Maternally-Inherited SPTBN1 Mutation

Purpose of the Data Access Committee (DAC) The DAC is responsible for reviewing requests to access controlled data deposited in the EGA. The DAC ensures that data are used in accordance with the terms of participant consent, applicable ethical approvals, and relevant legal and institutional requirements. Principles Participant protection – Access decisions are guided by the duty to protect the privacy, dignity, and rights of study participants. Scientific value – Requests must demonstrate clear, scientifically valid research objectives aligned with the scope of the original study. Compliance – Applicants must comply with local and international data protection regulations, including GDPR, as well as the terms set out by the data custodians. Transparency – All access decisions will be documented and made available to the depositing investigators upon request. Access Procedure Application: Researchers must submit a request through the EGA, including a brief project description, institutional affiliation, and confirmation of local ethics approval (where applicable). Review: The DAC will review requests to ensure that the proposed use is consistent with participant consent, study objectives, and ethical approvals. Decision: The DAC may approve, request modifications, or reject an application. Conditions: Access will be granted under a Data Access Agreement (DAA), requiring that: Data will not be redistributed or shared with unauthorized parties. Data will be used solely for the approved research project. Results will be reported in aggregate to prevent re-identification. Proper acknowledgment of the data source will be included in publications. Data Security and Monitoring Approved researchers must store data securely, using institutional or equivalent protected environments. Periodic audits or confirmations of compliance may be requested by the DAC. Duration of Access Access is normally granted for the duration of the approved project, with extensions possible upon justified request and DAC approval. Contact