Treatments & Therapeutic Development

There is currently no approved disease-specific therapy for SLC6A1-NDD. Treatment remains primarily symptomatic, while several drug-repurposing and molecular approaches are being investigated.

This page provides an evidence-based overview of treatments reported in individuals with SLC6A1-NDD and of emerging therapeutic approaches currently under clinical or preclinical investigation (Samanta, 2026).

The strength of evidence varies considerably between interventions, ranging from retrospective cohorts and case reports to prospective studies and preclinical research. Evidence level and important limitations are indicated throughout the page.

This information is intended for healthcare professionals and researchers and does not constitute clinical guidance. Treatment decisions should be individualised and made by qualified healthcare professionals.

Drug repurposing approaches

4-Phenylbutyrate

Phenylbutyrate is an established medication for urea cycle disorders that is being repurposed for SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD).

Preclinical studies have shown that 4-phenylbutyrate (4-PB) can improve GAT-1 trafficking and function, increase GABA uptake and reduce seizure activity in SLC6A1 disease models. (Nwosu et al., 2022; DeLeeuw et al., 2026).

Clinical research has expanded to include an early-phase clinical trial (with results reported in a preprint), prospective and retrospective observational studies, and real-world reports, primarily involving glycerol phenylbutyrate. These studies have reported improvements in seizure control, EEG abnormalities and, in some individuals, developmental or behavioural outcomes. However, responses vary, and adverse effects, including treatment discontinuation in some patients, have also been documented (Díaz-Gómez et al., 2026; van Walree et al., 2026; Barbour et al., 2026).

Phenylbutyrate is not yet approved specifically for SLC6A1-NDD, but the growing clinical evidence is helping build the foundation for potential future regulatory approval.

For more detailed information on phenylbutyrate and its potential role in SLC6A1-NDD, click the button below.

Phenylbutyrate for SLC6A1-NDD

Acetazolamide, a repurposed adjunctive treatment under investigation

Acetazolamide is a long-established carbonic anhydrase inhibitor that has also been used as an adjunctive antiseizure treatment in selected epilepsy syndromes.

Interest in acetazolamide for SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) has increased following the publication of an exploratory case series in individuals with genetically confirmed SLC6A1-NDD and drug-resistant seizures.

In this study, all six treated individuals experienced a substantial reduction in seizure frequency, with three becoming seizure-free. Improvements in ataxia, photosensitivity, social interaction and school engagement were also reported in several participants (Melikishvili et al., 2025).

These encouraging findings have identified acetazolamide as a potential repurposed adjunctive treatment for drug-resistant SLC6A1-related epilepsy. However, acetazolamide is not specifically approved for SLC6A1-NDD, and the available disease-specific evidence remains limited to a small uncontrolled case series. Larger prospective studies are needed to confirm efficacy and long-term safety.

For more detailed information on acetazolamide and its potential role in SLC6A1-NDD, click the button below.

Acetazolamide for SLC6A1-NDD

Antiseizure Medications (ASMs)

Valproate

Valproate has shown clinical benefit in several SLC6A1 cohorts and case reports, although treatment response varies between individuals (Samanta, 2026).

Key evidence

In the 2018 cohort by Johannesen et al., 10 of 15 individuals treated with valproate became seizure-free, either with valproate alone or in combination with other antiseizure medications; the remaining five achieved partial seizure control. In this cohort, valproate was reported by the authors as the most effective antiseizure medication (Johannesen et al., 2018).

Two individuals with isolated absence epilepsy achieved complete seizure control with valproate alone or in combination with ethosuximide (Caputo et al., 2023).

Johannesen et al. (2023) described a cohort of 15 adults with SLC6A1-NDD, of whom 11 had epilepsy and four were seizure-free. Reported treatments among these four individuals included lamotrigine alone, valproate alone, lamotrigine combined with valproate, and lamotrigine combined with brivaracetam (Johannesen et al., 2023).

A case report of a milder SLC6A1 phenotype with brief absence seizures described a marked reduction in epileptiform discharges and clinical response after valproate treatment (Posar & Visconti, 2019).

In a 2022 series of four individuals with SLC6A1 variants and myoclonic-atonic epilepsy, seizures were controlled with valproate alone or in combination with levetiracetam (Mermer et al., 2022).

A 2026 scoping review identified valproate as the antiseizure medication with the most consistently reported effectiveness across the available SLC6A1 literature, while emphasising that current evidence remains predominantly observational (Samanta, 2026).

