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.
Mission
To improve the quality of life for individuals with SLC6A1-related epilepsy and their families through research funding, family support, education, and advocacy.
History
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SLC6A1 Connect
Overview
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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.
Mission
To improve the quality of life for individuals with SLC6A1-related epilepsy and their families through research funding, family support, education, and advocacy.
History
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
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
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
Mechanism
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.
Key Activities
Research Funding
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
Clinical Trial Support
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 Support
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
Advocacy
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
Partnerships
Industry Partners
Takeda Pharmaceuticals: SLC6A1 gene therapy program
Stoke Therapeutics: ASO platform for haploinsufficiency
Various pharmaceutical companies developing SLC6A1 therapies
Academic Partners
University of Michigan (Dr. Lowther)
Various epilepsy research centers
Annual Events
Family Conference
Annual conference bringing together families, researchers, clinicians, and industry representatives.
SLC6A1 Awareness Day
Annual awareness event to educate about SLC6A1-related epilepsy.