Fabry Disease
Conditions
Keywords
Drug Therapy
Brief summary
Fabry Disease is a rare blood disorder that some people are born with. People with Fabry disease have low levels of an enzyme called alpha-galactosidase A. This enzyme helps to cut down fat-like substances. Without alpha-galactosidase A, large forms of these substances build up and clot in blood vessels. Over time, this can affect vital organs (especially the heart, kidneys, and brain) causing serious health problems with advancing age. Agalsidase alfa (Replagal®) is a human enzyme made in the laboratory and may provide higher levels of alpha-galactosidase A. Replagal® works the same way as natural alpha-galactosidase A does. The main aim of this study is to learn more about the treatment with Replagal® in Chinese children and adults with Fabry disease. The study aims to assess the heart and kidney function in people with Fabry disease who are routinely treated with Replagal®. Other aims are to learn about the change in heart and kidney function, impact on quality of life, how the treatment with Replagal® works for people with Fabry Disease, and how safe the treatment with Replagal® is in routine real-world settings. Participants will receive with Replagal® per the routine treatment settings in China. No study-specific visits to the clinical are scheduled.
Interventions
OTHERNo intervention
This is a non-interventional study
Sponsors
Takeda
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
7 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Participants who meet all of the following criteria are eligible for this study: * Participant is greater than or equal to (\>= 7) years old. * Participant with confirmed diagnosis of Fabry disease (by investigator). * Participant never received or has received ERT (agalsidase alfa or agalsidase beta) within 12 weeks at most prior to enrolment. * Participant who will receive ERT with agalsidase alfa in routine clinical practice settings. * For \>= 18 years old, participant should sign the informed consent form (ICF); for 8-17 years old, participant and his (her) parents/ legally authorized representative (LAR) should both sign the ICF; for \< 8 years old, participant will give assent and his (her) parents/legally authorized representative should sign the ICF accordingly.
Exclusion criteria
* Participant will be excluded if they have documented New York Heart Association (NYHA) functional Class IV heart failure symptoms (Implantable cardioverter-defibrillator \[ICD\] implanted excluded), third-degree atrioventricular block (ICD implanted excluded), acute myocardial infarction within the last 3 months and severe stroke (NIH Stroke Scale \[NIHSS\] \>= to 21). * Participant has enrolled in Fabry disease interventional clinical trial currently. * Other situations that the investigator considers not suitable for participation in this study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Annualized Rate of Change in Left Ventricular Mass Index (LVMI) | Up to 18 months | The annualized rate of change in LVMI will be estimated using linear mixed effects model. |
| Annualized Rate of Change in Estimated Glomerular Filtration Rate (eGFR) | Up to 18 months | — |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change From Baseline Over Time in LVMI | Baseline, up to 18 months | — |
| Change From Baseline Over Time in LVPWD | Baseline, up to 18 months | — |
| Change From Baseline Over Time in EF | Baseline, up to 18 months | — |
| Annualized Rate of Change in Urinary Albumin to Creatinine Ratio (UACR) | Up to 18 months | — |
| Annualized Rate of Change in Urine Protein Creatine Ratio (UPCR) | Up to 18 months | — |
| Change From Baseline Over Time in eGFR | Baseline, up to 18 months | — |
| Annualized Rate of Change in Left Ventricular Posterior Wall Dimensions (LVPWD) | Up to 18 months | — |
| Change From Baseline Over Time in UPCR | Baseline, up to 18 months | — |
| Change From Baseline Over Time in 24-hour (h) Urine Protein | Baseline, up to 18 months | — |
| Change From Baseline Over Time in 36-Item Short Form Health Survey (SF-36) | Baseline, up to 18 months | SF-36 is a questionnaire that evaluates a person's HRQOL. SF-36 includes 36 questions related to 8 health dimensions: physical functioning, role-physical (role limitations due to physical health problems), bodily pain, general health, vitality (energy/fatigue), social functioning, role-emotional (role limitations due to emotional problems), and mental health. Based on these 4 scales (physical functioning, role-physical, bodily pain, general health), the physical component summary (PCS) score is generated which ranges between 0 and 100, with higher scores indicating a better quality of life. A positive change from Baseline indicates improvement. |
| Change From Baseline Over Time in Mainz Severity Score Index (MSSI) | Baseline, up to 18 months | MSSI is an instrument for quantifying the overall severity of the signs and symptoms of Fabry disease. The MSSI assigns scores based on the presence and severity of signs and symptoms in four areas: general, neurologic, cardiovascular, and renal. Each of the signs and symptoms is weighted in accordance with its relationship to morbidity. MSSI scoring ranges from 0 (healthy) to 76 (maximum severity), and it is divided into severity bands of mild (\<20), moderate (20-40), and severe (\>40) affliction. Higher score indicates more severity. |
| Number of Participants With Clinically Significant Adverse Events (AEs) With Agalsidase Alfa Treatment | Up to 18 months | — |
| Change From Baseline Over Time in UACR | Baseline, up to 18 months | — |
| Annualized Rate of Change in Ejection Fraction (EF) | Up to 18 months | — |
Countries
China
Contacts
Primary ContactTakeda Contact
Outcome results
None listed