More recent data presented at the 2025 International Epilepsy Congress from an internationally collected SLC6A1 cohort of 244 individuals reported that 60 patients had received valproate, with 53% reported as seizure-free (Johannesen et al., 2025).

Ethosuximide

Ethosuximide has been reported to be beneficial particularly for absence seizures in individuals with SLC6A1-related epilepsy. However, available evidence remains observational, and treatment response appears to depend on the individual seizure phenotype (Samanta, 2026).

Key evidence

In the 2018 SLC6A1 cohort, ethosuximide was among the antiseizure medications used in individuals who achieved seizure freedom, although the study did not report a specific response rate for ethosuximide (Johannesen et al., 2018).

In a 2023 report of two individuals with SLC6A1-NDD presenting with isolated absence epilepsy, one achieved complete seizure control with a combination of valproate and ethosuximide (Caputo et al., 2023).

A 2025 study combining a retrospective clinical series of 14 individuals with data from 14 additional families in the GenIDA participatory database reported generally favourable seizure outcomes and suggested that ethosuximide may be effective in several individuals with SLC6A1-NDD (Baer et al., 2025).

A 2026 scoping review identified ethosuximide among the antiseizure medications with the most consistently reported clinical benefit in SLC6A1-related epilepsy, particularly for absence and spike-wave-related seizure phenomena (Samanta, 2026).

Clobazam

Clobazam is commonly used in individuals with SLC6A1-related epilepsy, particularly as an adjunctive treatment. Published experience suggests that it can contribute to seizure control in some individuals, although response remains variable and the available evidence is observational (Shah et al., 2024; Samanta, 2026).

Key evidence

A 2024 review of SLC6A1 therapeutic approaches identified clobazam among the antiseizure medications commonly used in individuals with SLC6A1-related epilepsy, drawing on several published clinical series and case reports (Shah et al., 2024).

In a retrospective cohort from the Children’s Hospital of Philadelphia presented in 2025, 9 of 22 individuals with epilepsy (41%) had been treated with clobazam. Clobazam was significantly associated with maintenance of seizure freedom (OR 3.3) and with either seizure reduction or maintenance of seizure freedom (OR 1.4). As these findings are currently available as a conference abstract, they should be interpreted cautiously (Lusk et al., 2025).

In a 2023 clinical series, complete seizure remission was reported in one child after carbamazepine was replaced by a combination of valproate and clobazam. In another individual treated with several antiseizure medications including clobazam, tonic and atonic seizures were controlled, but daily absence seizures persisted, illustrating the variability of response (Trivisano et al., 2023).

A 2026 scoping review identified clobazam among the antiseizure medications with the most consistently reported clinical benefit in SLC6A1-related epilepsy, after valproate and lamotrigine, while emphasising that no SLC6A1-specific randomised controlled trials of antiseizure medications are currently available (Samanta, 2026).

Lamotrigine

Lamotrigine has been associated with seizure control in several individuals with SLC6A1-related epilepsy, either alone or in combination with other antiseizure medications. However, the available evidence is observational, and treatment response cannot currently be quantified reliably (Samanta, 2026).

Key evidence

In the 2018 SLC6A1 cohort, lamotrigine was among the antiseizure medications used in individuals who achieved seizure freedom, either alone or in combination with other treatments. However, the study did not report a lamotrigine-specific response rate (Johannesen et al., 2018).

Johannesen et al. (2023) described a cohort of 15 adults with SLC6A1-NDD, of whom 11 had epilepsy and four were seizure-free. Reported treatments among these four individuals included lamotrigine alone, valproate alone, lamotrigine combined with valproate, and lamotrigine combined with brivaracetam (Johannesen et al., 2023).

A 2026 scoping review identified lamotrigine, alone or in combination with valproate, among the antiseizure medications with repeatedly reported clinical benefit in SLC6A1-related epilepsy, while noting that the evidence is based on observational reports rather than controlled trials (Samanta, 2026).

Clonazepam

Clonazepam has been used in individuals with SLC6A1-related epilepsy, particularly in generalised epilepsy phenotypes and as part of combination therapy. Seizure control has been reported in some individuals, but the SLC6A1-specific evidence is limited, observational, and does not allow a reliable treatment-response rate to be established.

Key evidence

Carvill et al. (2015) reported clonazepam use in several individuals with epilepsy with myoclonic-atonic seizures. In one child, clonazepam combined with valproate stopped drop attacks, while in another individual with persistent myoclonic-atonic, absence and generalised tonic-clonic seizures, benzodiazepines including clonazepam and clobazam were considered important for seizure management (Carvill et al., 2015).

