About the Study
The Cute Syndrome Foundation Global SCN8A Survey Series is an online registry for patients with SCN8A. It will be hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them and as such is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. The registry will collect information from participants, (or their authorized respondents, heretofore referred to collectively as “participants”), who are affected by SCN8A.
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.
Some frequently asked questions
1. Who can join the study?
This study is open to anyone who has a SCN8A diagnosis.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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).
7. 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
• Medical and diagnostics
• Treatment and disease progression
• Management of care
• Quality of life
8. 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.
9. 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.
10. 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.
Review a complete list of FAQs here.