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

• Register: ChiCTR
• Last refreshed on: 24 September 2018
• Main ID: ChiCTR1800018514
• Date of registration: 2018-09-21
• Prospective Registration: Yes
• Primary sponsor: Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine
• Public 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
• Scientific 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
• Date of first enrolment: 2018-11-06
• Target sample size: Case series:10;
• Recruitment status: Pending
• URL: http://www.chictr.org.cn/showproj.aspx?proj=30748
• Study type: Observational study
• Study design: Before-After control
• Phase: IV (Phase IV study)

Countries of recruitment

China

Contacts

• Name: Shumin Chen
• Affiliation: Sanofi (China) Investment Co., Ltd.

• Name: Ying LIU
• Affiliation: Sanofi (China) Investment Co., Ltd.

Key inclusion & exclusion criteria

Inclusion criteria: 1. Subjects parents or legal guardians must provide the written informed consent prior to any study-related procedures;
2. With 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 GAA enzyme deficiency from any tissue source and GAA gene mutations;
3. Age with 0-12 months at enrollment;
4. 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.
Defined as at the time providing written informed consent.
Exclusion criteria: 1. Patient who has previously been treated with GAA;
2. Patient who is participating in another clinical study using any investigational therapy;
3. Conditions/situations such as:
(1) Clinical signs of cardiac failure with ejection fraction < 40%;
(2) Respiratory insufficiency (O2 saturation < 90% or CO2 partial pressure > 55 mm Hg [venous] or > 40 mm Hg [arterial] in room air or any ventilator use);
(3) Patients who are dependent on invasive or non-invasive ventilator support;
(4) Patient with major congenital anomaly or clinically significant intercurrent organic disease unrelated to Pompe disease;
(5) Patient 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.

Age minimum: 0
Age maximum: 1
Gender: Both

Health Condition(s) or Problem(s) studied

Genetic and Metabolism

Intervention(s)

Case series:Alglucosidase Alfa treatment;

Primary Outcome(s)

Primary endpoints are survival (using Kaplan-Meier methodology); change from baseline in Left ventricular mass index at 52-week treatment.;

Secondary Outcome(s)

safety include incidence of AEs, discontinuation due to AEs, drug-related, serious, and severe AEs; Clinical and laboratory safety assessments include: clinical hematology, chemistry, and urinalysis; Other safety endpoints include anti-rhGAA antibody (Ig G) (optional), vital signs (body temperature, ECG;Efficacy: Survival free of invasive ventilator; Survival free of any ventilator; Physical growth: change from baseline; Number of motor development milestones;

Source(s) of Monetary Support

Sanofi (China) Investment Co., Ltd. Shanghai Branch

Ethics review

Status: Approved
Approval date: 23/08/2018
Contact: