Pompe DiseaseHomERTNCT05073783
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
An observational study of Pompe Disease and Mucopolysaccharidosis Type I (MPS I), run by Sanofi at 1 site in Italy.
Trial summary
Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting. Secondary objectives: To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pompe Disease, Mucopolysaccharidosis Type I (MPS I)
- How many people
- 57 participants
- Where
- 1 siteItaly
- Study dates
- 14 Oct 2021to 31 Jan 2024
- Phase
- Observational
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Pompe disease patients with confirmed GAA enzyme deficiency treated with Myozyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort A) or MPS I patients with confirmed deficiency of the lysosomal enzyme, alpha-L-iduronidase treated with Aldurazyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort B).
Who may be able to join
- Signed, informed consent obtained prior to being enrolled into the study and prior to starting any data collection. Consent of a legally authorized guardian is required for legally minor patients as defined by local regulation. If the patient is legally minor, signed written consent shall be obtained from parent(s)/legal guardian and assent obtained from the patient, if applicable.
- Pompe disease patients with confirmed acid alpha-glucosidase (GAA) enzyme deficiency treated with Myozyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort A) or
- MPS I patients with confirmed deficiency of the lysosomal enzyme, alpha-L-iduronidase treated with Aldurazyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort B).
Who cannot join
- Participation in another clinical trial with any investigational agent within the 12 weeks preceding enrolment.
- Any condition (e.g. medical concern) which, in the opinion of the Investigator, would make the participant unsuitable for the study.
- The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Multi-Centre, Non-Interventional, Double Cohort Study to Assess the Safety of Myozyme® and of Aldurazyme® in Real-World Home Infusion Setting
Primary objective:
To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting.
Secondary objectives:
- To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting.
- To evaluate the infusion compliance in both cohorts of patients treated in a home-care infusion setting.
Read the detailed description
Prospective observation duration for each patient: at least 12 months (from enrollment)
- Medical subject headings
- Glycogen Storage Disease Type II, Mucopolysaccharidosis I
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cohort A | Pompe disease patients receiving Myozyme® (alglucosidase alfa) in a home-care setting. | |
| Cohort B | MPS I patients receiving Aldurazyme® (laronidase) in a home-care setting. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with treatment-emergent adverse events (TEAEs)
Treatment emergent adverse events (TEAEs) are defined as any event which are not present prior to the initiation of the Enzyme replacement therapy (ERT) administration in homecare setting or any event already present that worsens in either intensity or frequency following initiation of ERT administration in home-care setting.
Measured: For at least 12 months starting from enrollment (day 0)
Number of participants with treatment-emergent adverse events (TEAEs) for each class of severity
TEAEs are defined as any event which are not present prior to the initiation of the ERT administration in homecare setting or any event already present that worsens in either intensity or frequency following initiation of ERT administration in home-care setting. An adverse event grading scale of mild, moderate and severe is used for grading of adverse event severity.
Measured: For at least 12 months starting from enrollment (day 0)
Number of participants with serious treatment-emergent adverse events (TEAEs)
A serious adverse event (SAE) is any untoward medical occurrence that at any dose: 1) results in death or 2) is life-threatening or 3) requires inpatient hospitalization or prolongation of existing hospitalization or 4) results in persistent or significant disability/incapacity or 5) is a congenital anomaly/birth defect or 6) is a medically important event.
Measured: For at least 12 months starting from enrollment (day 0)
Number of participants with treatment-emergent adverse events (TEAEs) related to alglucosidase or laronidase
TEAEs are defined as any event which are not present prior to the initiation of the ERT administration in homecare setting or any event already present that worsens in either intensity or frequency following initiation of ERT administration in home-care setting. A TEAE is defined as treatment-related if it has a reasonable possibility that the event is related to alglucosidase or laronidase.
Measured: For at least 12 months starting from enrollment (day 0)
Number of participants with infusion associated reactions (IARs)
IARs are defined as AEs that occur during either the infusion or the observation period following the infusion which are deemed to be related or possibly related to Myozyme® and Aldurazyme®. At the discretion of the Investigator, AEs occurring after completion of the post-infusion observation period that are assessed as related may also be considered IARs.
