“We have continued to grow the Registry and it now contains records for 437 families worldwide. More than 140 families have supplied the full complement of requested records. We believe this makes the XGS Registry one of the largest of any comparable resource!
In this period, we continued our collaboration with the Houston-located company, Geneial. This start-up has undertaken the development of Registries as their central focus and this collaboration has enabled their earliest efforts to be tailored to the specifications that are best suited for the XGS community. The collaboration is proceeding steadily and we anticipate an early release of their software to test its utility for XGS community members.
As part of Geneial’s ‘Phase One’ activities, the XGS Registry data were successfully migrated to the Geneial platform, Bridge, which supports data management, access control, and basic analysis. Within Bridge, a dashboard was established including a table browser supporting search and filtering of registry entries based on any registry field, genetic support data management, access control, and basic analysis. Charts of registry growth, participant location by country, and demographics (sex at birth, ethnicity, and age) are available at the dashboard. An AHDC1 protein map with case variant locations in conjugation with protein functional domains is also available at the dashboard.
Currently, the charts of registry growth and participant location by country are available to the public without account log-in.
Demographic analysis data will be added on this publicly accessible dashboard shortly.”
“We are now working with Geneial in their ‘Phase Two’ program, in the development of the participant-facing portal, Advocate. The final goal is to implement Advocate to support patient onboarding, consent, and survey administration. The Advocate App is currently available to download for both iOS and Android system. In the current Phase Two pilot stage, the Advocate app is being tested internally for two key functions: (i) participant onboarding and (ii) for surveys of participant/families for additional data accrual.
For the latter, we are using a deployment of data regarding head banging activity as a model. It is well known among XGS-individual’s families that XGS-individuals have a high prevalence of head banging behavior that can have devastating consequences. Detailed head banging information was not collected in original XGS clinical surveys and therefore we tasked Geneial to develop an initial survey within Advocate to collect data related to the onset of head bangning, frequency, medication, and other self-injury behaviors. This will test the functionality of Advocate, as well as lead to a better understanding of the head banging behavior. This may help to identify contributing factors to the behavior and to discovery of ways to provide early and sustained interventions with goals of minimizing suffering and maximizing the quality of life.
Additionally, within this second half of Year 2, we have reinitiated tissue culture efforts. With the diminution of the impact of COVID, we recovered funds from BCM to renovate our tissue culture suite. This upgraded facility will be utilized in the coming period.
The remaining notable progress in this period included the preparation of a manuscript presenting two informative XGS cases in collaboration with two separate groups of clinicians from Canada. The manuscript is in final revision and will be submitted soon.