Digital Health Platform Customized for Patients With Gaucher Disease

NCT04997772 | Completed

• 1 other identifier: 0380-20-SZMC
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

Brief Summary

The entry of digitization into the world in recent years is helping the health care system to operate more efficiently than in the past and has increased the participation of patients and their families in managing their health care. In a rare disease, such as Gaucher disease, patient involvement through digital technology is of great importance. Gaucher patients come for an inspection at the Gaucher unit once every six months. However, medical events, related and unrelated to Gaucher, may occur between these visits, some of which may be urgent. A digital Gaucher platform will allow for the updating of medical events occurring in the patient between these visits and will allow specialists to give up-to-date medical advice to the patient and the local doctor when needed. The Gaucha Digital Platform will provide digital tools (and applications) for self-management, monitoring and regular contact with the Gaucher Unit. The system will have an alert system that will allow accessible communication between the patient and the Gaucher unit. Moreover, patients with Gaucher disease need a lifelong commitment to their care; Enzyme replacement therapy (ERT) and substrate inhibitor therapy (SRT). When patients are monitored only once or twice a year, monitoring adherence to treatment may be a problem. Adherence to the treatment regimen is essential for achieving normalization. The system will have a system of reminders for treatment and a system for monitoring the receipt of treatment. The digital system will include quality of life questionnaires and pain questionnaires that will help to more comprehensively understand the patient's condition. Finally, a Gaucher-adapted digital platform will ensure the collection of all relevant clinical data that is important for the treatment of a rare and multi-systemic disease such as Gaucher disease. A complete database will make it possible to create an anonymous database that will be used to find predictors of response to treatment, complications and commodities associated with Gaucher disease.

Conditions

Gaucher Disease; Patient Reported Outcome

Keywords

Gaucher Disease; Digital Health; Patient Reported Outcome

Outcome Measures

Primary Outcomes (1)

• Rate of satisfaction from Gaucher treatment at baseline compared to the end of study

  GD-PROMs

  12 months

Secondary Outcomes (2)

• Adherence to treatment based on participant reports in the App

  12 months

• Achievement of treatment goals based on Gaucher consensus paper

  12 months

Study Arms (1)

1

Gaucher disease patients \> 18 years old.

Device: Digital Gaucher Platform

Interventions

Digital Gaucher Platform DEVICE

Digital platform specified for Gaucher patients.

1

Eligibility Criteria

• Age: 19 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Gaucher disease patients above the age of 18 years old.

You may qualify if:

• All adults (\>18 years, no age maximum) treated patients with GD will be eligible.
• Signed informed consent.

You may not qualify if:

• Patients without access to either computer or mobiles phone.
• For this pilot study patients whose communication skills in Hebrew is not good enough to complete the study questionnaires and PROMs \[the app platform will use a very simplified language, thus allowing patients with limited Hebrew to use the app\] \*for future use/study the platform will be translated to other languages, as needed.

Sponsors & Collaborators

• Shoshana Vilk: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

Shaare Zedek Medical Center

Jerusalem, 9103102, Israel

Location

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Prof. Shoshana Revel-Vilk

Study Record Dates

• First Submitted: July 28, 2021
• First Posted: August 10, 2021
• Study Start: February 1, 2022
• Primary Completion: February 28, 2024
• Study Completion: March 30, 2024
• Last Updated: April 17, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

IL (1)