Therapies
We have deliberately chosen not to include any recommendations regarding the choice of drugs or other therapies on our website, with the exception of those that are the subject of clinical studies or clinical trials (see below).
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Scientific research is making significant progress in understanding the SLC6A1 gene mutation and in developing new therapeutic approaches. In particular, gene therapy currently represents one of the most promising avenues for achieving substantial and lasting improvements. In this regard, numerous research projects are ongoing worldwide, in collaboration with leading specialized centers.
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We recognize that epilepsy remains one of the most challenging symptoms to treat in individuals with SLC6A1 mutations. While some patients respond well to certain antiepileptic medications, others are resistant to drug treatment.
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There are, however, recent and encouraging reports suggesting that some medications may offer promising outcomes even for patients who are particularly difficult to treat. That said, robust clinical trials are still needed to confirm these observations. We warmly encourage families affected by SLC6A1 to join our support groups to find information, share experiences, and connect with others facing similar challenges.
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CLINICAL STUDIES AND CLINICAL TRIALS
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There is a study exploring the use of acetazolamide as an additional treatment for drug-resistant patients with SLC6A1 mutation. The study, titled "Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series", was published in Epilepsia Open on October 23, 2025.
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Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder – Tel Aviv University / Epilepsia Open cris.tau.ac.il
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Acetazolamide is a long-known drug, primarily used to treat idiopathic intracranial hypertension. However, this study suggests that it may also have therapeutic potential for patients with a SLC6A1 mutation.
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In this video, Gia Melikishvili, paediatric neurologist and epileptologist at MediClubGeorgia Medical Centre in Tbilisi, Georgia, explains how acetazolamide may be a treatment option for disorders related to the SLC6A1 mutation in drug-resistant patients.
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We would like to emphasise that, in the video, Professor Melikishvili advises against the simultaneous administration of acetazolamide and phenylbutyrate, as he believes that this combination could increase the risk of developing metabolic acidosis.​​
Gia Melikishvili
Moreover, one active compound – 4-phenylbutyrate – has undergone a clinical trial specifically targeting the SLC6A1 mutation, showing very positive results. The fact that the effectiveness of 4-phenylbutyrate for patients with a SLC6A1 mutation has been demonstrated is no coincidence. A heartfelt thank you goes to SLC6A1 CONNECT and Amber Freed for believing in and investing in the research behind this therapy.
In Switzerland, phenylbutyrate is available as sodium phenylbutyrate, marketed under the name Pheburane. Unfortunately, patients with SLC6A1 mutations in Switzerland still do not have access to this treatment option.
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We are confident that, in time, this active compound will be included in the Swiss Compendium not only for the treatment of urea cycle disorders—its current approved indication—but also for the SLC6A1 mutation and for certain other rare diseases. In the meantime, we advocate for immediate and unimpeded access to 4-phenylbutyrate for affected patients in Switzerland.
We would like to extend our sincere thanks to Dr. Zachary Grinspan, Director of the Pediatric Epilepsy Program at Weill Cornell Medicine, for his insightful presentation during the SLC6A1 CONNECT Symposium, held on December 5, 2024, in Los Angeles. During this event, Dr. Grinspan presented the results of the clinical trial examining the impact of Ravicti on children with mutations in the SLC6A1 and STXBP1 genes.
Zachary Grinspan
To ensure this video is accessible across all linguistic regions of Switzerland, we have transcribed and translated Dr. Grinspan’s speech into Italian, German, and French. We have done our best to keep the content as faithful as possible to the original. Please select your preferred language from the available options.
SLC6A1 SWITZERLAND would like to once again express its sincere gratitude for the valuable findings shared in this study. We hope to be able to share further important updates on potential treatments for the SLC6A1 mutation in the near future.