Well Cookies, Barth Buddy Bear, and eCards.
• Barth Syndrome Emergency Relief Program
• BSF eCards
• Arrhythmia Project

Products and services

• Human TAFAZZIN Gene Variants Database A comprehensive research database tracking genetic variants of the TAFAZZIN gene associated with Barth syndrome, containing over 350 disease-causing variants, over 140 variants of unknown significance, and over 200 benign polymorphisms sourced from patient registry submissions, literature, ClinVar, and family-shared genetic reports.
• Barth Syndrome Registry and Repository A patient registry and biorepository that collects clinical data and biological samples from individuals with Barth syndrome to advance research and facilitate clinical trial participation.
• Barth Cares Program A patient support program offering encouragement during hospitalizations, transplantation, or loss of a loved one, including Get Well Cookies, Barth Buddy Bear, and eCards for individuals affected by Barth syndrome.
• Barth Syndrome Emergency Relief Program A financial assistance program funded through NORD that provides short-term support covering unexpected or emergency non-medical expenses for families affected by Barth syndrome, serving approximately 20 families.
• FACT Sheets Library A comprehensive library of downloadable fact sheets covering all aspects of Barth syndrome including cardiac issues, neutropenia, nutrition, genetics, anesthesia, growth charts, and related topics for families, clinicians, and educators.

Quantifiable outcome

• Clinical trials demonstrated elamipretide can boost muscle strength by 45% and heart function by 40%
• +3 more outcomes

Named customers3 records

Segments4 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature1 record

Partnerships

13 partnerships are on record, tiered major, core and supportive.

• Barth FrancemajorStrategic or Co-development Partner · 31 August 2023Barth France partnered with BSF through the Strategic Initiatives Program (SIP) to co-fund the $350,000 Arrhythmia Project. This research initiative aims to better characterize the progression of heart muscle weakness and rhythm disturbances in Barth syndrome with the goal of saving lives.
• MedicAlertcoreStrategic or Co-development Partner · 1 August 2023BSF partnered with MedicAlert to provide Barth syndrome affected individuals in the United States with Medical IDs and Protection Plans. MedicAlert has provided Medical IDs and 24/7 services to relay critical medical information to first responders for over 65 years. Eligibility requires genetically or clinically confirmed Barth syndrome diagnosis or enrollment in the Barth Syndrome Registry.
• National Organization for Rare Disorders (NORD)coreStrategic or Co-development Partner · 1 January 2022BSF funded the Barth Syndrome Emergency Relief Program through NORD to support approximately 20 families with short-term assistance for unexpected or emergency non-medical expenses. NORD's specialized patient service representatives provide dignified support to families.
• National Health CouncilcoreGTM or Marketing PartnerBSF is a member of the National Health Council, an organization that provides a unified voice for voluntary health charities and represents organizations committed to the health and well-being of patients.
• Give.org (BBB Wise Giving Alliance)coreGTM or Marketing PartnerBSF is listed on Give.org, demonstrating commitment to charity accountability and transparency standards set by the Better Business Bureau.
• CandidcoreGTM or Marketing PartnerBSF is listed on Candid (formerly GuideStar), the largest source of information about nonprofit organizations, providing transparency about the foundation's work and finances.
• GreatNonprofitscoreGTM or Marketing PartnerBSF is listed on GreatNonprofits, a platform that allows donors to find and review nonprofits, supporting visibility and community trust.
• United Mitochondrial Disease FoundationsupportiveGTM or Marketing PartnerUnited Mitochondrial Disease Foundation joined BSF in stressing the critical need for elamipretide approval and the lack of alternatives for patients with Barth syndrome.
• MitoActionsupportiveGTM or Marketing PartnerMitoAction collaborated with BSF in advocating for FDA approval of elamipretide, emphasizing its potential to significantly enhance quality of life and survival for Barth syndrome patients.
• Friedreich's Ataxia Research FoundationsupportiveGTM or Marketing PartnerPartnered with BSF in urging the FDA to approve elamipretide, collectively advocating for rare disease treatment access.
• PolG FoundationsupportiveGTM or Marketing PartnerCollaborated with BSF in stressing the critical need for elamipretide treatment and lack of alternatives for mitochondrial disease patients.
• Children's Cardiomyopathy FoundationsupportiveGTM or Marketing PartnerPartnered with BSF in advocating for FDA approval of elamipretide for Barth syndrome, a condition involving cardiomyopathy.
• Stealth BioTherapeuticscoreStrategic or Co-development PartnerStealth BioTherapeutics is the biopharmaceutical company developing elamipretide for Barth syndrome treatment. BSF has worked extensively with Stealth on FDA advocacy, clinical trial facilitation, patient registry development, and regulatory pathway workshops since 2015. The foundation has participated in multiple FDA meetings with Stealth including Type A meetings, pre-NDA meetings, and NDA resubmission efforts.

