Gaucher Disease Type 1Phase 2NCT06050967
A Second-generation AI Based Therapeutic Regimen in Patients With Gaucher Disease Treated With Enzyme Replacement Therapy.
A Phase 2 study testing Enzyme replacement therapy for Gaucher disease in combination with altus care application in people with Gaucher Disease Type 1, run by Hadassah Medical Organization at 1 site in Israel.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Gaucher Disease Type 1
- What is being tested?
- Enzyme replacement therapy for Gaucher disease in combination with altus care application
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteIsrael
- Study dates
- 1 Apr 2022to 1 Mar 2023
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
Official 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
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.
Read the 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.
- Conditions
- Gaucher Disease Type 1
- Being tested
- Enzyme replacement therapy for Gaucher disease in combination with altus care application
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Enzyme replacement therapy for Gaucher disease in combination with altus care applicationCombination 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.
| Study group | Role | What they receive |
|---|---|---|
| individualized treatment plan with random dosage and time of administration | Experimental | 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. Receives: Combination Product: Enzyme replacement therapy for Gaucher disease in combination with altus care application |
What is being measured
The primary outcome is the main question the study is designed to answer.
Platelet
number of platelets per L. normal range 150,000 to 450,000. In Gaucher disease lower platelets means higher disease activity
Measured: 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
Measured: 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.
Measured: 6 month
SF-36
score of 0-100. 0 means worse and 100 means best.
Measured: 6 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Sep 2023
- Study start1 Apr 2022
- Primary completion1 Mar 2023
- Study completion1 Mar 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher Disease Type 1Studies of the same condition, open and under way.
- More trials run by Hadassah Medical OrganizationThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hadassah Medical Organization
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Noa Hurvitz, MD, Principal investigator, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06050967
- Sponsor's protocol ID
- 0056-21-SZMC
- Status last verified
- Aug 2023
- First submitted
- 1 Sep 2023
- Last updated
- 22 Sep 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT06050967
- Acronym / sponsor ID
- 0056-21-SZMC
- Conditions
- Gaucher Disease Type 1
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Hadassah Medical OrganizationUniversity, hospital or other
- Study start
- 1 Apr 2022 (actual)
- Primary completion
- 1 Mar 2023 (actual)
- Study completion
- 1 Mar 2023 (actual)
- First posted
- 22 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| individualized treatment plan with random dosage and time of administration | Experimental | Combination Product: Enzyme replacement therapy for Gaucher disease in combination with altus care applicationBaseline 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Enzyme replacement therapy for Gaucher disease in combination with altus care applicationIn 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. | Combination product | individualized treatment plan with random dosage and time of administration |
Primary outcome
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
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
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.
SF-36
Time frame: 6 month
score of 0-100. 0 means worse and 100 means best.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Noa Hurvitz, MD principal investigator
Faculty of Medicine, Hebrew University, Jerusalem, Israel.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Enzyme replacement therapy for Gaucher disease in combination with altus care application in people with Gaucher Disease Type 1, run by Hadassah Medical Organization at 1 site in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Platelet (time frame: 6 month). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Sep 2023; AzTrials last refreshed its copy on 2 Nov 2026.