The Data Safety Monitoring Board (DSMB) is composed of distinguished, independent experts in antisense oligonucleotide (ASO) technology, clinical trial design and evaluation, and drug development. Many are also dedicated clinicians who care for patients with rare diseases. This board provides unbiased safety oversight by reviewing accumulated data from all investigator-initiated studies involving n-Lorem’s ASO medicines.

n-Lorem's DSMB is chaired by Dr. Eugene Schneider, Executive Vice President and Chief Clinical Development and Operations Officer at Ionis Pharmaceuticals.

On This Episode We Discuss:

• 2:20 – What is the Data Safety Monitoring Board at n-Lorem?
• 6:50 – Monitoring the data from each and every treated n-Lorem patient is essential
• 9:40 – The DSMB consists of a collection of physicians and other experts
• 13:20 – As the number of n-Lorem patients grows, the DSMB’s responsibilities have expanded significantly—yet members remain deeply committed to supporting the mission
• 17:05 – The DSMB’s goal is to avoid any ASO-related serious adverse events (SAEs) and minimize adverse events
• 19:20 – During his time as Chair of the DSMB, Eugene has learned lessons in patience and humility
• 21:00 The judgements of monitoring boards can and will affect lives

Links: n-Lorem 2025 Nano-rare Patient Colloquium: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Donate to support n-Lorem programs: https://www.nlorem.org/donate/

Hongene Biotech: https://www.hongene.com/

Connor Gooley is the first patient ever treated with an ASO for TUBB4A-Related Leukodystrophy, a condition that severely disrupts his nervous system, slows nerve impulses, and impairs his fine motor skills. As a result, Connor cannot speak, walk, sit up on his own, or chew well. Still, he manages to army crawl, propel himself in his wheelchair, and use a gait trainer. He’s also remarkably resilient—rarely crying or complaining despite the daily challenges he faces.

In this episode of the Patient Empowerment Program, Connor’s parents, Diana and Mike, share their family’s journey from diagnosis to treatment and reflect on their observations of Connor after more than six months on an n-Lorem discovered and developed treatment.

On This Episode We Discuss:

1:33 Shaking eyes were the first sign of Connor’s rare disease

4:10 An MRI revealed little to no myelin, leading to whole genome sequencing and an eventual TUBB4A genetic mutation diagnosis

7:10 Connecting with another family with the same mutation

10:00 Finding n-Lorem through a ‘seeking patient candidates’ advertisement in a Global Genes annual report

12:26 Contextualizing Connor’s TUBB4A mutation in simple terms

21:19 How rare diseases affect families and creating a new normal

27:41 Receiving treatment in Boston and contemplating the decision to agree to an experimental treatment for their son

32:00 Observations after 6 months on treatment

35:45 n-Lorem has given the Gooley family hope for a better future for Connor

Links:

Hongene Biotech: https://www.hongene.com/

Donate to n-Lorem / Support nano-rare: https://www.nlorem.org/donate/

n-Lorem 2025 NRPC: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Induced pluripotent stem cells (iPSCs) are a groundbreaking, and mind-blowing, scientific advancement—one of many that help make it possible for n-Lorem to do what we do. In short, typical skin cells (such as fibroblasts) are taken from an individual and reprogrammed using specific factors to become iPSCs. These iPSCs are then redifferentiated into any desired cell type in the body, such as muscle or liver cells. You can do that? Yes, and we do! The most common cell type that we use at n-Lorem are neurons (nerve cells). These cells are not easily accessible in living humans without serious surgeries and that is why scientists instead use iPSCs to grow them.

On This Episode We Discuss: 1:23 - What are Induced Pluripotent Stem Cells? 5:45 - Chromatin – compressed DNA and proteins 9:13 - Differentiation and de-differentiation 10:26 - Transcription and transcription factors 12:35 - Why are iPSCs important? 15:20 - Making iPSC and re-differentiating them into the cells we study is time consuming and expensive Important Links: n-Lorem 2025 Nano-rare Patient Colloquium - https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Support nano-rare with a donation to n-Lorem: https://www.nlorem.org/donate/ Learn about Hongene Biotech: https://hongene.com/