Clinical Trials
17
16 active
Approvals
0
Total approvals
Agencies
0
Regulatory bodies
Founded
2020
Active, not recruiting
10
58.8%
Completed
1
5.9%
Enrolling By Invitation
4
23.5%
Not yet recruiting
2
11.8%
No approval data available
- An investigational antisense oligonucleotide (ASO) reduced seizures by 90% in a 17-year-old with SCN2A-related developmental and epileptic encephalopathy, a rare genetic disorder. - Connor Dalby, who had never walked unassisted in his life, began taking independent steps approximately four months after his first intrathecal dose at age 14. - The allele-selective approach, published in *Nature Medicine*, knocks down the mutated SCN2A gene while sparing the healthy copy, a strategy that may generalize to many patients. - Researchers suggest this n-of-1 success demonstrates the potential for precision genetic medicines to address ultra-rare diseases at their molecular root cause.
- Two children with SCN2A-related developmental epileptic encephalopathy received allele-selective antisense oligonucleotides tailored to their individual mutations in n-of-1 trials published in Nature Medicine. - The 14-year-old patient experienced a 90% reduction in seizure frequency and walked independently for the first time at age 15, while the 9-year-old saw a 26% drop. - Both patients showed developmental gains in language, motor skills, and adaptive behaviors, with no serious adverse events reported over the two-year treatment period. - The investigational approach provides a model for rapidly translating personalized genetics into treatments for other monogenic neurological and non-neurological diseases.
- Servier has enrolled the first patient in a first-in-human Phase Ib/II study evaluating an antisense oligonucleotide (ASO) targeting KCNT1-related developmental and epileptic encephalopathy (KCNT1-DEE) in children. - The investigational ASO is designed to degrade KCNT1 mRNA, addressing the genetic root cause of this devastating early-onset epilepsy syndrome that currently has no curative or disease-modifying treatments. - Global clinical trial sites are now open and actively enrolling patients across the U.S., Europe, and Japan, with the asset developed internally by Servier scientists. - This milestone reinforces Servier's strategic commitment to rare neurological disorders, complementing a separate multi-target ASO research collaboration with the n-Lorem Foundation announced earlier in June 2026.
- PacBio announces strategic collaboration with n-Lorem Foundation and EspeRare to position long-read whole-genome sequencing as enabling infrastructure for individualized antisense oligonucleotide therapy development. - The collaboration will utilize PacBio's HiFi sequencing technology to improve ASO design feasibility and molecular characterization for nano-rare patients with 1-30 cases worldwide. - n-Lorem Foundation has received over 380 treatment applications, approved more than 200 nano-rare patients, and currently has more than 30 patients on experimental ASO treatment. - PacBio will donate sequencing reagents and provide scientific expertise to accelerate target validation and reduce the need for multiple sequential genomic tests in rare disease therapeutic development.
- A custom-built antisense oligonucleotide drug targeting the CHCHD10 gene mutation has slowed ALS progression by more than half in Dr. Rakesh Parekh, marking the first treatment for this specific genetic variant. - The personalized therapy, developed by the n-Lorem Foundation, cost $1.2 million and took three years to create but can now be adapted for other patients with the same mutation. - This breakthrough represents a new era of "N-of-1" medicine for ALS, with gene-targeting therapies showing potential to transform treatment for the 15-20% of patients with known genetic mutations.
