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NCT Number: NCT07187440

A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease

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.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

7 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

The First Affiliated Hospital Of USTC (AnHui Provincial Hospital), Hefei, Anhui, China

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

This is a non-interventional study

Primary outcomes

  1. Annualized Rate of Change in Left Ventricular Mass Index (LVMI)

    Time frame: Up to 18 months

    The annualized rate of change in LVMI will be estimated using linear mixed effects model.

  2. Annualized Rate of Change in Estimated Glomerular Filtration Rate (eGFR)

    Time frame: Up to 18 months

Secondary outcomes

  1. Annualized Rate of Change in Left Ventricular Posterior Wall Dimensions (LVPWD)

    Time frame: Up to 18 months

  2. Annualized Rate of Change in Ejection Fraction (EF)

    Time frame: Up to 18 months

  3. Change From Baseline Over Time in LVMI

    Time frame: Baseline, up to 18 months

  4. Change From Baseline Over Time in LVPWD

    Time frame: Baseline, up to 18 months

  5. Change From Baseline Over Time in EF

    Time frame: Baseline, up to 18 months

  6. Annualized Rate of Change in Urinary Albumin to Creatinine Ratio (UACR)

    Time frame: Up to 18 months

  7. Annualized Rate of Change in Urine Protein Creatine Ratio (UPCR)

    Time frame: Up to 18 months

  8. Change From Baseline Over Time in eGFR

    Time frame: Baseline, up to 18 months

  9. Change From Baseline Over Time in UACR

    Time frame: Baseline, up to 18 months

  10. Change From Baseline Over Time in UPCR

    Time frame: Baseline, up to 18 months

  11. Change From Baseline Over Time in 24-hour (h) Urine Protein

    Time frame: Baseline, up to 18 months

  12. Change From Baseline Over Time in 36-Item Short Form Health Survey (SF-36)

    Time frame: 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.

  13. Change From Baseline Over Time in Mainz Severity Score Index (MSSI)

    Time frame: 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.

  14. Number of Participants With Clinically Significant Adverse Events (AEs) With Agalsidase Alfa Treatment

    Time frame: Up to 18 months

Study contacts

Contact information is provided by the study sponsor or research team.

Takeda Contact

CONTACT

[email protected]

+1-877-825-3327

Sponsors and collaborators

Lead sponsor

Takeda

Industry

Registry information

Official study title

A Prospective, Multi-center, Observational Study to Evaluate the Clinical Outcomes of Agalsidase Alfa Enzyme Replacement Therapy Among Chinese Patients With Fabry Disease in Real-world Clinical Practice

Important dates

Study start
2025
Primary completion
2028
Study completion
2028
First posted
Sep 23, 2025
Registry last updated
Jan 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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