Skip to main content
OpenTrials
Completed

NCT Number: NCT06050967

A Second-generation AI 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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Gaucher Disease Type 1 Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gaucher Disease Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Hebrew university

Jerusalem, 96955, Israel

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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

Combination Product

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.

Primary outcomes

  1. Platelet

    Time frame: 6 month

    number of platelets per L. normal range 150,000 to 450,000. In Gaucher disease lower platelets means higher disease activity

  2. Hemoglobin

    Time frame: 6 month

    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

  3. Lyso GB1

    Time frame: 6 month

    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.

  4. SF-36

    Time frame: 6 month

    score of 0-100. 0 means worse and 100 means best.

Sponsors and collaborators

Lead sponsor

Hadassah Medical Organization

Other

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2023
Study completion
2023
First posted
Sep 22, 2023
Registry last updated
Sep 22, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.