For Industry Partners
Collaboration in SLC6A1 therapeutic development
SLC6A1 Europe welcomes dialogue with pharmaceutical, biotechnology and other organisations developing or evaluating therapies, biomarkers, natural-history studies or clinical programmes relevant to SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD).
As a European alliance of national patient organisations, we can contribute patient and caregiver perspectives, provide orientation within the European SLC6A1 landscape and, where appropriate, facilitate introductions to relevant organisations and specialists.
Any collaboration is considered on a case-by-case basis and must respect the independence of our member organisations, applicable ethical and data-protection requirements, and the interests of people living with SLC6A1-NDD.
SLC6A1-NDD in brief
SLC6A1-NDD is caused by pathogenic variants in SLC6A1, which encodes GABA transporter 1 (GAT-1), a protein involved in the reuptake of GABA from the synaptic space.
The clinical presentation is variable and may include developmental delay or intellectual disability, epilepsy, significant speech and language impairment, movement or coordination difficulties, sleep disturbance and behavioural or psychiatric features.
Published estimates have placed the incidence of SLC6A1-NDD at approximately 1 in 38,000 births. However, this remains an estimate, and case ascertainment continues to evolve as access to genetic testing and recognition of the condition improve.
There is currently no approved disease-modifying treatment for SLC6A1-NDD. Therapeutic research includes gene-based approaches, strategies intended to increase or restore GAT-1 function, drug repurposing and other pharmacological approaches.
Further clinical information is available in GeneReviews.
How SLC6A1 Europe may contribute
Depending on the nature and stage of the programme, SLC6A1 Europe and its national member organisations may be able to:
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contribute patient and caregiver perspectives to research priorities and development plans;
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provide input on study design, outcomes that matter to families and participant-facing materials;
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facilitate introductions to relevant patient organisations, academic groups or clinical contacts;
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help identify existing registries, natural-history initiatives and research resources;
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consider sharing appropriately approved research or study opportunities through national member organisations;
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discuss letters of support or participation in European research consortia.
The involvement of individual member organisations is always subject to their own assessment, capacity and decision-making processes.
Data, natural history and trial-readiness resources
SLC6A1 data and research resources are distributed across independent registries, clinical centres, repositories, biobanks and academic laboratories.
Several initiatives relevant to trial readiness are already in place internationally. In the United States, SLC6A1 Connect has reported longitudinal natural-history work, collaboration with specialist clinical centres, experience supporting an investigator-initiated small-molecule study and involvement in multiple patient data platforms.
Published work from collaborating teams includes a draft disease conceptual model intended to support natural-history research and the identification of meaningful clinical-trial outcomes. Quantitative EEG measures are also being investigated as potential biomarkers in SLC6A1-NDD.
Further information is available through the SLC6A1 Connect registry page, the US natural-history study and the registered investigator-initiated phenylbutyrate study.
Access conditions are determined by the organisation responsible for each resource and may require ethics approval, appropriate participant consent, data-access review and formal agreements. SLC6A1 Europe does not own these datasets or samples and cannot guarantee access.
Depending on the request, we may be able to help identify an appropriate resource or point of contact.
Detailed information on registries and datasets, biospecimens, experimental models, human cell resources, variant and functional data, and selected research groups is available on our For Researchers page.
Patient and community engagement
Early and meaningful engagement with patients and families can help ensure that therapeutic-development programmes address relevant needs and consider the practical realities of living with SLC6A1-NDD.
Depending on the project, national patient organisations may contribute to:
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identifying patient and caregiver priorities;
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reviewing the clarity and accessibility of participant information;
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discussing the feasibility and burden of proposed study procedures;
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providing perspectives on outcomes that are meaningful to patients and families;
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raising awareness of appropriately approved studies;
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supporting communication with families before, during and after a study.
Contact with SLC6A1 Europe does not provide direct access to patients or imply endorsement of a company, product, study or therapeutic approach.
Principles for collaboration
SLC6A1 Europe supports responsible, transparent and evidence-based engagement with industry.
Any collaboration should protect the independence of patient organisations, avoid promotional use of families or patient experiences, and comply with applicable requirements concerning ethics, informed consent, privacy and data protection.
The scope of any support, acknowledgement, letter or consortium participation must be agreed in advance. Information about investigational therapies should clearly distinguish established evidence from preliminary or unpublished findings.
References to companies, studies or investigational therapies on this website are provided for information and do not constitute endorsement by SLC6A1 Europe or its member organisations.
Contact
For enquiries or to discuss a possible collaboration, please contact us at advocates@slc6a1europe.org.