A Second-generation AI Based Therapeutic Regimen in Patients With Gaucher Disease Treated With Enzyme Replacement Therapy.

A Feasibility Open-labeled Clinical Trial Using a Second-generation Artificial Intelligence-based Therapeutic Regimen in Patients With Gaucher Disease Treated With Enzyme Replacement Therapy

An open-labeled, prospective, single-center proof-of-concept study. Patients with Gaucher Disease aged 18-75 who received intravenous Enzyme Replacement Therapy once every two weeks were enrolled. The study utilized the Altus Care™ cellular phone-based application, which integrated an algorithm-based approach to provide random dosing regimens within a pre-defined range determined by the physician. The app allowed personalized therapeutic regimens with variations in dosages and administration times.

Study Overview

• Status: Completed
• Conditions: Gaucher Disease Type 1
• Intervention / Treatment: Combination product: Enzyme replacement therapy for Gaucher disease in combination with altus care application

Detailed Description

Patients diagnosed with GD and intravenously treated at home with a regular dose of Enzyme Replacement Therapy once every two weeks for 6 months (30- 60 U/kg per mouth) were included in the study.

We installed Altus Care™- this is a cellular phone-based application that allows easy digitization of treatment plans or research protocols and remote implementation. In coordination with the patient's treating physician and the home treating nurse, an individualized treatment plan was prepared for each patient within a pre-defined range of minimal and maximal once in two weeks ERT dosages and timing frames for its administration. Per protocol, the patient's monthly dose was not changed, but each dose and the timing of administration was changed randomly using the app.

During the follow-up period, the research coordinator made a regular weekly checkup by phone, questioning the patient's clinical well-being and adherence to the treatment plan. A physical examination, CBC, and Lyso-GB1 assessed response to therapy were done approximately every two months (twice during the study and once again at the end of the follow-up). The patients filled out SF-36 questionnaires at the beginning and the end of the follow-up.

• Study Type: Interventional
• Enrollment (Actual): 5
• Phase: Phase 2

Contacts and Locations

Study Locations

• Israel
  • Jerusalem, Israel, 96955
    • Hebrew University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Adult >18 years old
• Non-pregnant
• Diagnosed with Gaucher disease
• Treated with ERT for a minimum of 3 years
• An unchanged dose in the past 6/12 months

Exclusion Criteria:

• Pregnant
• Patients with evidence of severe infectious, malignant, autoimmune, or other disabling systemic diseases
• Patients unable to provide written informed consent
• Patients that do not possess a smartphone
• Patients who cant adhere to the visit schedule and protocol.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: individualized treatment plan with random dosage and time of administration; Baseline clinical and laboratory parameters acquired at the screening included: a physical examination, complete blood count (CBC), Lyso-GB1 , and a 36-item short-form survey (SF-36) for quality-of-life examination. Once providing informed consent, the Altus Care™ application was installed on the patient's cellular phone. In coordination with the patient's treating physician and the home treating nurse5 , an individualized treatment plan was prepared for each patient within a pre-defined range of minimal and maximal once in two weeks ERT dosages and timing frames for its administration. Per protocol, the patient's monthly dose wasn't changed, but each dose and the timing of administration was changed randomly using the app.

Combination product: Enzyme replacement therapy for Gaucher disease in combination with altus care application; In coordination with the patient's treating physician and the home treating nurse, an individualized treatment plan was prepared for each patient within a pre-defined range of minimal and maximal once in two weeks enzyme replacement therapy dosages and timing frames for its administration. Per protocol, the patient's monthly dose was not changed, but each dose and the timing of administration was changed randomly using the app.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Platelet	number of platelets per L. normal range 150,000 to 450,000. In Gaucher disease lower platelets means higher disease activity	6 month
Hemoglobin	Hemoglobin concentration in gram/dl. normal range 13.8 to 17.2 for males and 12.1 to 15.1 for females. The lower the hemoglobin the higher Gaucher disease activity	6 month
Lyso GB1	Lyso GB1 level in ng/ml. For healthy individuals the levels should be trace less than 4.9ng/ml. In patients with Gaucher disease the higher the level the higher the disease activity.	6 month
SF-36	score of 0-100. 0 means worse and 100 means best.	6 month

Collaborators and Investigators

• Sponsor: Hadassah Medical Organization
• Investigators: Principal Investigator: Noa Hurvitz, MD, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2022
• Primary Completion (Actual): March 1, 2023
• Study Completion (Actual): March 1, 2023

Study Registration Dates

• First Submitted: September 1, 2023
• First Submitted That Met QC Criteria: September 18, 2023
• First Posted (Actual): September 22, 2023

Study Record Updates

• Last Update Posted (Actual): September 22, 2023
• Last Update Submitted That Met QC Criteria: September 18, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: 0056-21-SZMC

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No