Is the CADASIL Family Registry Ready for Research?

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CADASIL, or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is a rare genetic disorder caused by mutations in the NOTCH3 gene. It is a neurological degenerative disorder leading to cognitive impairment and eventually vascular dementia.

It is estimated to affect between 4-10 people per 100,000 worldwide, meeting the US definition of a rare disorder. CADASIL is an autosomal dominant genetic disorder, meaning that it is passed down by a parent to their offspring with a 50 percent chance of each child inheriting the mutation. There is currently no prevention or treatment.

Assessment of CADASIL Family Registry

The study presented at the NORD Summit reports over 350 participants in the CADASIL Family Registry worldwide, with the largest participation (77.1%) in the United States. The study assessed the type of data available, sample size, and the number of completed surveys with demographic, diagnostic, and clinical data available over time.

Researchers concluded that the registry can currently support cross-sectional retrospective analyses of US patients with a reported CADASIL diagnosis. They also reported that the registry can be used to support enrollment in CADASIL research studies or clinical trials by identifying the number of individuals who meet broad demographic or clinical criteria.

Increased Participation Needed

The study found that the registry data cannot yet be used to support longitudinal analyses or analyses of patient subgroups due to small sample size. Relatively low participation in the registry by individuals with CADASIL outside the US or individuals at hereditary risk of CADASIL is also problematic. Researchers concluded that with increased participation, these types of studies would be possible in the future. 

Sandra Talbird, Senior Director of Health Economics at RTI-HS and cureCADASIL Trustee, says, “Online registries with patient-reported data are a data source that is growing in use to support rare disease research. The information can be used for medical and economic studies, depending on the quality and completeness of the data.” RTI-HS has substantial experience in rare disease research, including economic modeling studies, patient and caregiver survey research,  as well as a recent decision tool for patients and families with rare pediatric diseases considering trial enrollment. 

For more information on the study results, contact Sandra Talbird at RTI Health Solutions. Families, clinicians, or researchers interested in the CADASIL Family Registry, contact Nancy Maurer, cureCADASIL President, at

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