Scale indicators4 records

Recent moves6 records

Expansion highlights5 records

Broad incumbents

• National Organization for Rare Disorders (NORD): Largest US umbrella rare disease advocacy organization; operates the Emergency Relief Program that channels BSF's family assistance. Directly comparable as a rare disease advocacy and grantmaking peer, though far broader in scope (400+ disease communities).
• EveryLife Foundation for Rare Diseases: Policy-focused rare disease advocacy organization that operates in the same regulatory and legislative advocacy space as BSF. Comparable on FDA/Congressional advocacy, broader on policy scope.

Direct peers

• Friedreich's Ataxia Research Alliance (FARA): Patient-driven rare disease foundation that funds research, runs a patient registry, hosts conferences, and co-advocated with BSF on elamipretide/FDA issues. Highly comparable model (small staff, ultra-rare genetic disease, FDA advocacy, research grants).
• United Mitochondrial Disease Foundation: Mitochondrial disease umbrella advocacy organization that partnered with BSF on elamipretide FDA advocacy. Operates the same advocacy/research/conference/family-support model and serves an overlapping patient population.
• MitoAction: Mitochondrial disease patient advocacy organization that co-advocated with BSF on elamipretide approval. Comparable mission, donor base, and FDA engagement approach for the mitochondrial disease community.
• Children's Cardiomyopathy Foundation: Pediatric cardiomyopathy-focused advocacy organization that joined BSF's elamipretide advocacy coalition. Comparable disease-area focus (cardiomyopathy in children) and FDA advocacy playbook.
• Parent Project Muscular Dystrophy (PPMD): Long-established patient-led advocacy foundation for Duchenne muscular dystrophy — widely regarded as a gold-standard model in rare disease advocacy, research funding, registry operations, and FDA engagement that BSF's model closely mirrors.
• Cure SMA: Spinal muscular atrophy advocacy foundation with a parallel playbook: small staff, patient registry, research funding, FDA advocacy leading to multiple approved therapies (Spinraza, Evrysdi, Zolgensma). Closely comparable scale and operational model.
• PolG Foundation: Patient-driven foundation for ultra-rare POLG-related mitochondrial disease that co-advocated with BSF on elamipretide and shares the small-staff, ultra-rare disease, FDA advocacy model.

Regional players

• A cure for Ellie / Barth France: International affiliate organization for Barth syndrome in France that co-funded the $350,000 Arrhythmia Project with BSF. Directly comparable mission and patient base, but focused on French/European families rather than US.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat4 records

Key risks5 records

Key highlights7 records

Customer concentration

• Xx.com/BarthSyndrome
• YouTubevimeo.com/barthsyndrome
• Facebookfacebook.com/barthsyndromefoundation
• LinkedInlinkedin.com/company/barthsyndromefoundation
• Instagraminstagram.com/barthsyndrome

Revenue estimate

Valuation estimate

Number of profiles

Profiles1 record

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Barth Syndrome Foundation