Clinical trial NCT03687333: Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
Official title: A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE4
Conditions: Glycogen Storage Disease Type II
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2018-09-27
Enrollment: 10
Sex: ALL
Minimum age (years): 0
Maximum age (years): 12
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: Primary Objective:

To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset Pompe Disease.

Secondary Objectives:

* To observe the improvement of physical growth, motor and cognitive development of 52-week treatment with Alglucosidase Alfa in infantile-onset Pompe Disease from the baseline.
* To observe the efficacy on survival free of invasive ventilation, use of any ventilation support of 52- week treatment with Alglucosidase Alfa in Chinese patients with infantile-onset Pompe Disease.
* To evaluate the safety and tolerability of Alglucosidase Alfa in Chinese patients with infantile-onset Pompe Disease.

Detailed description: Total of 56 weeks in the study period, including an up to 28-day screening period and 52-week treatment period, followed by 30-day post-treatment observation period.

After the end of 52-week treatment, patients' guardians could choose to participate in a patient assistance program (PAP) sponsored by Sanofi and launched before first patient out (FPO) or reimbursement from social insurance for continued treatment.

Eligibility criteria: Inclusion criteria:

* Subject's parents or legal guardians must provide written informed consent prior to any study-related procedures.
* Documented onset of Pompe disease symptoms up to 12 months of age (corrected for gestation if born before 40 weeks); diagnosis of Pompe disease confirmed by acid alpha-glucosidase enzyme deficiency from any tissue source and acid alpha-glucosidase gene mutations.
* Age 0-12 months at enrollment, defined as at the time of providing written informed consent.
* Cardiomyopathy (abnormal left ventricular mass indices \[LVMIs\], measured by echocardiography, abnormal value is defined as ≥65 g/m2 for patients up to 12 months old) confirmed by cardiologist at study site.

Exclusion criteria:

* Patient who has previously been treated with acid alpha-glucosidase.
* Patient who is participating in another clinical study using any investigational therapy.
* Conditions/situations such as:
* Clinical signs of cardiac failure with ejection fraction \< 40%.
* Respiratory insufficiency (oxygen saturation \< 90% or carbon dioxide partial pressure \> 55 mm Hg \[venous\] or \> 40 mm hydrargyrum \[arterial\] in room air or any ventilator use).
* Patients who are dependent on invasive or non-invasive ventilator support.
* Patients with major congenital anomaly or clinically significant intercurrent organic disease unrelated to Pompe disease.
* Patients not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or patients potentially at risk of noncompliance to study procedures.

The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Primary outcomes:
measure: Survival
timeFrame: at week 52
measure: Left Ventricular Mass Index (LVMI)
timeFrame: at week 52
Secondary outcomes:
measure: Invasive ventilation-free survival
timeFrame: at week 52
measure: Any ventilation-free survival
timeFrame: at week 52
measure: Growth in body weight and length
timeFrame: at week 52
measure: Motor development milestones
timeFrame: at week 52
measure: GESELL Development Scale
timeFrame: at week 52
measure: Cardiac failure
timeFrame: at week 52
Other outcomes:
Locations:
city: Shanghai
country: China
facility: Investigational site number
Study officials:
affiliation: Sanofi
name: Clinical Sciences & Operations
role: STUDY_DIRECTOR
References:
citation: Zhu D, Zhu J, Qiu W, Wang B, Liu L, Yu X, Ou Z, Shan G, Wang J, Li B, Chen X, Liu C, Li Z, Fu L. A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease. Front Pharmacol. 2022 Jun 27;13:903488. doi: 10.3389/fphar.2022.903488. eCollection 2022.