3rd Annual

Nano-rare
Patient
Colloquium
2025

View Agenda

October 20-21, 2025

Cambridge, Massachusetts

Register for Free
In-person or virtual

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About the Event

Please consider joining us for our third n-Lorem Nano-rare Patient Colloquium.

At this event, you will be joining a community of care that consists of patients and their families, physicians and institutional representatives, n-Lorem leadership team members, industry leaders, partners, donors and supporters. Stay tuned as we release the full agenda!

Host & Venue

This Colloquium is hosted by Biogen

Biogen is a founding donor of n-Lorem and a leading global biotechnology company that has pioneered multiple breakthrough innovations. Biogen is advancing a pipeline of potential novel therapies across neurology, specialized immunology and rare diseases and remains acutely focused on its purpose of serving humanity through science while advancing a healthier, more sustainable and equitable world.
www.biogen.com

Boston Marriott Cambridge
50 Broadway
Cambridge, MA 02142

Reception & Art Auction

Please join us following the scientific poster session of the 2025 Nano-rare Patient Colloquium on Monday, October 20 from 6:45 to 8:30 PM, for an evening of connection, conversation, and community. Enjoy small bites and drinks as you mingle with fellow attendees, meet members of the nano-rare community, and silently bid on over 30 artworks created by n-Lorem patients. All auction proceeds will directly support our mission. We look forward to welcoming you warmly at the Boston Marriott Cambridge. See you there!

Sponsor

Do you or your organization want to sponsor the 2025 Nano-rare Patient Colloquium? Email [email protected]

Download Sponsor Packet

   

Rescue 7 Family Club

Rescue 7: Firefighters for Patients will be on-site at the 2025 Nano-rare Patient Colloquium! Founded by n-Lorem families, Rescue 7 will staff a dedicated area near the main Colloquium room with firefighters and first responders on both October 20 and 21. Families are invited to stop by, hang out, or drop off their children for fun, firefighting-themed activities while caregivers attend the event.

Questions? Contact: R[email protected]

Travel

Traveling to Cambridge?

Download Travel Packet

Day 1 — 2025 Nano-rare Patient Colloquium

Agenda — Monday, October 20

Subject to change
Click on an image to access biographical information

7:00 – 7:45 am

Check-in and Breakfast

7:45 – 8:00 am

Welcome and Colloquium Logistics

8:00 – 8:30 am

Presentation

Expanded Hope, Bigger Dreams

8:30 – 9:00 am

Presentation

Clinical Benefit: Lessons from the n-Lorem Experience 

9:00 – 9:15 am

Investigator Presentation

9:15 – 9:30 am

Investigator Presentation

Antisense Oligonucleotides:  A Precision Therapy Paradigm for SCN2A and Other Channelopathies

This presentation will discuss how causal monogenic variants associated with channelopathies present in children with developmental epileptic encephalopathy, characterized by medically refractory seizures, developmental delay, ataxia, autism, and choreoathetosis.  Individualized antisense oligonucleotides targeting SCN2A variants currently in clinical trial demonstrate favorable safety and efficacy signals.  This represents an emerging therapeutic approach for ASO application in SCN2A and other channelopathies with unmet need.   

9:30 – 10:00 am

Presentation

Treating for Life: Why the Data Matter

10:00 – 10:15 am

Q&A

Answering 

10:15 – 10:30 am

Break

10:30 – 10:50 am

Investigator Presentation

10:50 – 11:20 am

Presentation

ASOs Can Be Safely Developed for Nano-rare Patients: Insights from the n-Lorem Experience

11:20 – 11:50 am

Presentation

Every Step Matters: How Safety Shapes Our ASO Program Decisions from Discovery to Delivery 

11:50 – 12:00 pm

Awards

Heroes of n-Lorem

Our pioneering patients are paving a pathway for more nano-rare patients, providing valuable information on health and disease and experiencing, for the first time, targeted therapeutic intervention for their genetic conditions. Please join us as we hear their diagnostic stories from the patients and their families. We will follow these with case reports on these patient’s clinical experiences presented by the physicians who are so committed to caring for these patients.

12:00 – 1:00 pm

Lunch

Courtesy of Biogen

1:00 – 1:30 pm

Presentation

From Decision to Impact: Case-based Insights into ASO Drug Development for Nano-rare Patients

1:30 – 1:45 pm

Q&A

Answering 

1:45 – 2:15 pm

Expert Panel

Navigating the Complexities of Individualized ASO Development

Moderator

Panelists

2:15 – 2:45 pm

Patient Panel

Hope Realized; The Culmination of Effort, Perseverance and Belief in a Better Outcome

Our pioneering patients are paving a pathway for more nano-rare patients, providing valuable information on health and disease and experiencing, for the first time, targeted therapeutic intervention for their genetic conditions. Please join us as we hear their diagnostic stories from the patients and their families. We will follow these with case reports on these patient’s clinical experiences presented by the physicians who are so committed to caring for these patients.