Johannesen et al. (2018) also documented clonazepam among the antiseizure medications used by individuals who achieved seizure freedom, either alone or in combination with other treatments. However, the study did not provide a clonazepam-specific response rate (Johannesen et al., 2018).

In a 2023 clinical series, one individual who had been treated with valproate, ethosuximide and clonazepam became seizure-free and subsequently remained seizure-free after antiseizure medications were discontinued. In another child, treatment with levetiracetam, lamotrigine and clonazepam had poor efficacy; clonazepam was also reported to worsen attention and behaviour and to induce irritability, which improved after the drug was withdrawn (Trivisano et al., 2023).

A 2024 review of therapeutic approaches in SLC6A1-NDD included clonazepam among the antiseizure medications commonly used in SLC6A1-related epilepsy, based on published clinical reports including Carvill et al. (2015), Johannesen et al. (2018) and Trivisano et al. (2023) (Shah et al., 2024).

Levetiracetam

Levetiracetam has been used in individuals with SLC6A1-related epilepsy and has been associated with seizure control in some cases. Behavioural adverse effects have also been reported and may limit its use in some individuals.

Key evidence

Johannesen et al. (2018) reported levetiracetam among the antiseizure medications used by individuals who achieved seizure freedom, either alone or in combination with other treatments. However, the study did not provide a levetiracetam-specific response rate (Johannesen et al., 2018).

A child with SLC6A1-related epilepsy with myoclonic-atonic seizures and a novel SLC6A1 variant was reported to remain seizure-free for eight months following treatment with levetiracetam (Li et al., 2025).

Mermer et al. (2022) described four individuals with SLC6A1 variants whose seizures were controlled with valproate alone or with a combination of valproate and levetiracetam. As treatment effects were not reported separately for each medication, the specific contribution of levetiracetam cannot be determined (Mermer et al., 2022).

GeneReviews notes that individuals with SLC6A1-NDD may experience intolerable behavioural adverse effects with levetiracetam at higher rates than those reported in the general population and recommends considering alternative antiseizure medications when significant behavioural effects occur (Goodspeed et al., 2023).

A 2026 scoping review confirms that levetiracetam is commonly used in SLC6A1-related epilepsy while specifically highlighting the need to monitor for behavioural adverse effects (Samanta, 2026).

Topiramate

Topiramate has been used in individuals with SLC6A1-related epilepsy, particularly in generalised and drug-resistant epilepsy phenotypes. Reported responses have been variable, and current evidence does not demonstrate a consistent SLC6A1-specific treatment effect.

Key evidence

Johannesen et al. (2018) reported topiramate use in an individual with atypical absence seizures, in whom treatment with topiramate combined with valproate was described as partially effective (Johannesen et al., 2018).

Topiramate has also been reported in other individuals with SLC6A1-NDD, generally as part of multidrug treatment regimens, making its individual contribution to seizure control difficult to determine (Samanta, 2026).

Melikishvili et al. (2025) reported that three of six individuals with drug-resistant SLC6A1-related epilepsy had previously been treated with topiramate before starting acetazolamide. The authors noted that topiramate and other carbonic anhydrase-inhibiting antiseizure medications had shown little or no consistent benefit in comparable patient populations, including individuals in their SLC6A1 cohort (Melikishvili et al., 2025).

Zonisamide

Zonisamide has been used in individuals with SLC6A1-related epilepsy, but SLC6A1-specific evidence remains limited and reported responses have been variable.

Key evidence

Johannesen et al. (2018) reported seizure freedom in an individual with myoclonic-atonic epilepsy treated with a combination of ethosuximide and zonisamide. As the medications were used in combination, the individual contribution of zonisamide cannot be determined (Johannesen et al., 2018).

Devries et al. (2020) described a child with absence seizures and drop attacks whose seizures persisted despite escalating doses of zonisamide. Valproate was subsequently added and was associated with a marked reduction in seizure burden (Devries et al., 2020).

Current reviews of SLC6A1 treatment do not identify zonisamide among the antiseizure medications with the most consistently reported evidence of clinical benefit, reflecting the limited SLC6A1-specific data currently available (Shah et al., 2024; Samanta, 2026).

Rufinamide

Rufinamide is an antiseizure medication approved as adjunctive therapy for seizures associated with Lennox–Gastaut syndrome (European Medicines Agency).

