D

Phase 1

• Conditions: Fabry disease; MedDRA version: 20.0Level: SOCClassification code 10010331Term: Congenital, familial and genetic disordersSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Digestive System Diseases [C06]

• Registration Number: EUCTR2018-000368-27-IT
• Lead Sponsor: FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS UNIVERSITA' CATTOLICA DEL SACRO CUORE

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2020-11-04
• Last Update Posted: 9 November 2020

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 14

Inclusion Criteria

•Informed Consent signed, before any trial procedures are performed
•Male or female patients
•Age =18 years
•Confirmed diagnosis of Fabry disease and concomitant treatment with standard dose of agalsidase alfa for at least 1 years, without any dose modification
•Presence of continuous gastrointestinal involvement for the previous 4 months before the screening, with at least 1 symptom reported in the GRSG questionnaire
•Elevated plasma lyso-GL3 (plasma lyso-Gl3 > 7 ng/ml)

Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 7
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 7

Exclusion Criteria

•plasma lyso-Gl3= 7 ng/ml at baseline and/or no evidences of GI symptoms.
•Patients with a diagnosis of chronic inflammatory diseases defined according to the criteria of the International Classification: gastroenterological, rheumatologic, immunologic autoimmune diseases
•Patients diagnosed with any type of cancer in evolution
•Patients diagnosed with infectious disease certified through microbiological tests performed in the last 12 months (included in the medical history of the patient)
•Patients with IBD, Celiac disease or other inflammatory chronic disease such as Crohn disease or rectal ulcerative colitis (RUC )
•Pregnancy or lactation
•Concomitant medication with chloroquine, amiodarone, benoquin or gentamycin, due to a theoretical risk of inhibition of intra-cellular a- Gal A activity.
•Known allergy to one or more of the components of agalsidase beta

Study & Design

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

Primary Outcome Measures

Name	Time	Method
Main Objective: To evaluate any difference in plasma Lyso gl3 measure and clinical outcomes in gastrointestinal involvement in patients with GI involvement switched from agalsidase alfa to beta. ;Secondary Objective: to identify differences in intestinal microbiota composition in a cohort of patients switched from a standard dose of agalsidase alfa to agalsidase beta.;Primary end point(s): 1.The primary endpoint will be focused on the evaluation of plasma level of Lyso GL3 and gastrointestinal symptoms evaluated through the validated scale Gastrointestinal Symptom Rating Scale” (GSRS) at baseline and after the switch from agalsidase alfa to beta. ;Timepoint(s) of evaluation of this end point: 12 months

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): Intestinal microbiota: three samples intestinal fecal will be recollected at baseline and at the time of standard follow up to evidence any differences in the colonization of intestinal bacteria.;Timepoint(s) of evaluation of this end point: 12 months