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 (HomERT)

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.

Study Overview

• Status: Completed
• Conditions: Pompe Disease; Mucopolysaccharidosis Type I (MPS I)

Detailed Description

Prospective observation duration for each patient: at least 12 months (from enrollment)

• Study Type: Observational
• Enrollment (Actual): 57

Contacts and Locations

Study Locations

• Italy
  • Italy, Italy
    • investigational Site Italy

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

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).

Description

Inclusion Criteria:

• 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).

Exclusion Criteria:

• 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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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 the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	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.	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.	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.	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.	For at least 12 months starting from enrollment (day 0)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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).	For at least 12 months starting from enrollment (day 0)

Collaborators and Investigators

• Sponsor: Sanofi
• Investigators: Study Director: Clinical Sciences & Operations, Sanofi

Study record dates

Study Major Dates

• Study Start (Actual): October 14, 2021
• Primary Completion (Actual): January 31, 2024
• Study Completion (Actual): January 31, 2024

Study Registration Dates

• First Submitted: September 16, 2021
• First Submitted That Met QC Criteria: October 8, 2021
• First Posted (Actual): October 11, 2021

Study Record Updates

• Last Update Posted (Estimated): February 14, 2024
• Last Update Submitted That Met QC Criteria: February 13, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Mucopolysaccharidoses; Mucopolysaccharidosis I; Glycogen Storage Disease Type II
• Other Study ID Numbers: OBS17128; U1111-1266-7312 (Registry Identifier: ICTRP)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: 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