A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children

NCT04002531 | Completed

• 1 other identifier: 018-706
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

The objective of this study is to obtain follow up data on a cohort of well-studied patients with Fabry disease who have been on ERT since childhood for a total of about 15 years.

Conditions

Quality of Life; Renal Insufficiency; Cardiac Event

Outcome Measures

Primary Outcomes (1)

• estimated Glomerular Filtration Rate (eGFR)

  Change in eGFR since previous participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" - NCT00084084

  Study involves one visit only - assessed Baseline Visit

Secondary Outcomes (8)

• Left Ventricular Mass Index

  Study involves one visit only - assessed Baseline Visit

• Heart rate variability assessment

  Study involves one visit only - assessed Baseline Visit

• Urine albumin/creatinine ratio

  Study involves one visit only - assessed Baseline Visit

• Plasma Lyso-Gb3

  Study involves one visit only - assessed Baseline Visit

• Plasma Gb3 and compared to plasma Gb3 results obtained during participation in study "Replagal Enzyme Replacement Therapy for Children With Fabry Disease" NCT00084084

  Study involves one visit only - assessed Baseline Visit

Study Arms (1)

Single Visit

OTHER

1. General and neurological examination 2. Vital signs including height, weight, blood pressure, pulse, temperature 3. 12 lead ECG 4. 2 hour Holter monitor for heart rate variability 5. Echocardiogram 6. Renal function will be assessed by the eGFR. The eGFR will be calculated from serum creatinine using CKD-EPI equation. 7. CBC with differential 8. Complete metabolic panel 9. Urinalysis 10. Urine Albumin/creatinine ratio. 11. Urine and plasma samples for biomarkers (Gb3, lyso-Gb3) that will be stored in -80 freezer and assayed in our lab. 12. Brief Pain Inventory questionnaire. 13. Quality of Life Questionnaires (SF36)

Other: General and Neurological examination; Other: Vital signs; Procedure: 12 lead electrocardiogram; Procedure: Echocardiogram; Procedure: Blood draw; Procedure: Urine collection; Procedure: 2-hour Holter Monitor; Other: Brief Pain Inventory questionnaire; Other: Quality of Life questionnaire

Interventions

Vital signs OTHER

Height, weight, blood pressure, heart rate, and respiratory rate and temperature will be measured.

Also known as: Blood pressure, heart rate, respiratory rate

Single Visit

Echocardiogram PROCEDURE

A non-invasive sonogram of the heart

Also known as: Cardiac echo

Single Visit

Blood draw PROCEDURE

Blood will be drawn to evaluate general health and renal function (kidney health)

Also known as: Blood collection, phlebotomy, lab test

Single Visit

Urine collection PROCEDURE

Urine will be collection to evaluate renal function (kidney health)

Single Visit

2-hour Holter Monitor PROCEDURE

A non-invasive test that measures the electrical activity of the heart continuously over 2 hours

Also known as: Holter

Single Visit

Brief Pain Inventory questionnaire OTHER

A questionnaire about daily pain

Also known as: BPI, Pain questionnaire

Single Visit

Quality of Life questionnaire OTHER

A questionnaire about the impact of disease on their activities of daily living and quality of life

Also known as: SF 36

Single Visit

General and Neurological examination OTHER

Information about your general health, neurological symptoms and current medications with be collected

Also known as: MD assessment

Single Visit

12 lead electrocardiogram PROCEDURE

A non-invasive test that measures the electrical activity of the heart

Also known as: EKG, ECG

Single Visit

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients who participated in TKT029 and who are willing and able to come to Dallas for 1 visit for standard of care testing.
• Sign the protocol informed consent form
• Have been on continuous commercial ERT since TKT029 has ended

You may not qualify if:

• Patients who are unable to understand the nature, scope, and possible consequences of the study.
• Patient does not give his written informed consent to participate in this study
• Patient is unable to comply with the protocol, e.g., uncooperative with protocol schedule, refusal to agree to all of the study procedures.
• Patient has been off ERT for an extended period of time as assessed by the investigator.

Sponsors & Collaborators

• Baylor Research Institute: lead
• Shire: collaborator

Study Sites (1)

Baylor University Medical Center

Dallas, Texas, 75246, United States

Location

Related Publications (10)

• Schiffmann R. Fabry disease. Pharmacol Ther. 2009 Apr;122(1):65-77. doi: 10.1016/j.pharmthera.2009.01.003. Epub 2009 Feb 8.

  PMID: 19318041 BACKGROUND

• Schiffmann R, Ries M. Fabry Disease: A Disorder of Childhood Onset. Pediatr Neurol. 2016 Nov;64:10-20. doi: 10.1016/j.pediatrneurol.2016.07.001. Epub 2016 Jul 29.

  PMID: 27555236 BACKGROUND

• Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22.

  PMID: 25974833 BACKGROUND

• Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl. 2006 Apr;95(451):11-5. doi: 10.1111/j.1651-2227.2006.tb02383.x.

  PMID: 16720459 BACKGROUND

• MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis. 2001;24 Suppl 2:13-4; discussion 11-2. doi: 10.1023/a:1012447102358. No abstract available.

  PMID: 11758673 BACKGROUND

• Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13.

  PMID: 19218538 BACKGROUND

• Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x.

  PMID: 29391017 BACKGROUND

• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.

  PMID: 9918480 BACKGROUND

• Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.

  PMID: 27998644 BACKGROUND

• Schiffmann R, Pastores GM, Lien YH, Castaneda V, Chang P, Martin R, Wijatyk A. Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study. Orphanet J Rare Dis. 2014 Nov 26;9:169. doi: 10.1186/s13023-014-0169-6.

  PMID: 25425121 BACKGROUND

Related Links

• Is it Fabry Disease?

MeSH Terms

Conditions

Renal Insufficiency; Cardiovascular Diseases

Interventions

Blood Pressure; Heart Rate; Respiratory Rate; epicatechin gallate; Blood Specimen Collection; Phlebotomy; Urine Specimen Collection; bactericidal permeability increasing protein

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases

Intervention Hierarchy (Ancestors)

Vital Signs; Physical Examination; Diagnostic Techniques and Procedures; Diagnosis; Hemodynamics; Cardiovascular Physiological Phenomena; Circulatory and Respiratory Physiological Phenomena; Respiration; Respiratory Physiological Phenomena; Specimen Handling; Clinical Laboratory Techniques; Punctures; Surgical Procedures, Operative; Investigative Techniques; Therapeutics

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Specific group of adults with Fabry disease who received Replagal infusions as children

Study Record Dates

• First Submitted: March 25, 2019
• First Posted: June 28, 2019
• Study Start: November 10, 2018
• Primary Completion: December 13, 2019
• Study Completion: December 13, 2019
• Last Updated: March 4, 2026

Record last verified: 2020-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)