Measured: For at least 12 months starting from enrollment (day 0)
Number of participants with concomitant medications for each Anatomical Therapeutic Chemical (ATC) classification systems
Participants will be asked about their use of concomitant medication at enrollment.
Measured: At enrollment (day 0)
Number of participants with change in the use of concomitant medications in case of non-tolerated infusion
Participants will be asked about their perception regarding any additional medications or treatments or any changes in regimen or dosages compared to their baseline (day 0) state. Any change in the therapy (increased therapy, decrease therapy, no change in therapy) during the study will be reported.
Measured: For at least 12 months starting from enrollment (day 0)
Secondary outcomes (2)
Patient satisfaction
Patient satisfaction data will be collected through a satisfaction questionnaire, including potential benefits in terms of stress, time and costs. The questionnaire aims to evaluate patient satisfaction about home infusion: 1) where do you prefer to receive ERT, home or hospital; 2) why (list of reasons); 3) how do you feel now; 4) if you are in home infusion, how do you rate your health than when you were treated in hospital.
Measured: For at least 12 months starting from enrollment (day 0)
Patient compliance
Patient compliance is assessed as number of missed infusions versus planned and/or return to hospital setting (with reasons).
Measured: For at least 12 months starting from enrollment (day 0)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Oct 2021
- Study start14 Oct 2021
- Primary completion31 Jan 2024
- Study completion31 Jan 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by SanofiThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 57 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanofi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05073783
- Sponsor's protocol ID
- OBS17128
- Other IDs
- U1111-1266-7312
- Acronym
- HomERT
- Status last verified
- Feb 2024
- First submitted
- 16 Sep 2021
- Last updated
- 14 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org
Publications
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Brighina F, Barone R, Cianflone A, Balzarini M, Parini R, Scarpa M. Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation. Orphanet J Rare Dis. 2025 Nov 21;20(1):639. doi: 10.1186/s13023-025-04108-1.
PubMed 41272769
Study at a glance
From the registry record, last updated by the sponsor on 14 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multi-Centre, Non-Interventional, Double Cohort Study to Assess the Safety of Myozyme® and of Aldurazyme® in Real-World Home Infusion Setting
- ClinicalTrials.gov ID
- NCT05073783
- Acronym / sponsor ID
- HomERT / OBS17128
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 57 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 14 Oct 2021 (actual)
- Primary completion
- 31 Jan 2024 (actual)
- Study completion
- 31 Jan 2024 (actual)
- First posted
- 11 Oct 2021 (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.
Primary objective:
To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting.
Secondary objectives:
- To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting.
- To evaluate the infusion compliance in both cohorts of patients treated in a home-care infusion setting.
Detailed description
Prospective observation duration for each patient: at least 12 months (from enrollment)
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort A | – | –Pompe disease patients receiving Myozyme® (alglucosidase alfa) in a home-care setting. |
| Cohort B | – | –MPS I patients receiving Aldurazyme® (laronidase) in a home-care setting. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pompe disease patients with confirmed GAA enzyme deficiency treated with Myozyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort A) or MPS I patients with confirmed deficiency of the lysosomal enzyme, alpha-L-iduronidase treated with Aldurazyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort B).
Key inclusion criteria (3 listed)
- Signed, informed consent obtained prior to being enrolled into the study and prior to starting any data collection. Consent of a legally authorized guardian is required for legally minor patients as defined by local regulation. If the patient is legally minor, signed written consent shall be obtained from parent(s)/legal guardian and assent obtained from the patient, if applicable.
- Pompe disease patients with confirmed acid alpha-glucosidase (GAA) enzyme deficiency treated with Myozyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort A) or
- MPS I patients with confirmed deficiency of the lysosomal enzyme, alpha-L-iduronidase treated with Aldurazyme® in home infusion setting according to authorized clinical practice and the approved risk management plan document (Cohort B).
