An investigation of 3 dosages of Replagal in adult patients with Fabry disease

• Conditions: Fabry Disease; MedDRA version: 14.1Level: PTClassification code 10016016Term: Fabry's diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Body processes [G] - Genetic Phenomena [G05]

• Registration Number: EUCTR2007-005543-22-CZ
• Lead Sponsor: Shire Human Genetic Therapies, Inc. (Shire HGT)

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2008-01-02
• Last Update Posted: 4 February 2013

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 43

Inclusion Criteria

1. The patient is = 18 years-old.
2a. The patient is a hemizygous male with Fabry disease as confirmed by a deficiency of
a-galactosidase-A activity measured in serum, leukocytes, or fibroblasts. Male
patients who do not already have a documented deficiency of a-galactosidase-A
activity will provide a blood sample during Screening for determination of
a-galactosidase-A activity level in their serum.
OR
2b. The patient is a heterozygous female with Fabry disease as confirmed by a mutation
of the a-agalactosidase A gene. Female patients who do not already have a
documented mutation of the a-galactosidase A gene will provide a blood sample
during Screening for genotyping.
3. The patient has not received enzyme replacement therapy (ERT) for Fabry disease
(i.e., the patient is ERT-naïve).
4. The patient’s LVM/h is > 50 g/m2.7 for male patients and > 47 g/m2.7 for female
patients, as measured by echocardiography, which is the upper limit of normal.
5. Female patients of child-bearing potential must agree to use a medically acceptable
method of contraception at all times during the study and must have a negative
pregnancy test at the time of enrollment and as required throughout their participation
in the study.
6. The patient has provided written informed consent that has been approved by the
Institutional Review Board/Independent Ethics Committee (IRB/IEC).
Are the trial subjects under 18? no
Number of subjects for this age range: 0
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 39
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 4

Exclusion Criteria

1. The patient has documented NYHA functional class IV heart failure symptoms.
2. The patient has clinically significant systemic hypertension defined as an untreated
resting blood pressure (BP) > 160 / 110 mmHg or poorly controlled hypertension
defined as a BP > 150 / 100, while receiving medication(s) for treatment of
hypertension.
3. The patient has hemodynamically significant valvular stenosis or regurgitation by
Doppler echocardiography.
4. The patient is morbidly obese, defined as having a body mass index > 39 kg/m2.
5. The patient has a known autosomal dominant sarcoplasmic contractile protein gene
mutation.
6. The patient has received treatment with any investigational drug or device within the
30 days prior to study entry.
7. The patient is unable to comply with the protocol, e.g., has a clinically relevant medical condition making implementation of the protocol difficult, has an
uncooperative attitude, is unable to return for safety evaluations, or is otherwise
unlikely to complete the study, as determined by the Investigator.
8. The patient has a positive test for hepatitis B surface antigen, hepatitis C antibody, or
human immunodeficiency virus (HIV) antibody.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified