Nature Medicine Publishes Positive Clinical Observations of n-Lorem Treated KIF1A Nano-rare Patient

n-Lorem, a nonprofit foundation, released a detailed case study highlighting the treatment outcomes of a nano-rare patient who received a personalized experimental antisense oligonucleotide (ASO) medicine, developed specifically for her condition. The patient, Susannah, suffers from KIF1A-associated neurological disorder (KAND), a severe neurodevelopmental and neurodegenerative disease.

Susannah's doctors, Wendy K. Chung, M.D., Ph.D., from Boston Children’s Hospital, and Jennifer M. Bain, M.D., Ph.D., from Columbia University Irving Medical Center, co-authored the study with n-Lorem. The case study was published in Nature Medicine, detailing Susannah’s significant improvements in seizure frequency, motor skills, and overall quality of life following the treatment.

Before beginning the treatment, Susannah experienced between 100 and 290 seizures daily over a 50-day period. After receiving her first dose of the personalized ASO medicine developed by n-Lorem, the number of seizures reduced dramatically to fewer than 30 per week, maintaining this lower rate consistently. Her ability to walk also saw noteworthy improvements. Prior to treatment, Susannah experienced an average of 26.2 falls daily, but a month into treatment, the falls decreased to a maximum of seven per day, with some days seeing no falls at all. Additionally, her speech, attention, engagement in group activities, and motor function showed notable enhancement while her cognitive abilities remained stable. Susannah has been on the ASO treatment for 20 months, showing a favorable safety and tolerability profile.

Dr. Wendy Chung emphasized the primary goal was to halt the progression of Susannah's often fatal disease, marking the first instance a medicine has targeted the genetic cause of KAND, providing substantial clinical benefits. Although the medicine was tailored to Susannah's genetic sequence, there is hope it could benefit more KAND patients. The KOALA study (KIF1A Outcome measures, Assessments, Longitudinal And endpoints study) is critical in this context, as it aims to evaluate patients' clinical status and genetic sequences to determine potential candidates for this treatment.

Dr. Jennifer Bain highlighted the personalized nature of n-Lorem’s approach, where an individual’s genetic profile guides the treatment. She noted the significant improvements Susannah made, from using a wheelchair extensively to walking, climbing stairs, and playing basketball with her brother. This progress sparks hope that insights gained from Susannah’s case could assist other KAND patients.

KAND is a severe disorder caused by over 100 mutations in the KIF1A gene, leading to brain and optical nerve atrophy, epilepsy, cognitive impairment, and peripheral neuropathy. It often requires multiple ASOs to treat all patients affected by these mutations. Dr. Wendy Chung’s team is conducting the KOALA study to better understand KAND symptoms and their progression, aiming to advance research through standardized longitudinal assessments.

Stanley T. Crooke, M.D., Ph.D., Founder, Chairman, and CEO of n-Lorem Foundation, expressed immense satisfaction with Susannah’s progress. Before the treatment, she was mostly in a wheelchair, nearly nonverbal, and suffered from debilitating seizures. After more than 20 months on ASO treatment, Susannah shows improved mobility, neurological function, and quality of life.

n-Lorem developed Susannah’s personalized medicine, first administered in October 2022 at Columbia University Irving Medical Center. She remains under treatment there and continues to experience positive clinical outcomes. Dr. Crooke underscored the potential of personalized ASO medicines to offer significant therapeutic benefits for many nano-rare patients. By focusing on one patient at a time, the foundation hopes to gather insights that will benefit broader patient communities and enhance understanding of single-gene mutation diseases.

n-Lorem Foundation aims to provide experimental ASO medicines to nano-rare patients, defined by their extremely small numbers worldwide, who often have no other treatment options. By developing individualized ASO medicines, n-Lorem seeks to correct genetic abnormalities rapidly, inexpensively, and specifically. The organization has received over 280 treatment applications and approved more than 130 nano-rare patients to date.