However, according to Samanta (2026), the currently available SLC6A1-specific evidence is too limited to establish a reliable treatment-response rate or to determine whether rufinamide provides consistent clinical benefit in SLC6A1-NDD. Its effectiveness in this disorder therefore remains uncertain and requires further study.

Brivaracetam

Brivaracetam has been used in individuals with SLC6A1-related epilepsy, but SLC6A1-specific evidence remains very limited and its individual treatment effect cannot currently be determined reliably.

Key evidence

Johannesen et al. (2023) described a young adult with atonic seizures who was initially seizure-free with lamotrigine. After seizure recurrence following treatment withdrawal, antiseizure therapy was reintroduced, and the individual was subsequently reported to be seizure-free while receiving lamotrigine and brivaracetam. As both medications were used together, the specific contribution of brivaracetam cannot be determined (Johannesen et al., 2023).

Verhoeven et al. (2022) described a 55-year-old adult with treatment-resistant SLC6A1-related myoclonic-atonic epilepsy who had received several antiseizure medications over time, including brivaracetam, without achieving seizure freedom. Because multiple medications were used sequentially or in combination, the response to brivaracetam cannot be assessed independently (Verhoeven et al., 2022).

A 2026 scoping review concluded that, although brivaracetam has been studied in other developmental and epileptic encephalopathies, specific evidence in SLC6A1-NDD remains insufficient to determine its effectiveness (Samanta, 2026).

Stiripentol

Stiripentol is an antiseizure medication authorised in the European Union as adjunctive therapy, in combination with clobazam and valproate, for refractory generalised tonic-clonic seizures associated with Dravet syndrome (European Medicines Agency).

Stiripentol enhances GABAergic neurotransmission through several mechanisms and can also produce clinically relevant interactions with concomitant antiseizure medications. Because SLC6A1-NDD results from dysfunction of the GABA transporter GAT-1, its GABAergic mechanisms have provided a rationale for exploring stiripentol in SLC6A1-related epilepsy. However, a disease-specific therapeutic effect has not been established.

Key evidence

Díaz-Gómez et al. (2025) presented a retrospective report of two individuals with SLC6A1-NDD and drug-resistant epilepsy treated with stiripentol as adjunctive therapy at the European Paediatric Neurology Society Congress. One individual became seizure-free following the introduction of stiripentol, while the second experienced a marked reduction in seizure frequency. Improvements in cognition and behaviour were also reported in both individuals. However, the conference abstract does not describe standardised cognitive or behavioural outcome measures. No important adverse effects were reported in these two individuals, although the small sample size does not allow conclusions about the safety of stiripentol in SLC6A1-NDD (Díaz-Gómez et al., 2025).

Cannabidiol (CBD)

Highly purified cannabidiol is an antiseizure treatment approved for selected drug-resistant epilepsy syndromes. Evidence specifically in SLC6A1-NDD remains very limited.

Key evidence

Cerulli Irelli et al. (2025) conducted a multicentre real-world study including 266 individuals with 77 different monogenic epilepsies. Only one individual with SLC6A1-NDD was included, and this individual did not achieve a ≥50% reduction in seizure frequency with highly purified cannabidiol (Cerulli Irelli et al., 2025).

Across the three individuals with disorders directly affecting GABAergic transmission — SLC6A1, GABRA3 and GABRG3 — the mean seizure reduction was 8.3%, and none achieved a ≥50% reduction in seizure frequency. Because this subgroup included only three individuals, these findings cannot establish the responsiveness of SLC6A1-NDD to cannabidiol (Cerulli Irelli et al., 2025).

Romito et al. (2025) described an adult with SLC6A1-NDD who received a combination of delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD). The combination was associated with optimal seizure control and a significant reduction in trunk-neck dystonia. As THC and CBD were administered together, the contribution of cannabidiol alone cannot be determined (Romito et al., 2025).

Non-pharmacological treatments

Vagus Nerve Stimulation

Vagus nerve stimulation (VNS) is an implantable neuromodulation therapy used as an add-on treatment for drug-resistant epilepsy when seizures are not adequately controlled with antiseizure medications. The implanted device delivers repeated electrical stimulation to the vagus nerve, with the aim of reducing seizure frequency and severity.

Evidence specifically in SLC6A1-NDD remains very limited, and more data are needed to understand which individuals may benefit from this treatment.

Key evidence

Johannesen et al. (2018) reported VNS treatment in one individual with SLC6A1-NDD and Lennox–Gastaut syndrome. A beneficial effect on seizures was not observed in this individual (Johannesen et al., 2018).

