N-of-1 Therapy Development Statistics: 22 Key Facts Every Rare Disease Stakeholder Should Know in 2025
Comprehensive data compiled from extensive research on individualized genetic medicine development and personalized therapeutics
Key Takeaways
Traditional pharma leaves ultra-rare patients behind - Approximately 7,000 rare diseases affect 30 million Americans, with 95% having no FDA-approved treatment, creating urgent need for alternative therapeutic development approaches.
N-of-1 therapies transform impossibilities into options - Dozens of patients worldwide have received individualized genetic therapies, with multiple case reports showing clinical improvement or disease stabilization in select conditions, proving viability for previously untreatable diseases.
Platform approaches accelerate access - The field has experienced rapid growth in recent years, with some organizations aiming to standardize workflows with goals of reducing costs and timelines.
AI integration transforms development efficiency - AI/ML tools can rapidly screen and optimize candidate sequences in silico, potentially reducing lab iterations and timelines compared to months of traditional laboratory work.
Regulatory evolution enables rapid deployment - FDA allows case-by-case access via Individual Patient IND and Expanded Access pathways and issued a 2021 draft guidance on IND submissions for individualized ASOs, establishing frameworks for single-patient development.
Genetic foundation creates therapeutic opportunity - About 80% of rare diseases have genetic origins, making them candidates for precision medicine approaches that match treatments to individual patient mutations.
Funding models remain the primary access barrier - Many programs to date have relied on philanthropic and family funding, creating equity concerns that platforms addressing operational complexity can help resolve.
The Rare Disease Treatment Gap
1. 95% of rare disease patients lack any approved treatment option
Among the 7,000 recognized rare diseases affecting approximately 30 million Americans, 95% have no FDA-approved therapies available. This treatment desert exists because traditional drug development economics fail when patient populations fall below commercially viable thresholds. Half of all rare disease patients are children, many facing progressive conditions where delays mean irreversible damage or death. Source: FDA
2. 80% of rare diseases stem from genetic causes
Approximately 80% of rare diseases have genetic origins, creating a massive addressable opportunity for precision genetic medicines. This genetic foundation means most rare disease patients carry identifiable mutations that can be targeted through technologies like antisense oligonucleotides, gene therapy, or other genetic medicine modalities. For healthcare providers working with rare disease patients, whole genome sequencing becomes the critical first step in identifying whether N-of-1 therapeutic approaches may be viable. Source: Genome Medicine
3. Traditional drug development costs $0.9-2.8 billion over 10-15 years
Conventional pharmaceutical development costs range from $0.9 billion to $2.8 billion depending on methodology, spanning 10-15 years from initial research through regulatory approval. This massive investment requires patient populations large enough to generate hundreds of millions in annual revenue for commercial viability. For ultra-rare diseases affecting fewer than 100 patients globally, these economics create insurmountable barriers. Source: PharmacoEconomics
N-of-1 Development Economics and Timelines
4. Individualized therapies cost $1-3 million per patient to develop
N-of-1 antisense oligonucleotide therapies can be developed for $1-3 million per patient, representing over 99% cost reduction compared to traditional pharmaceutical development. Cost breakdown typically includes $300,000-500,000 for preclinical research, $400,000-800,000 for manufacturing, and $300,000-600,000 for regulatory and clinical expenses. While still substantial for individual families, this cost structure makes personalized medicine development achievable through foundation support and targeted fundraising. Source: National Academies Press
5. Manufacturing timelines span 6-12 months from design to delivery
Once therapeutic design is finalized, manufacturing timelines range from 6-12 months to produce deliverable drug products under Good Manufacturing Practice standards. This timeline includes sequence synthesis, formulation development, quality control testing, and stability studies required for FDA submission. Contract manufacturing organizations with established antisense oligonucleotide capabilities can execute parallel workflows that compress overall development timelines. Source: Social Science Research Network
6. Typical timelines from diagnosis to treatment span 18-24 months
For patients who successfully pursue N-of-1 therapy development, typical timelines from diagnosis to first treatment span 18-24 months in documented cases. This timeline includes genetic variant validation, funding acquisition, therapeutic design, preclinical testing, manufacturing, and regulatory approval processes. While substantially faster than traditional drug development's decade-plus timelines, 18-24 months remains challenging for patients with rapidly progressive diseases. Source: NIH
7. Platform approaches aim to reduce development costs and timelines
Some organizations aim to standardize workflows to reduce costs through replicable frameworks that eliminate duplicative efforts across N-of-1 programs. These platform approaches create efficiency by establishing standardized preclinical protocols, regulatory pathways, and manufacturing workflows. For platforms like Nome that coordinate complex pieces including geneticists, research labs, manufacturers, and regulators, this operational efficiency directly expands the number of patients who can access personalized therapeutics. Source: Life Science Leader
