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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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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

Conditions
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Gaucher Disease Type 1

Intervention / Treatment
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* Combination Product: Enzyme replacement therapy for Gaucher disease in combination with altus care application


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: individualized treatment plan with random dosage and time of administration<br>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<br>* 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.<br>|

What is the study measuring?
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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 |