According to Samanta (2026), published experience with VNS in SLC6A1-NDD remains very limited. The available evidence is currently insufficient to determine treatment response or effectiveness specifically in SLC6A1-NDD.

Ketogenic and Low-Carbohydrate Dietary Therapies

Ketogenic and related low-carbohydrate dietary therapies are non-pharmacological treatments used in drug-resistant epilepsy. SLC6A1-specific reports suggest that these dietary approaches may reduce seizures in some individuals, although the available evidence remains based on small case reports and case series.

Key evidence

Carvill et al. (2015) reported ketogenic diet use in an individual with SLC6A1-related epilepsy with myoclonic-atonic seizures. The diet was described as effective, although it did not completely abolish seizures (Carvill et al., 2015).

Palmer et al. (2016) described a child with SLC6A1-related epilepsy with myoclonic-atonic seizures who showed a marked response to dietary therapy. A modified Atkins diet initially reduced absence seizures by approximately 85–90%. After transition to a ketogenic diet, myoclonic seizures were controlled, with occasional breakthrough absence seizures during intercurrent illnesses. Improvements in speech and development were also reported (Palmer et al., 2016).

Panda et al. (2024) reported a child with drug-resistant SLC6A1-related myoclonic-atonic epilepsy treated with low glycemic index therapy. Drop attacks decreased by approximately 65% after eight weeks, and seizure freedom was reported at six months while the child was receiving valproate together with dietary therapy. Improvement in autistic symptoms was also reported. Because valproate and dietary therapy were used together, the contribution of the diet alone cannot be determined (Panda et al., 2024).

A 2025 American Epilepsy Society case series described five individuals with genetically confirmed SLC6A1-related epilepsy and ongoing seizures despite multiple antiseizure medications who received low-carbohydrate dietary therapy, including modified Atkins diet or low glycemic index treatment. All five experienced a greater than 50% reduction in seizure frequency, and two also showed reported improvements in attention and behavioural regulation. No significant adverse reactions were reported. These findings are currently available as a conference abstract (Kim et al., 2025).

These dietary therapies should be initiated and monitored under the supervision of an experienced medical team, including a dietitian, to ensure adequate nutrition and monitor potential adverse effects (Kossoff et al., 2018).

Symptomatic & Supportive Management

Supportive care is an important part of the management of SLC6A1-NDD and should be adapted to the individual needs of each person. A multidisciplinary approach can help support development, communication, mobility, behaviour, sleep, nutrition and overall quality of life (Goodspeed et al., 2023).

Development and communication

Developmental progress should be assessed regularly. Speech and language therapy, occupational therapy and appropriate educational support may help address individual developmental needs. For individuals with limited expressive language, augmentative and alternative communication (AAC) should be considered to support communication (Goodspeed et al., 2023).

Motor function and movement

Physical and occupational therapy can support gross and fine motor skills, mobility and independence in daily activities. Individuals with significant hypotonia, ataxia or other movement difficulties may also benefit from assessment by rehabilitation, orthopaedic or movement-disorder specialists and, when needed, adaptive equipment or mobility aids (Goodspeed et al., 2023).

Feeding and gastrointestinal care

Feeding, nutrition and gastrointestinal problems should be assessed individually. Support may include nutritional evaluation, feeding therapy and standard treatment for gastrointestinal difficulties such as constipation or diarrhoea (Goodspeed et al., 2023).

Behaviour and sleep

Behavioural and sleep difficulties are important components of SLC6A1-NDD and should be assessed systematically as part of ongoing care. A 2026 natural-history study found that standardised assessment identified clinically significant sleep difficulties more frequently than caregiver reports alone, and greater sleep disturbance was associated with more behavioural problems. Management should be individualised and may include sleep assessment, behavioural strategies and, when appropriate, specialist or pharmacological support (Goodspeed et al., 2023 ; Varnet et al., 2026).

Family support and care coordination

Because SLC6A1-NDD can involve multiple medical, developmental and educational needs, coordinated multidisciplinary care and access to family, social and respite support can be important components of long-term management (Goodspeed et al., 2023).

Therapeutic Development

Gene Replacement Therapy

Gene replacement therapy aims to address the underlying cause of SLC6A1-NDD by delivering a functional copy of the SLC6A1 gene to cells in the central nervous system, with the goal of restoring GAT-1 expression and function.

