PHOENIX NEST BIOTECH

C-RARE- Recording Application for Real-world Evidence, C a play on words; Sanfilippo type C and see. C-RARE is a clinical recording application downloaded from the internet and programmed for the use in our observational studies (ALL-127, JLK-447 and JLK-448). C-RARE features three questionnaires and 12 daily living and social engagement activities to be performed by assented patients and videotaped by their caregiver. These ~5-minute videos and questionnaires are taken every 6-months for a total of five time points.  

 

The application includes activities that naturally fit into the child’s typical routine and reflect caregivers’ perspective (ref. 1, 2) of what is meaningful to the child and their family members. C-RARE also includes three observer reported questionnaires. C-RARE is designed to capture disease symptoms and their progression and help identify functional endpoints that can be measured during an interventional trial.

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C-RARE Funding Support:

NIH/NINDS 1R44NS137892-01: 07/01/24-07/01/27 Identification of Potential Biomarkers and Clinical Tools for use in Mucopolysaccharidoses IIIC Patients $2,994,701

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References:

1. Porter KA, O'Neill C, Drake E, Andrews SM, Delaney K, Parker S, Escolar ML, Montgomery S, Moon W, Worrall C, Peay HL. Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome. J Patient Rep Outcomes. 2022 Apr 25;6(1):40. doi: 10.1186/s41687-022-00447-w. PMID: 35467223; PMCID: PMC9038975.

2. Porter KA, O'Neill C, Drake E, Parker S, Escolar ML, Montgomery S, Moon W, Worrall C, Peay HL. Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment. Neurol Ther. 2021 Jun;10(1):197-212. doi: 10.1007/s40120-020-00226-z. Epub 2020 Dec 2. PMID: 33263924; PMCID: PMC8139994.

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