Full Name (First Name, Last Name)
* Purpose: Identifies the contact person responsible for a patient, which is important for communication and managing permissions related to patient data. It also ensures the authenticity of the information received.
Email Address
* Purpose: Used as a primary means of communication and verification. Collecting email allows passwordless login, communication about updates, and invitations for surveys or engagement in registry activities. It’s also required for GDPR-compliant consent management and verification processes.
Mobile Number
* Purpose: Supports two-factor authentication (2FA) and alternative communication channels if email verification fails. It’s also helpful for urgent updates or reminders, increasing engagement for critical survey participation.
Country and State
* Purpose: Enables geographic segmentation of the data, which is helpful for understanding the prevalence of Rett Syndrome by region. It also supports regulatory compliance and ensures regional adjustments for engagement.
Are you a member of a local Rett Syndrome Association
* Purpose: Assesses the reach of the patient registry by identifying if contacts are already connected to existing associations. This helps determine whether the registry is capturing "known" patients or reaching a broader community, potentially identifying those outside of established networks.
Relationship to Patient (e.g., mother, father, legal guardian)
* Purpose: Defines the legal or familial connection to the patient, establishing the basis of authority for providing patient information. It also enables personalized communication and ensures only verified individuals can update or access sensitive patient details.
Full Name (First Name, Last Name)
* Purpose: Essential for uniquely identifying the patient alongside other fields (e.g., birth date). Names enable personalized registry records and are useful in maintaining continuity if the family decides to update or validate information over time.
Date of Birth
* Purpose: Used to calculate the patient’s age, which is essential for analyzing age-related information and identifying specific age groups. It’s also a key identifier to avoid duplicates and establish demographic insights.
Gender
* Purpose: Captures demographic data relevant to Rett Syndrome, which predominantly affects females but may present differently across genders. Gender helps in analyzing prevalence and is essential for demographic reporting and research on gender-specific manifestations.
Mecp2 Mutation Details (Gene Mutation and Protein Mutation)
* Purpose: These genetic details are crucial for understanding the specific mutation types within the registry. This information supports research on genotype-phenotype correlations, which may guide more personalized interventions or further research into Rett Syndrome’s progression.
Basic Phenotypic Information (e.g., mild, moderate, severe)
* Purpose: Phenotypic classification will be used to track the severity and progression of symptoms. This information can guide researchers to specific patient subgroups and improve targeted survey questions in longitudinal studies.
Diagnosis Confirmation (Verified by Rett Syndrome Europe)
* Purpose: Ensures data quality and reliability by confirming that the patient’s diagnosis is verified.