2:45 – 3:30 pm

Expert Panel

Complexities in Long-Term Evaluation of Pediatric Neurodevelopmental and Neurodegenerative Diseases

3:30 – 3:45 pm

Break

3:45 – 4:15 pm

Presentation

Why Science Matters: Building a Scalable and Unmatched ASO Discovery Engine 

4:15 – 4:45 pm

Presentation

Advancing the Technology: The Next Chapter for ASO is Happening at n-Lorem 

4:45 – 5:00 pm

Q&A

Answering 

5:00 – 5:15 pm

Presentation

Connecting the Dots: Translating Research and Development into Clinical Impact 

5:15 – 6:15 pm

Scientific Poster Session

6:30 – 8:30 pm

Reception

Please join us after Day 1 of the 2025 Nano-rare Patient Colloquium for an evening of connection, conversation, and community. Enjoy small bites and drinks as you mingle with fellow attendees, meet members of the nano-rare community, and silently bid on over 30 artworks created by n-Lorem patients. All auction proceeds will directly support our mission. We look forward to welcoming you warmly at the Boston Marriott Cambridge. See you there!

Scientific Poster Session — Monday, October 20 / 5:15 – 6:15pm

Subject to change
Click on an image to access biographical information of n-Lorem team members

The Importance of Understanding Mutation-specific Biology, Exemplified by JIP3

This study highlights the importance of understanding mutation-specific biology, exemplified by a toxic gain-of-function mutation in JIP3 (R578C) that disrupts axonal transport, signaling pathways, and overall neuronal function. By elucidating the molecular proximal pathological mechanisms associated with this mutation, we have successfully identified allele-selective ASOs as the optimal therapeutic strategy.

Understanding and Reducing the Risk of Innate Immune Activation

Phosphorothioate antisense oligonucleotides (PS-ASOs) can activate the innate immune response via toll-like receptor 9 (TRL9), creating safety challenges in the clinic. Our research has uncovered how the PS-ASO-induced innate immune response is terminated. This work significantly advances our understanding of PS-ASOs, enabling the development of drugs that are better tolerated to improve outcomes for patients.

DYRK1A, a Discovery Case’s Evolution from Research to High-throughput Scalability

The current DYRK1A program has evolved from designing a small number of candidate ASOs to leveraging n-Lorem’s high-throughput n-of-1 Discovery pipeline. This work has enabled us to conduct rapid, rigorous and high-quality screening combined with functional studies to specifically target the pathogenic mechanism of this nano-rare disorder.

iPSC Strategies to Reduce Time and Cost in Disease Modeling

This work describes the establishment of an optimized iPSC-derived neuronal differentiation platform to streamline disease modeling for ASO screening. By utilizing patient-specific iPSCs, this approach offers a scalable, robust, and cost-effective solution for high-throughput ASO screening, significantly reducing timelines and costs in the preclinical discovery pipeline.

Progress in Creating Agonist-like ASOs for Patients with LOF Mutations

Building on foundational work from the Crooke lab and integrating our own AI-driven algorithm, we have developed a platform to identify and validate genomic regulatory elements that can be targeted by ASOs to upregulate protein expression. This therapeutic strategy has now established proof of concept protein upregulation and addresses haploinsufficiency and loss-of-function diseases through a mutation-independent approach, broadening its applicability across diverse patient populations.

Tackling RNA-caused Diseases: A Focus on RNU4-2

Mutations in U-rich RNAs are increasingly recognized as drivers of neurodevelopmental disorders. Although their short length and structured nature presents challenges, ASO technology offers a unique therapeutic opportunity. This work focuses on a recently identified mutation in RNU4-2, highlighting its functional characterization and n-Lorem’s therapeutic strategy to address its toxic effects.

Using ‘Omics’ Data to Inform and Refine ASO Design

This study illustrates how we apply our experience and deep expertise to harness insights from large-scale public genomic and transcriptomic datasets to inform multiple stages of ASO discovery; from feasibility assessment to design and optimization. We will also discuss the critical importance of selecting appropriate datasets to support informed and effective decision-making throughout this process.

Robust Safety Monitoring in n=1 Trials: A Scalable Approach from REDCap to PowerBI for Data Safety Monitoring Board Oversight

We present a scalable data lifecycle framework for n=1 trials, designed to support robust safety monitoring and Data Safety Monitoring Board (DSMB) review. Beginning with individualized protocol development, the workflow moves to custom REDCap electronic data capture (EDC) builds, remote data monitoring and cleaning, and direct export of cleaned data into PowerBI. Our PowerBI dashboards enable real-time, visualized safety review across adverse events, concomitant medications, labs, and other key safety measures.

