for Physicians
for Patients

Research Project

Project Title:

SENTENCE - Structured multidisciplinary data collection for cystinosis

Project Type:

 Registry

Disease group(s):

 Tubulopathies

Project Summary:

 Infantile nephropathic cystinosis is a very rare genetic lysosomal storage disease characterized by cystine accumulation in various organs. As an incurable multi-organ disease, it requires care by many different medical specialists throughout the patient’s life. The Cystinosis Outpatient Consultation (COC), established in 2012 for pediatric and adult patients, allows patients with cystinosis to consult with up to 13 different specialists over the course of one day at least once per year. Although associated with many benefits for patients with cystinosis, the interdisciplinary care in the COC still faces numerous challenges. One major challenge was the lack of a standardized documentation system to collect medical data from both children and adults with cystinosis. The transfer of data either between the departments involved in the COC or from specialists to local doctors proved to be time-consuming and error prone, with doctors often receiving multiple individual reports and unable to access a patient’s full medical history. Moreover, while a detailed prospective collection of structured data was not possible, this remains essential to follow disease progression over time and to allow, if necessary, the initiation of preventive measures or treatment adjustments. The possibility to collect standardized prospective data in a patient registry also provides a knowledge base for healthcare research, which is particularly important in the context of rare diseases such as cystinosis in order to improve prognosis and therapy.
Therefor the project SENTENCE was initiated in 2021 with the aim of developing a web-based tool for the structured and standardized documentation of medical and sociodemographic data during the COC that would also facilitate the sharing of data between the different specialists involved in patient care.
Participation in the registry requires the consent and signature of the patient and/or parents. The technical realization was realized based on a software solution by the company itc-ms.de.

Lead principal investigator(s):

 Katharina Hohenfellner, Rosenheim

Project Period:

 09/2022   -   09/2050

Sponsors:

 Non-profit foundation

Project web page:

 www.cystinose-stiftung.de
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