This approach has now progressed beyond preclinical research. In 2025, the first known individual with SLC6A1-NDD received an investigational SLC6A1 gene replacement therapy as part of a first-in-human Phase I/II study. Clinical efficacy results have not yet been published.

Current Research and Development

Guo et al. (2025) evaluated AAV9-mediated delivery of human SLC6A1 in mouse models of SLC6A1 deficiency. Gene replacement improved or normalised EEG abnormalities in heterozygous mice and produced improvements in several disease-related phenotypes. However, adverse effects, including mortality, were observed in some mice treated by intracerebroventricular injection during the neonatal period, while other administration protocols were better tolerated. These findings highlight the importance of treatment timing, route of administration and controlled SLC6A1 expression for both efficacy and safety (Guo et al., 2025).

A first-in-human Phase I/II intrathecal gene-delivery study is underway at Nationwide Children’s Hospital in the United States (NCT07173153). The study uses an AAV9 vector carrying SLC6A1 and is designed as an N-of-1 study for a participant with the SLC6A1 p.Ser295Leu (S295L) variant. Importantly, one patient has already received this investigational therapy. The primary objective is to assess safety over three years, while developmental and behavioural outcomes are also being monitored. No clinical efficacy results have yet been published (NCT07173153), (Nationwide Children's Hospital – First SLC6A1 gene therapy).

A separate preclinical programme is developing cell-selective AAV gene replacement for SLC6A1-NDD. Experimental work presented by Gore et al. (2025) showed that targeting SLC6A1 expression specifically to inhibitory neurons restored GABA uptake and improved epileptiform activity, motor abnormalities and learning-related phenotypes in a mouse model. In contrast, broad neuronal expression was associated with safety concerns, highlighting the potential importance of cell-specific delivery (Gore et al., 2025).

In 2026, EpiCure Therapeutics received an NIH Phase II SBIR award to further develop a cell-selective AAV gene therapy for SLC6A1-NDD, including approaches targeting inhibitory neurons and astrocytes and optimisation of AAV capsids. This programme remains in preclinical development (NIH RePORTER, 2026).

Antisense Oligonucleotides (ASOs)

Antisense oligonucleotides (ASOs) are short, synthetic molecules designed to bind specific RNA sequences and modify how genetic information is processed. Unlike gene replacement therapy, ASOs do not introduce a new copy of the gene or alter DNA.

For SLC6A1-NDD, researchers are exploring approaches to increase the production of functional GAT-1 from the unaffected SLC6A1 gene copy, as well as personalised ASOs designed to correct abnormal RNA splicing caused by specific genetic variants.

These strategies remain experimental, and their safety and clinical effectiveness in SLC6A1-NDD have not yet been established (Samanta, 2026).

Current Research and Development

Researchers at UMass Chan Medical School developed splice-modulating ASOs designed to increase SLC6A1 RNA expression. Experiments in cultured human neuroblastoma cells showed increases in SLC6A1 mRNA levels of up to 2.5-fold. These results were disclosed in a patent application and represent early preclinical evidence. Further research is needed to determine whether increased RNA expression translates into improved GAT-1 function (Pai et al., 2021).

An Australian research programme is developing a personalised ASO for a child with SLC6A1-NDD caused by a splice-altering variant. According to the Saving Sasha research team, ASO candidates tested in patient-derived neurons increased correctly spliced SLC6A1 RNA, with the strongest candidate producing approximately a 2.7-fold increase compared with untreated cells. These results have been reported by the project team but have not yet been published in a peer-reviewed study. Candidate selection, manufacturing and preclinical safety testing are still required before the investigational ASO can be administered to the patient (Saving Sasha, 2026).

The Florey Institute of Neuroscience and Mental Health in Melbourne is pursuing SLC6A1-targeted ASO development, supported by patient-family fundraising. The programme aims to advance experimental RNA-based therapies towards clinical application, but SLC6A1-specific clinical results have not yet been published (SLC6A1 Kids; The Florey).

A 2026 scoping review described ASO-mediated enhancement of functional SLC6A1 expression as a potential therapeutic strategy. However, no peer-reviewed SLC6A1-specific ASO treatment studies were available at the time of the review (Samanta, 2026).

Medical Disclaimer

The information provided on this page is intended for educational and informational purposes only and does not replace professional medical advice, diagnosis or treatment.

Treatment responses in SLC6A1-NDD vary between individuals, and evidence supporting some of the approaches described remains limited or preliminary.

Treatment decisions should always be made in consultation with qualified healthcare professionals, taking into account each individual's clinical needs and medical history.

Last update: October 2026.