Clinical Outcomes and Patient Impact
8. Dozens of patients globally have received individualized N-of-1 therapies
Dozens of patients worldwide have received individualized genetic therapies designed specifically for their unique mutations. This milestone demonstrates proof-of-concept across multiple disease areas and genetic mechanisms, validating the scientific and operational feasibility of single-patient drug development. The actual number may be higher as some cases remain unpublished or proceed through private channels. Source: Nature
9. Multiple case reports show clinical improvement or disease stabilization
Multiple case reports of patients receiving N-of-1 therapies demonstrate clinical improvement or disease stabilization. While outcomes vary by disease mechanism, timing of intervention, and therapeutic approach, success typically manifests as halted disease progression rather than reversal of existing damage, emphasizing the importance of early intervention. For progressive neurodegenerative conditions, stabilization represents significant clinical benefit by preventing further functional loss. Source: BioMed Central
10. Reported adverse events are typically mild to moderate
Reported adverse events in N-of-1 antisense therapies typically include injection-site reactions, headache, fever, and elevated liver enzymes; most have been mild to moderate in case reports. Most effects resolve within 24-48 hours with supportive care. Post-dural puncture headache occurs in a minority of patients, with incidence often cited at 10-30% (lower with atraumatic needles), typically managed with hydration and rest. Source: NIH
Regulatory Framework and FDA Pathways
11. FDA allows individualized therapy access through established pathways
FDA allows case-by-case access via Individual Patient IND and Expanded Access pathways and issued a 2021 draft guidance on IND submissions for individualized ASOs. This growing acceptance reflects FDA's recognition that traditional clinical trial requirements are inappropriate for ultra-rare diseases affecting fewer than 20 patients globally. FDA's initial IND safety review is typically 30 days; overall time to treatment depends on manufacturing, IRB, and site logistics. Source: FDA
12. WGS diagnostic yields commonly range 30-50% in rare genetic disease cohorts
WGS diagnostic yields commonly range 30-50% in rare genetic disease cohorts, establishing clear disease causality and therapeutic targets. This diagnostic rate continues improving as variant interpretation databases expand and functional validation techniques advance. For the remaining patients, variants of unknown significance require additional research to confirm pathogenicity before therapeutic development can proceed. Source: BioMed Central
Market Growth and Infrastructure Development
13. The field has experienced rapid growth in recent years
The number of N-of-1 therapy programs has experienced rapid growth in recent years, reflecting field maturation and stakeholder acceptance. This growth stems from published success cases, regulatory pathway clarification, manufacturing capacity expansion, and increased foundation funding. Multiple academic centers and biotech groups worldwide are building N-of-1 capabilities, creating competitive market dynamics that drive continued cost reduction and timeline compression. Source: BIoMed Central
14. Multiple organizations worldwide develop N-of-1 platforms
Multiple academic centers and biotech groups worldwide are actively developing N-of-1 therapy platforms and infrastructure. These organizations range from academic medical centers with research focus to commercial entities seeking scalable business models. This emerging ecosystem creates capacity for simultaneous development of multiple therapies while establishing competitive dynamics that incentivize operational efficiency. Organizations like Nome's expert team bringing together specialists in AI, genetics, rare diseases, and drug development represent the multidisciplinary approach required for platform success. Source: NIH
15. Early prominent cases included Batten disease across multiple conditions
Early prominent cases included Batten disease, though indications now span multiple neurological and metabolic disorders. This concentration in initial cases reflected strong patient advocacy organizations, relatively well-characterized genetic mechanisms, and demonstrated proof-of-concept. While Batten disease represents the most developed application area, the field is rapidly expanding to other neurodegenerative conditions, metabolic disorders, and genetic diseases across multiple organ systems. Source: NIH
16. Many programs rely on philanthropic and family funding
Many programs to date have relied on philanthropic and family funding rather than pharmaceutical industry or government support. This funding model creates significant equity concerns, as access depends heavily on fundraising capacity, social media presence, and socioeconomic factors rather than medical need. Major foundations including n-Lorem Foundation and disease-specific organizations provide grants and infrastructure support, but sustainable funding mechanisms remain the field's primary challenge for scaling to thousands of potential patients. Source: ScienceDirect
Technology Integration and AI Impact
17. AI screening evaluates sequences in days versus months
