named programs · 5 · from sources
What they call their work
APBD Scientific & Community Conference
Annual virtual conference uniting researchers, clinicians, patients, and families from over 15 countries to share research and foster collaboration
Find The 34,000 Campaign
Initiative based on research estimating 34,000 people worldwide have GBE1-related diseases, aiming to identify and support all affected individuals
GSD IV Biobank
Initiative to collect and store biological samples and clinical data from individuals with GSD IV and related GBE1 disorders to advance research
Patient and Caregiver Chats
Regular virtual events connecting patients and caregivers for support, education, and community building
Rally for Research
Annual fundraising campaign supporting APBD research grants awarded to institutions like Duke University and UTSW Medical Center
activities · 5 groups
What they do
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Healthcare Policy Advocacy 1 activity
- Advocating for APBD patients in regulatory and scientific forumsRepresents the APBD community in FDA meetings, including patient-led listening sessions and commentary on guidance documents. Participates in Rare Disease Day and contributes to the development of patient-centered health outcome measures for glycogen storage diseases.
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Scientific Conference & Symposium Management 1 activity
- Building scientific and community capacity through conferences and advisory structuresHosts virtual scientific and community conferences with hundreds of participants from multiple countries and convenes focus groups to gather patient input. Maintains a Scientific and Medical Advisory Board to guide research and strategy.
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Biomedical Research and Innovation 1 activity
- Conducting and supporting research on APBD biomarkers and therapiesLeads and facilitates research initiatives including blood- and urine-based biomarker studies, drug repurposing using patient biosamples, and clinical trials for treatments such as the Golden Heart Flower. Hosts regular biomarker workshops to advance treatment development.
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Genetic and Neurological Disease Research Funding 1 activity
- Funding medical research for APBD and related glycogen storage disordersAwards pilot grants and raises funds to support preclinical and clinical research for APBD and GSD IV, including gene therapy, antisense oligonucleotide therapy, and biomarker discovery. Has awarded nearly $2 million in grants to institutions including Duke, UTSW, UCLA, and Columbia.
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Peer-Led Mental Health Support Groups 1 activity
- Providing direct support to patients and caregivers through virtual chat sessionsHosts monthly virtual patient and caregiver chat sessions to share experiences, discuss symptoms, and explore coping strategies. Sessions are recorded and translated into German, French, Brazilian Portuguese, and Hebrew for global accessibility.
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financials · form 990 · fy2024
revenue
Total revenue$364K
Contributions & grants$345K95%
Program service revenue$00%
Investment income$19K5%
Other revenue$0
expenses
Total expenses$411K
Program expenses96%
Admin / overhead4%
Fundraising0%
Salaries & benefits$158K
Grants paid out$0
Largest expense lineOther
balance sheet
Total assets$513K
Cash$490K
Investments$0
Liabilities$4K
Net assets$509K
Liquid reserves14.3 mo
3 years on record · 2020–2024 · YoY revenue -10.2%
leadership · form 990 part vii · fy2024
Who runs it
paid leadership · 1
| Name | Title | Hours/wk | Compensation |
|---|---|---|---|
| NATACHA PIRES | EXEC DIRECTOR | 35 | $120K |
board members · 9
- ART GLASSMAN — TREASURER
- BETH KATZ — SECRETARY
- DEBERAH GOLDMAN — VICE PRESIDENT
- EMIL WEISS — CO-PRESIDENT
- HARRIET SAXE — BOARD
- JEFFREY LEVENSON — CO PRESIDENT
- MICHAEL CANMANN — BOARD
- PAUL REDLICH — BOARD
- SUSAN CODDON — MEMBER
relationships · 51
Who they work with
- APBD researchers Partner — Collaborates with APBD researchers in biomarker workshops to advance treatment development.
- Brain Research Institute, UCLA Partner — Hosts member Brent Fogel, MD, PhD.
