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

Hadassah Medical Center

Status and phase: Completed; Phase 2

Conditions: Gaucher Disease Type 1

Treatments: Combination Product: Enzyme replacement therapy for Gaucher disease in combination with altus care application

Study type: Interventional

Funder types: Other

Identifiers

NCT06050967

0056-21-SZMC

Details and patient eligibility

About

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.

Full 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.

Enrollment: 5 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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5 participants in 1 patient group

individualized treatment plan with random dosage and time of administration

Experimental group

Description:

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.

Treatment:

Combination Product: Enzyme replacement therapy for Gaucher disease in combination with altus care application