cureCADASIL, in collaboration with researchers at RTI Health Solutions (RTI-HS) and with Invitae, presented results of their study of the CADASIL Family Registry at the 35th Annual National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit on Oct 14 and 15 in Washington, D.C. The study presented at the NORD Summit, “Is the CADASIL Family Registry Research Ready?”, used patient-reported, de-identified data from the online, global registry, to assess the feasibility of use of the data by external researchers interested in CADASIL.
CADASIL, or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is a rare genetic disorder caused by mutation(s) in the NOTCH3 gene causing degeneration of vascular smooth muscle cells. CADASIL is a neurological degenerative disorder leading to cognitive impairment and eventually vascular dementia. It is estimated to affect between 4 and 10 people per 100,000 worldwide, meeting the US definition as 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 CADASIL-causing mutation. There is currently no prevention or treatment for CADASIL.
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 CADASIL Family 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. However, 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; the researchers concluded that with increased participation, these types of studies would be possible in the future.
The CADASIL Family Registry is one of over 80 registries hosted by Invitae. Invitae acquired PatientCrossroads in 2017, including their CONNECT platform, a platform for patient-owned and patient-reported data registries.
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 clinical trial enrollment.
If you or someone you know would be interested in joining the CADASIL Family Registry, please visit CADASIL Family Registry.
During the 2018 NORD Rare Summit, over 800 leaders from FDA, NIH, industry, patient groups, payers and research institutions came together and explored the new and innovative ways in which patients and caregivers are helping drive progress for the rare disease community. Trustees of cureCADASIL were among the attendees learning and connecting to bring CADASIL research to the next level. Our brochures were on display for all to see. Attending the pre-Summit Members-Only meeting and scheduled presentations increased our passion and drive to serve cureCADASIL.
The presentations by rare disease leaders and government agencies provided insight to exciting possibilities for patients and patient organizations to make an impact on rare disease, such as CADASIL. As a member organization of NORD, Trustees of cureCADASIL attended the pre-Summit Members-Only meeting, learning and connecting to bring CADASIL research to the next level.
(Here cureCADASIL brochures are on display for all to see!)
cureCADASIL.org – November 2018