- COMBINEDBrain Partner — Collaborates on the development of a Disease Concept Model for APBD and on the APBDRF Drug Repurposing Study.
- COMBINEDBrain Partner — Collaborates with COMBINEDBrain to advance research on APBD and related neurodevelopmental disorders.
- Cleveland Clinic Partner — Hosts member Marvin Natowicz, MD, PhD.
- Columbia University Partner — Hosts member Salvatore DiMauro, MD.
- Columbia University Partner — Provides guest speakers for APBD Research Foundation patient education sessions.
- Costello Medical Partner — Collaborates through a pro bono initiative to develop tools for uniting the APBD and GSD IV communities.
- Costello Medical Partner — Partners with Costello Medical on strategic communication initiatives and research collaboration.
- Duke University Partner — Collaborates with APBD Research Foundation by providing guest speakers for patient education sessions.
- Duke University Partner — Partners with Duke University through research grants and collaborative studies on APBD.
- Emory University Partner — Provides guest speakers for APBD Research Foundation patient chat sessions.
- Federal University of São Paulo, Brazil Partner — Collaborates with APBD Research Foundation by providing guest speakers on bladder dysfunction in APBD.
- Global Genes Partner — Partners with Global Genes to screen the APBDRF documentary “Life through a Lens” at events.
- Hadassah Medical Center Partner — Hosts member Or Kakhlon, PhD, and Alexander Lossos, MD.
- Industry Partners Partner — Collaborates with industry partners in the context of scientific conferences and therapy development.
- Mayo Clinic Partner — Hosts member Christopher J. Klein, MD.
- Montreal Neurological Institute-Hospital Partner — Hosts member Angela Genge, MD, FRCP(C).
- NORD Partner — Collaborates with NORD through participation in the Living Rare Study and Breakthrough Summit.
- NYU Medical Center Partner — Collaborates with Dr. Edwin Kolodny at NYU Medical Center for clinical guidance and research advancement.
- National Organization for Rare Disorders Network — Member of the National Organization for Rare Disorders (NORD), a registered 501(c)(3) charity.
- National Organization for Rare Disorders Network — Participates in Rare Disease Day and supports the Living Rare Study.
- New York University Neurology Associates Partner — Hosts SMAB Chair Emeritus Edwin H. Kolodny, MD.
- Newcastle University Partner — Hosts member Wyatt Yue, PhD.
- PROS Foundation Partner — Volunteer from Olivia Montano-Tritz affiliated with PROS Foundation contributes to the organization.
- Rare Disease Day Coalition — Participates in Rare Disease Day as part of a broader coalition to raise awareness for rare diseases.
- Tel Aviv University Partner — Hosts member Mia Horowitz, PhD.
- Texas Neurology Partner — Hosts member Raphael Schiffmann, MD, MHSc, FAAN.
- U.S. Food and Drug Administration (FDA) Government — Engaged in patient-led listening sessions to share patient and community perspectives on APBD.
- UCLA Partner — Collaborates with UCLA on blood-based biomarker research and receives research funding.
+ 21 more
strategies · 3
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.
- Collaborative Stakeholder Engagement Modelmethodology: collaborative_research_accelerationBy convening researchers, clinicians, industry partners, and affected individuals, accelerates APBD research and drug development, because multidisciplinary collaboration fosters shared insights, reduces duplication, and aligns priorities across the ecosystem.
- Patient-Centered Advocacy and Peer Support Integrationmethodology: patient_led_regulatory_engagementBy facilitating peer connections and enabling patient-led engagement with regulatory agencies, improves care and research relevance, because lived experience enhances clinical development priorities and increases patient retention and trust.
- Research-Driven Advocacy and Therapy Developmentmethodology: translational_research_guidanceBy funding and guiding medical research while aligning patient experiences with scientific and regulatory pathways, accelerates the development of therapies and a cure for APBD, because integrating clinical, translational, and patient-centered insights increases the likelihood of viable treatments.