Key exclusion criteria (3 listed)
- Participation in another clinical trial with any investigational agent within the 12 weeks preceding enrolment.
- Any condition (e.g. medical concern) which, in the opinion of the Investigator, would make the participant unsuitable for the study.
- The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of participants with treatment-emergent adverse events (TEAEs)
Time frame: For at least 12 months starting from enrollment (day 0)
Treatment emergent adverse events (TEAEs) are defined as any event which are not present prior to the initiation of the Enzyme replacement therapy (ERT) administration in homecare setting or any event already present that worsens in either intensity or frequency following initiation of ERT administration in home-care setting.
Number of participants with treatment-emergent adverse events (TEAEs) for each class of severity
Time frame: For at least 12 months starting from enrollment (day 0)
TEAEs are defined as any event which are not present prior to the initiation of the ERT administration in homecare setting or any event already present that worsens in either intensity or frequency following initiation of ERT administration in home-care setting. An adverse event grading scale of mild, moderate and severe is used for grading of adverse event severity.
Number of participants with serious treatment-emergent adverse events (TEAEs)
Time frame: For at least 12 months starting from enrollment (day 0)
A serious adverse event (SAE) is any untoward medical occurrence that at any dose: 1) results in death or 2) is life-threatening or 3) requires inpatient hospitalization or prolongation of existing hospitalization or 4) results in persistent or significant disability/incapacity or 5) is a congenital anomaly/birth defect or 6) is a medically important event.
Number of participants with treatment-emergent adverse events (TEAEs) related to alglucosidase or laronidase
Time frame: For at least 12 months starting from enrollment (day 0)
TEAEs are defined as any event which are not present prior to the initiation of the ERT administration in homecare setting or any event already present that worsens in either intensity or frequency following initiation of ERT administration in home-care setting. A TEAE is defined as treatment-related if it has a reasonable possibility that the event is related to alglucosidase or laronidase.
Number of participants with infusion associated reactions (IARs)
Time frame: For at least 12 months starting from enrollment (day 0)
IARs are defined as AEs that occur during either the infusion or the observation period following the infusion which are deemed to be related or possibly related to Myozyme® and Aldurazyme®. At the discretion of the Investigator, AEs occurring after completion of the post-infusion observation period that are assessed as related may also be considered IARs.
Number of participants with concomitant medications for each Anatomical Therapeutic Chemical (ATC) classification systems
Time frame: At enrollment (day 0)
Participants will be asked about their use of concomitant medication at enrollment.
Number of participants with change in the use of concomitant medications in case of non-tolerated infusion
Time frame: For at least 12 months starting from enrollment (day 0)
Participants will be asked about their perception regarding any additional medications or treatments or any changes in regimen or dosages compared to their baseline (day 0) state. Any change in the therapy (increased therapy, decrease therapy, no change in therapy) during the study will be reported.
2 secondary outcomes
Patient satisfaction
Time frame: For at least 12 months starting from enrollment (day 0)
Patient compliance
Time frame: For at least 12 months starting from enrollment (day 0)
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 14 Feb 2024.
- Derived from this study: PubMed 41272769Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Brighina F, Barone R, Cianflone A, Balzarini M, Parini R, Scarpa M. Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation. Orphanet J Rare Dis. 2025 Nov 21;20(1):639. doi: 10.1186/s13023-025-04108-1.
- Individual participant dataSharing planned: Yes. Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org
Related trials for Pompe Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
Not yet recruitingPhase 2
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
Pompe Disease
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.
Clinical Sciences & Operations study director
Sanofi
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease and Mucopolysaccharidosis Type I (MPS I), run by Sanofi at 1 site in Italy.
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 3 inclusion and 3 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 14 Feb 2024. 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 Italy. 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.
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?
Number of participants with treatment-emergent adverse events (TEAEs) (time frame: For at least 12 months starting from enrollment (day 0)). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05073783, which also lists 1 linked publication.
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 14 Feb 2024.