AI/ML tools can rapidly screen and optimize candidate sequences in silico, potentially reducing lab iterations and timelines compared to months of laboratory work using traditional approaches. AI algorithms predict molecular efficacy, optimize structures, and identify potential safety concerns before synthesis, significantly accelerating the design phase. Platforms leveraging AI to analyze dozens of scientific papers and databases on genetic mutations transform months of manual research into streamlined computational analysis. Source: ScienceDirect
18. Platform systems coordinate complex multi-stakeholder workflows
Modern N-of-1 development requires coordination among geneticists, molecular biologists, contract manufacturers, regulatory consultants, and clinical providers across multiple organizations and geographies. AI-enabled platforms can manage all variables concurrently, tracking manufacturer capabilities and lead times, regulatory requirements across jurisdictions, and clinical trial protocols—creating the operational foundation for scaling personalized medicine from dozens to thousands of patients. Source: Nome
19. Data sharing from N-of-1 cases informs broader therapeutic development
Evidence from individualized programs establishes proof-of-concept for genetic targets applicable to broader patient populations sharing similar disease mechanisms. Molecular mechanisms demonstrated in N-of-1 cases for Batten disease have informed therapies for related lysosomal storage disorders, while data on antisense approaches for specific genes provide insights for other conditions affecting those pathways. This knowledge transfer means each N-of-1 therapy contributes to broader scientific understanding that benefits future patients. Source: NIH
Manufacturing and Quality Requirements
20. GMP manufacturing creates capacity bottlenecks as demand increases
FDA requires Good Manufacturing Practice standards for N-of-1 therapies despite production for single patients, including validated processes, quality control testing, stability studies, and comprehensive documentation. A limited number of contract manufacturers possess small-batch GMP antisense oligonucleotide capabilities, creating bottlenecks as field growth accelerates. Manufacturing capacity expansion represents a critical infrastructure need for scaling N-of-1 approaches to larger patient populations. Source: NIH
21. Each batch requires comprehensive quality testing protocols
Every individualized therapy batch undergoes identity confirmation, purity analysis, potency testing, endotoxin screening, and sterility verification before release. These quality control requirements mirror those for commercial drugs, adapted to individualized sequences and small batch volumes. Testing protocols leverage pharmacopeial standards for injectable drugs with specific acceptance criteria based on antisense characteristics and administration routes. Source: eCFR
22. FDA's initial IND safety review typically takes 30 days
FDA's initial IND safety review is typically 30 days; overall time to treatment depends on manufacturing, IRB, and site logistics. Expanded access pathways require robust preclinical data, manufacturing quality controls, and clinical monitoring plans but allow treatment outside of traditional clinical trials under defined conditions. Complete chain of custody documentation and manufacturing records are maintained for FDA review, ensuring patient safety while establishing regulatory precedent. Source: FDA
Frequently Asked Questions
What makes N-of-1 therapies different from traditional drug development?
N-of-1 therapies are developed for individual patients with unique genetic mutations rather than large patient populations. They cost $1-3 million versus $0.9-2.8 billion for traditional drugs, take 12-24+ months instead of 10-15 years, and proceed through FDA Individual Patient IND or Expanded Access pathways. This approach enables treatment for ultra-rare diseases affecting too few patients for conventional development.
How effective are N-of-1 therapies in clinical practice?
Multiple case reports show patients receiving individualized therapies demonstrate clinical improvement or disease stabilization. Success typically means halting disease progression rather than reversing existing damage. Dozens of patients worldwide have received these treatments, with growing evidence supporting feasibility across multiple disease types including neurodegenerative and metabolic disorders.
What role does AI play in N-of-1 therapy development?
AI/ML tools can rapidly screen and optimize candidate therapeutic sequences in silico, potentially reducing lab iterations and timelines compared to months of traditional laboratory work. AI also coordinates complex workflows among manufacturers, regulatory experts, and clinical providers—operational complexity that would be difficult to manage manually at scale. These technologies help accelerate timelines while improving therapeutic prediction.
How do patients access N-of-1 therapy development?
Patients need confirmed genetic diagnosis through whole genome sequencing (diagnostic yields commonly range 30-50%), access to specialized medical centers, and funding ($1-3 million) typically raised through foundations and family fundraising. Organizations offering platform access to providers and patient journey support help coordinate geneticists, manufacturers, and regulatory pathways. Typical timelines from diagnosis to treatment span 18-24 months in documented cases.
What are the main barriers to scaling N-of-1 therapies?
Primary barriers include funding models relying on philanthropic and family fundraising, limited GMP manufacturing capacity, and costs still exceeding $1 million per patient. Some organizations aim to standardize processes with goals of reducing costs and timelines. Sustainable scaling requires new funding mechanisms including insurance coverage, government support, and operational platforms addressing development complexity.
