Overview

The primary purpose of this mortality study is to identify common causes of death among individuals with neurogenetic disorders. Findings from this research aim to improve clinical understanding, care strategies, and long-term outcomes for patients.

Who Can Participate

Participation is open to guardians, caregivers, or close family members of individuals who:

• Had a diagnosed neurogenetic disorder

• Are now deceased

What Participation Involves

Participants will be asked to:

• Complete a brief survey about the deceased individual

• • Provide confirmation of the genetic diagnosis

  • Share a copy of the death certificate

  • Provide relevant medical records (if available)

• Participate in an interview about the individual’s medical history and circumstances

Recruitment of Disorders

• All rare neurogenetic disorders are eligible

• Membership in COMBINEDBrain is not required to participate

Funding

This study is supported through:

• Voluntary contributions of $1,000 per Patient Advocacy Group (PAG)

• Contracts for PAGS for disorder-specific case studies

• COMBINEDBrain operating funds, with additional funding sources pending

Study Status

Upcoming — Recruitment will begin in 2026

Contact Us

For questions or to express interest in participating in the working group, email: Mortalitystudy@combinedbrain.org