Principal Investigator: Nicola Longo
Keywords: Fabry , Bright , Protalix Department: Pediatric Genetics
IRB Number: 00104191
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Carrie Bailey
carrie.bailey@hsc.utah.edu
8015873605

Simple Summary

The BRIGHT Study is an international clinical research study for patients with Fabry disease. The potential new medication – an investigational medication – is a type of enzyme replacement therapy, or ERT. It has been developed to help break down the particular fat (lipid molecule) that builds up in the body because of Fabry disease. The investigational medication has been designed to last longer in the body, which might help protect the body’s organs from the effects of Fabry disease and reduce symptoms. The BRIGHT Study will be evaluating whether participants can receive double the dose with 1 infusion per month.

Inclusion Criteria

1. Age: 18-60 years
2. A documented diagnosis of Fabry disease
3. Males: plasma and/or leukocyte alpha galactosidase activity (by activity assay) less than lower limit of normal according to the laboratory reference ranges and one or more of the characteristic features of Fabry disease
a. Neuropathic pain
b. Cornea verticillata
c. Clustered angiokeratoma
4. Females: historical genetic test results consistent with Fabry mutations, or in the case of novel mutations a first-degree male relative with Fabry disease, and one or more of the characteristic features of Fabry disease
a. Neuropathic pain
b. Cornea verticillata
c. Clustered angiokeratoma
5. Treatment with agalsidase alfa or agalsidase beta for at least 3 years and on a stable dose (>80% labelled dose/kg) for at least 6 months
6. eGFR ≥ 30 mL/min/1.73 m2 by CKD-EPI equation at screening visit
7. Availability of at least 3 historical serum creatinine evaluations since starting agalsidase alfa or agalsidase beta treatment and not more than 2 years old
8. Female patients and male patients whose co-partners are of child-bearing potential agree to use a medically accepted, highly effective method of contraception. These include combined (estrogen- and progestogen-containing) hormonal contraception associated with inhibition of ovulation (oral, intravaginal, or transdermal), progestogen-only hormonal contraception associated with inhibition of ovulation (oral, injectable, or implantable), intrauterine device (IUD), intrauterine hormone-releasing system (IUS), bilateral tubal occlusion, vasectomised partner, or sexual abstinence
9. Patients whose clinical condition, in the opinion of the Investigator, is suitable for treatment with ERT every 4 weeks.

Exclusion Criteria

1. History of anaphylaxis or Type 1 hypersensitivity reaction to agalsidase alfa or agalsidase beta.

2. History of renal dialysis or transplantation

3. Linear negative slope of eGFR of ≥ 2 mL/min/1.73 m2 based on at least 4 serum creatinine values over approximately 2 years (including the value obtained at the screening visit)

4. History of acute kidney injury in the 12 months prior to screening, including specific kidney diseases (e.g., acute interstitial nephritis, acute glomerular and vasculitic renal diseases); non-specific conditions (e.g., ischemia, toxic injury); as well as extrarenal pathology (e.g., prerenal azotemia and acute post renal obstructive nephropathy)

5. Angiotensin converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) therapy initiated or dose changed in the 4 weeks prior to screening

6. Urine protein to creatinine ratio (UPCR) at screening > 0.5 g/g or mg/mg or 500 mg/g and not treated with an ACE inhibitor or ARB

7. Females who are pregnant, planning to become pregnant during the study, or are breast feeding

8. Cardiovascular event (myocardial infarction, unstable angina) in the 6-month period before screening

9. Cerebrovascular event (stroke, transient ischemic attack) in the 6-month period before screening

10. Presence of any medical, emotional, behavioral, or psychological condition that, in the judgment of the Investigator and/or Medical Director, would interfere with the patient’s compliance with the requirements of the study.

Participant Reimbursement

There is no cost to you. You may receive $75 per completed study infusion as compensation for your efforts and the time required in connection with the study. At week 1 and week 14 you will be paid $250 for each week because of the extra lab draws. If you participate in all visits, you could receive $4400. Travel expenses to the hospital and the costs for food and accommodation during the study visits will be reimbursed by a 3rd party as outlined in the Sponsors’ travel policy. Other reasonable expenses related to your participation may be considered by the Sponsor by request.