Frequently Asked Questions

The Cute Syndrome Foundation Global SCN8A Survey Series

Frequently Asked Questions

Thank you for your interest in The Cute Syndrome Foundation Global SCN8A Survey Series. Please see below some frequently asked questions. If you have additional questions that are not listed, please contact us!

Who can join the study?

This study is open to anyone who has a SCN8A diagnosis.


Is there a cost to participate?

There is no cost to the patient to join this study. The Cute Syndrome  Foundation absorbs the cost of the registry for its members.


What is a Patient Registry?

A patient registry is a collection of standardized information about a group of  patients who share a condition and is used for a variety of purposes such as  conducting natural history studies and supporting disease specific clinical trial recruitment.


What is a Natural History Study?

A natural history study is a study designed to track the course of a disease over time and includes people who have a specific medical condition or disease and those who are at risk of developing such. This method of research explores the disease in a comprehensive way and identifies demographic, genetic, environmental, and other variables that correlate with the disease  and its outcomes. Natural history studies have many potential uses such as patient care best practice developments and clinical trial recruitment.


What is a Research Study Sponsor?

An individual, company, institution, or organization that takes responsibility  for choosing appropriately trained and experienced researchers as well as the initiation, management, and/or financing of a clinical trial. The study sponsor ensures that the study is conducted in a reputable manner and upholds regulations as they apply to the study.


What is an Institutional Review Board (IRB)?

Any board, committee, or other group formally designated by an institution or investigator to review, approve the initiation of, and to conduct periodic review of research involving human subjects. The primary purpose of such  review is to assure the protection of the rights and welfare of the human  subjects. Also known as Ethics Committee (EC).


What types of data will be collected in The Cute Syndrome Foundation Global SCN8A Survey Series?

The data collected is uniform and includes but is not limited to:

  • Socio-demographics
  • Medical and diagnostics
  • Treatment and disease progression
  • Management of care
  • Quality of life

Who is a study participant?

A study participant is the individual who takes part in a research study and whose information is collected for that research. Study participants may

consent to enter and share their own personal data.


Who is a reporter/respondent?

A reporter/respondent is an individual who completes the surveys on behalf of the patient/study participant, when they are unable to do so on their own behalf.


How is the data collected?

Data is collected through a secure web-based system developed by the National Organization for Rare Disorders (NORD), an independent non-profit  committed to the identification, treatment, and cure of all 7,000 rare diseases. Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.