Post authored by: Jeff Cottrell, PhD, Morgan Weberg, BS, and Melody Kisor, MS, BCPA
A recent research study published in the Proceedings of the National Academy of Sciences (PNAS) from researchers at Yale University generated great interest in the SCN2A community. It has also been picked up by the national news media as a potential inexpensive treatment for autism symptoms.
We understand that findings like this raise hope and that families have questions and want to know the next steps. The FamilieSCN2A Foundation is committed to explaining the results in a way that is relevant and meaningful to the SCN2A community.
What the Study Found
In this preclinical research study, researchers used zebrafish that carry mutations in genes linked to neurodevelopmental conditions. Zebrafish are often used in early research because they develop quickly and allow scientists to screen many compounds at once. The team tested a range of existing drugs and supplements to see whether any could “normalize” patterns of behavior seen in these models. Levocarnitine emerged as one of several compounds that shifted certain behavioral features in the fish closer to those seen in unaffected control fish. The researchers also explored this finding in human neurons grown in a dish (iPSC-derived neurons) and observed a signal suggesting there may be some biological activity worth studying further.
A Note on Drug Repurposing Studies
This type of work falls under drug repurposing, which means looking at medications or supplements that are already approved or widely used for one condition and testing whether they might be helpful for another. Drug repurposing research can be conducted using computer models or in research labs using animal or cell models. Drug repurposing can be appealing because these compounds often already have known safety profiles, which can sometimes make it faster and less costly to move into clinical testing.
At the same time, it’s important to recognize the gap between early laboratory findings and real-world treatment. Results from neurons grown in a dish do not directly tell us whether a compound will work in a person, or even what dose would be needed to have an effect in the brain. Many factors, such as how the drug is absorbed, distributed, and metabolized in the body, whether it reaches the brain at sufficient levels, and whether it has unintended effects, cannot be captured in these simplified systems. Before moving toward clinical use, findings like these typically need to be confirmed in more complex models, such as mouse studies, which introduce additional layers of biology and also bring their own challenges in terms of cost, time, and interpretation.
Findings from zebrafish or early cellular experiments often do not translate into meaningful benefits in humans. Many compounds that look promising in early screens do not ultimately prove effective in clinical trials. As a result, early signals like this are best viewed as a starting point for further investigation, rather than evidence that a treatment is ready for use in people. Promising results in preclinical work may ultimately lead to clinical trials with humans. However, it’s important to emphasize that families should not be experimenting at home without clinical guidance, even if a drug or supplement is readily available.
The Importance of Preclinical Research
Even though the zebrafish study does not point to an immediate treatment, it can still be a valuable contribution to the drug development process for SCN2A. The results may help researchers better understand underlying biology, such as potential links to metabolic pathways, and guide future studies in more patient-relevant models. This is one step in a long process that, over time, can lead to new therapeutic approaches.
Why the study is considered early-stage research
Although these findings are scientifically interesting, they are still at an early stage:
- The primary data come from zebrafish, which are useful for screening but do not fully model human brain biology or SCN2A-specific disease mechanisms.
- The human neuron data are limited, representing a small, controlled laboratory experiment performed in a dish (in vitro) rather than a demonstration of consistent or clinically meaningful effects.
- The outcomes measured are indirect, such as changes in behavior or cellular signals, rather than clear evidence of disease modification or symptom improvement in people.
- Studies like this are designed to identify possible leads, not to establish treatments.
Next steps for the FamilieSCN2A Foundation
It is our great honor and privilege to be the go-to resource for families, clinicians, and researchers. When the Foundation learns about new research, our whole team immediately jumps into action.
- Our medical and scientific experts gather to thoughtfully and carefully review the new information.
- Our advocacy and outreach teammates rally to support the community in understanding and interpreting science communications.
- Our science and research team connects with the researchers to understand their work, and may extend invitations to present to TASCO, the MSAB, the SCN2A research network, or directly to the community at a Town Hall meeting or the annual conference.
- Our leadership considers the potential benefit to the community, and prioritizes future research funding opportunities.
Next steps for individuals and families
With an increase in momentum for SCN2A research and exciting progress within scientific developments, it is important to stay aware and interpret information that you might see online thoroughly.
We strongly encourage families to:
- Sign up for our newsletter to stay up to date
- Join the SCN2A Dragonfly Patient Registry to provide critical information for drug development
- Visit our website to learn about research and clinical trial opportunities, see key publications, and view our glossary to help understand research vocabulary
- Hear directly from researchers and ask questions at our monthly Town Hall meetings
- Attend the 2026 Family & Professional Conference
- Share questions in our SCN2A Global Support Network
- Refer your medical team to our clinician information page and SCN2A Learning Portal
As always, families should speak with their medical team about their loved one’s care management before making any changes to treatment or supplement use.
Bottom Line
At this time, there is no clinical evidence that levocarnitine is an effective treatment for SCN2A-related disorders. Families should always consult with their medical team before trying or changing any treatments.
We will continue to closely monitor the research and keep the community informed at every step of the journey toward treatments for SCN2A-related disorders.
With gratitude,
FamilieSCN2A Foundation Team
Leah Myers – Executive Director
Jeff Cottrell – Chief Scientific Officer
Amanda Gale – Director of Programs & Operations
Angie Weaver – Director of Philanthropy & Development
Melody Kisor – Director of Advocacy & Education
Morgan Weberg – Research Coordinator
