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Table 1. Links to information, resources, and funding opportunities mentioned in the text
Resource Site Description
NCATS https://ncats.nih.gov/about/ This overview covers NCATS history since its inception in 2011. DRDRI is a division
center/history of NCATS, which is a center within the National Institutes of Health
Rare diseases act of https://www.congress.gov/107/ This law established an Office of Rare Diseases and increased the national
2002 (public law 107- plaws/publ280/PLAW- investment in the development of diagnostics and treatments for patients with rare
280) 107publ280.pdf diseases and disorders
Rare disease day at https://ncats.nih.gov/rdd This annual event raises awareness about rare diseases, the people they affect, and
NIH https://ncats.nih.gov/events/ NIH collaborations that address scientific challenges and advance research for new
rdd/past-events treatments
Genetic and rare https://rarediseases.info.nih.gov/ GARD is a website and phone line that aims to support people living with a rare
diseases (GARD) disease and their families with free access to reliable, easy-to-understand
information center information
NCATS toolkit for https://ncats.nih.gov/research/ This resource repository educates and empowers patient advocacy groups to
patient-focused research-resources/ncats-toolkit accelerate research
therapy development
RePORTER https://reporter.nih.gov/ This platform has specific information on all NIH-funded research, including DRDRI
programs
Rare diseases clinical https://www. The RDCRN is a network of clinical research consortia and a Data Management and
research network rarediseasesnetwork.org/ Coordinating Center (DMCC), and each consortium actively partners with patient
(RDCRN) advocacy groups
Impact of rare https://ncats.nih.gov/news- DRDRI and collaborators quantified the prevalence of rare disease patients and the
diseases on patients events/news/nih-study-suggests- direct medical costs of 14 representative RD within 4 different healthcare system
and healthcare people-with-rare-diseases-face- databases. DRDRI has a contract to inform methods for clinical decision support
systems (IDeaS) significantly-higher-health-care- tools to alert clinicians to possible cases of rare diseases
initiative costs
Clinical Trial https://ncats.nih.gov/programs/ This program supports projects focused on collecting the data needed to move
readiness (CTR) clinical-trial-readiness promising rare disease therapies and diagnostics to clinical trials
grants
Diagnostic odyssey https://ncats.nih.gov/programs/ This two-phase program supports clinical projects that address the critical need for
grants diagnostic-odyssey timely identification and accurate diagnosis of rare disease patients
Conference grants https://ncats.nih.gov/funding/ This program supports conferences, specifically research opportunities for rare
open/conference-grants diseases and including patient support groups
Shared molecular Mitochondrial disease basket trial These funded projects support basket trials in multiple rare diseases for drugs
Etiologies (SaME) https://reporter.nih.gov/search/ targeting shared molecular etiologies across multiple different diseases
rP54qWIDQE-L2dHSuxSfow/
project-details/10301261
Jak-Stat pathway basket trial
https://reporter.nih.gov/search/
RTARcTDftU-aPHFm7mZ3Bw/
project-details/10476619
IRDiRC shared https://irdirc.org/shared- This DRDRI-initiated task force extends the basket trial approach in rare diseases
molecular etiologies molecular-etiologies/ internationally
task force
Platform vector gene https://pave-gt.ncats.nih.gov/ This program tests the hypothesis that using the same AAV serotype,
therapies (PaVe-GT) https://pave-gt.ncats.nih.gov/ manufacturing, and production facilities for multiple AAV gene therapies can
outputs increase the efficiency of the start-up of AAV gene therapy trials. The second link
goes to the Orphan Drug Designation template resources
Accelerating https://fnih.org/our-programs/ This Foundation for the NIH public-private partnership is focused on streamlining
medicines partnership accelerating-medicines- the regulatory path for AAV gene therapies, with a specific focus on diseases of no
(AMP) program partnership-amp/bespoke-gene- current commercial interest
bespoke gene therapy therapy-consortium-bgtc/
consortium (BGTC)
Bespoke gene therapy https://fnih.org/wp-content/ The Accelerating Medicines Partnerships® (AMP®) Bespoke Gene Therapy
consortium (BGTC) uploads/2024/02/BGTC- Consortium (BGTC) recognized the need for a comprehensive playbook that would
regulatory playbook Regulatory-Playbook-preliminary- serve as a guiding framework for the development and regulatory submission of
version 1.0 FINAL-FOR-RELEASE_20240205. adeno-associated virus (AAV) gene therapies for rare diseases. Building out this
pdf playbook to support the key processes up to a sponsor’s first-in-human (FIH) trial
required a collaborative and modular approach. Version 1.0 of the playbook is
designed to serve as a one-stop-shop guide and roadmap to investigational new
drug (IND) submission for these innovative gene therapies
Somatic cell genome https://commonfund.nih.gov/ This NIH Common Fund program is accelerating genome editing technologies into
editing (SCGE) editing the clinic. Phase 1 focused on technology development, and on better ways to deliver
genome editing in different cells and tissues. Phase 2 is more focused on moving
into the clinic