The Cute Syndrome Foundation Global SCN8A Survey Series
The Cute Syndrome Foundation Global SCN8A Survey Series is an online registry for people with an SCN8A disorder. It is sponsored by The Cute Syndrome Foundation and hosted by the National Organization for Rare Disorders (NORD®) on their IAMRARE® platform. This registry will collect information from participants (or their authorized representatives) who are affected by SCN8A disorders.
The primary aim of The Cute Syndrome Foundation Global SCN8A Survey Series is to conduct a prospectively-planned and efficient study that will result in the most comprehensive understanding of the disease and its course and pace over time. Other objectives include the following:
- Provide a convenient online platform for participants (or caregivers) to self- report cases of SCN8A mutations.
- Develop a communications registry within The Cute Syndrome Foundation Global SCN8A Survey Series (e.g., to notify patients of research studies and clinical trials).
- Characterize and describe the SCN8A population as a whole, enhancing the understanding of disease prevalence and phenotype as well as the rate of progression of disease characteristics.
- Assist the SCN8A community with the development of recommendations and standards of care.
- Be a case-finding resource to be used for researchers who seek to study the pathophysiology of SCN8A, retrospectively collate intervention outcomes, and design prospective trials of novel treatments.
Participants with SCN8A will be followed throughout the course of their lives with either the participant or authorized respondents contributing data at varying intervals throughout the course of the study. Data will be collected at the start of the study (baseline), and in surveys on limited topics regularly and/or to be updated by the participant as needed.