Combined Brain
Mortality Study
More Information coming soon
Why This Research Matters
For families affected by Lesch-Nyhan syndrome, understanding the challenges that impact health and longevity is a critical part of improving care and advancing research. While families and clinicians have shared valuable experiences over the years, there is still limited data available about the causes of death and serious health complications associated with Lesch-Nyhan syndrome.
At Love Never Sinks, we believe families are essential partners in research. Through our commitment to research readiness and family-driven research, we work to ensure that the experiences of individuals living with Lesch-Nyhan syndrome and their caregivers help guide scientific discovery and future treatment development.
The Mortality Study is a collaborative research effort designed to better understand common causes of death among individuals with rare neurogenetic disorders, including Lesch-Nyhan syndrome. By collecting information from families, reviewing medical histories, and identifying patterns across diagnoses, researchers hope to improve clinical understanding and develop strategies that may lead to better outcomes.
The knowledge gained from this study may help:
Identify common medical complications and potential risk factors.
Improve monitoring and clinical care guidelines.
Support earlier recognition and intervention for serious health concerns.
Guide future research priorities and treatment development.
Provide valuable information for families and healthcare providers.
Who Can Participate
Participation is open to parents, guardians, caregivers, and close family members of individuals who:
Had a confirmed diagnosis of Lesch-Nyhan syndrome or another rare neurogenetic disorder.
Are now deceased.
What Participation Involves
Participants may be asked to:
Complete a brief survey about their loved one.
Provide confirmation of the genetic diagnosis.
Share a copy of the death certificate.
Provide relevant medical records, if available.
Participate in an interview about their loved one’s medical history and circumstances surrounding their passing.re.
Study Information
Study Status: Recruitment is expected to begin in 2026.
Eligibility: All rare neurogenetic disorders are eligible. Membership in COMBINEDBrain is not required.
Funding: This study is supported through contributions from Patient Advocacy Groups (PAGs), disorder-specific research contracts, and COMBINEDBrain operating funds, with additional funding opportunities under development.
For questions or to learn more about participation, contact:
MortalityStudy@combinedbrain.org
Why Family Participation Matters
Every family's experience provides valuable insight. By sharing information, families help build a stronger understanding of Lesch-Nyhan syndrome and other rare neurogenetic disorders. This information can help researchers identify trends, address unanswered questions, and create a foundation for improved care and future therapies.
Together, families and researchers can transform individual experiences into knowledge that benefits the entire Lesch-Nyhan community.
