SLC6A1 Connect is a non-profit organization dedicated to supporting families affected by SLC6A1-related epilepsy (also known as SLC6A1 encephalopathy or Myoclonic-Atonic Epilepsy, MAE) and advancing research on this rare genetic disorder. The organization serves as the primary patient advocacy group for the SLC6A1 community.
To improve the quality of life for individuals with SLC6A1-related epilepsy and their families through research funding, family support, education, and advocacy.
SLC6A1 Connect was founded by parents of children diagnosed with SLC6A1-related epilepsy. The organization was established to address the lack of dedicated research and support for this recently identified genetic epilepsy disorder.
SLC6A1-related epilepsy is a rare genetic disorder caused by variants in the SLC6A1 gene, which encodes the GAT-1 GABA transporter. Key characteristics include:
- Seizure onset: Typically between 6 months and 5 years of age
- Seizure types: Primarily myoclonic-atonic seizures (drop attacks), also tonic-clonic, atypical absence
- Epilepsy syndrome: Often classified as Myoclonic-Atonic Epilepsy (MAE) or Dravet-like
- Intellectual disability: Varying degrees of cognitive impairment
- Developmental delays: Motor and speech delays
- Movement disorders: Some patients exhibit ataxia or other movement issues
SLC6A1 encodes GAT-1 (GABA transporter 1), which is responsible for reuptake of GABA (the main inhibitory neurotransmitter) from the synaptic cleft. Pathogenic variants reduce GABA reuptake, leading to reduced inhibitory signaling and seizures.
- Research grants: Supporting basic science and translational research on SLC6A1
- Therapy development: Funding gene therapy, ASO, and small molecule programs
- Natural history studies: Understanding disease progression and identifying outcome measures
- Preclinical models: Supporting development of animal and cellular models
- Patient registry: Database of SLC6A1 patients for research recruitment
- Trial matching: Connecting families with relevant clinical trials
- Site development: Supporting clinical trial infrastructure
- Industry partnerships: Facilitating engagement between families and companies
- Family conferences: Annual gatherings for families to connect and learn
- Family registry: Comprehensive patient registry with genetic and clinical data
- Support network: Connecting families for peer support
- Resource library: Educational materials about SLC6A1
- Rare disease advocacy: Working with coalitions to advocate for rare disease research
- Awareness programs: Raising awareness of SLC6A1-related epilepsy
- Regulatory engagement: Participation in FDA rare disease initiatives
- Takeda Pharmaceuticals: SLC6A1 gene therapy program
- Stoke Therapeutics: ASO platform for haploinsufficiency
- Various pharmaceutical companies developing SLC6A1 therapies
- University of Michigan (Dr. Lowther)
- Various epilepsy research centers
Annual conference bringing together families, researchers, clinicians, and industry representatives.
Annual awareness event to educate about SLC6A1-related epilepsy.
- Patient registry: SLC6A1 Patient Registry
- Family resources: Educational and care materials
- Clinical information: Information about available treatments and trials
As a 501(c)(3) non-profit, the foundation relies on:
- Individual donations and family fundraising
- Corporate sponsorships from pharmaceutical partners
- Foundation grants from rare disease organizations
- Annual fundraising events
- SLC6A1 Connect Official Website
- SLC6A1 Patient Registry
- SLC6A1 Research