From Sequence to Safety: Preclinical Assessment of Tolerability and Toxicology Profiles of ASOs

At n-Lorem, patient safety is the foundation of our discovery and development process. The development of optimal experimental ASOs depends on achieving excellent safety profiles, guided by rigorous tolerability and toxicology assessments throughout. This poster outlines n-Lorem’s comprehensive preclinical development approach for creating well-tolerated ASOs with favorable toxicological profiles. It will detail standard class-related in vivo findings, the primary types of toxicities encountered, and key safety considerations at each stage of preclinical development.

Ensuring Quality at Every Step in our ASO Manufacturing and Formulation

Our approach to antisense oligonucleotide (ASO) manufacturing ensures rigorous quality control from lead identification through GMP production. This poster outlines how, once a lead ASO is selected, we assess key development risks and timelines to inform the strategy for GMP drug substance manufacturing—either in parallel with or following toxicology batch production. The selected sequence is transferred to the drug substance CMO, and documentation preparation begins.  The GMP process involves several steps: amidite preparation, solid-phase synthesis, cleavage and deprotection, purification, ultrafiltration, and lyophilization. GMP drug substance is then transferred to the drug product CMO where it is further processed through formulation, sterile filtration, and filling into ready for dosing vials. Quality is ensured through comprehensive analytical testing, including HPLC purity/impurity profiling, sterility assessment and annual stability testing. These activities are executed in close partnership with trusted CDMOs to ensure consistency and compliance with regulatory standards.

Day 2 — 2025 Nano-rare Patient Colloquium

Agenda — Tuesday, October 21

Subject to change
Click on an image to access biographical information

7:15 – 8:00 am

Check-in and Breakfast

8:00 – 8:10 am

Presentation

Opening Remarks – Day 2

8:10 – 8:30 am

Presentation

Improvement in Developmental Disability from Genetically-targeted Treatments: What Have We Seen?

Genetic and developmental and intellectual disabilities (ID) have recently been a target for genetically-directed treatments that reverse the disease mechanism. We do not know how much, for which ages of patients, and for which conditions, reversal of the abnormal brain development and function is possible. Additional measurement issues for those with ID make this a complex problem to address. Some headway is gradually being made in this area, however, and it is only by attempting to reverse the cognitive and behavioral deficits in these disorders that we can understand how possible each is to reverse.

8:30 – 8:50 am

Investigator Presentation

8:50 – 9:20 am

Panel Discussion

Redefining What’s Possible: Clinical Perspectives on Developmental Gains in Treated Patients

9:20 – 9:40 am

Investigator Presentation

9:40 – 9:50 am

n-Lorem Presentation

9:50 – 10:00 am

Presentation

Creating Connectivity: Building a Community for the Nano-rare

10:00 – 10:15 am

Break

10:15 – 10:45 pm

Community Panel

Why Community Matters: A Conversation with Nano-rare Patients and Families

10:45 – 11:30 am

Patient Panel

In Their Words: Diagnostic Journeys and the n-Lorem Experience

11:30 – 11:40 am

Investigator Presentation

11:40 – 12:15 pm

Patient Panel

Hope Realized; The Culmination of Effort, Perseverance and Belief in a Better Outcome

Our pioneering patients are paving a pathway for more nano-rare patients, providing valuable information on health and disease and experiencing, for the first time, targeted therapeutic intervention for their genetic conditions. Please join us as we hear their diagnostic stories from the patients and their families. We will follow these with case reports on these patient’s clinical experiences presented by the physicians who are so committed to caring for these patients.

12:15 – 1:15 pm

Lunch

Courtesy of Biogen

1:15 – 1:45 pm

Presentation

World-class Precision Medicine Centers: Catalysts for Change in Nano-rare Disease Care 

1:45 – 2:30 pm

Patient Perspectives

Finding the Right Partner in Care 

2:30 – 2:45 pm

Investigator Presentation

2:45 – 3:00 pm

Break

3:00 – 3:30 pm

Presentation

The Future of Nano-rare: A Global Vision Rooted in Proven Impact

3:30 – 4:15 pm

Community Panel

Enabling the Mission: How the Community Can Help Advance n-Lorem’s Impact 

4:15 – 4:45 pm

Closing Remarks

We cannot do
this alone

Together we are changing the world—
one patient at a time

We hope that you join us on this journey to discover, develop and provide individualized antisense medicines for free for life for nano-rare patients. The ultimate personalized medicine approach – for free, for life.

We need your support

Join us on our Corps of Discovery of the mind and heart. Help us bring hope and potential help to nano-rare patients today. For free, for life.

Follow us on social for updates on our latest efforts