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A multicentre, open-label study to evaluate the efficacy and safety of 5-MTHF administration, added on to the individual established therapy, on plasma homocysteine levels in patients with congenital homocystinuria - ND

Conditions
Homocystinuria
MedDRA version: 6.1Level: PTClassification code 10020365
Registration Number
EUCTR2006-000614-21-IT
Lead Sponsor
ZAMBON GROUP
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Recruiting
Sex
All
Target Recruitment
22
Inclusion Criteria

signed informed consent (patient and countersigned by Legal responsible in case of patients below age of consent);

≥16 years of age;

classical (non-pyridoxine responsive) homocystinuria (CBS deficiency);

stable clinical condition;

willing to complete all phases and all procedures of the study;

on B6, B12 and betaine and FA treatment;

ability to comprehend the full nature and purpose of the study, including possible risks and side effects; ability to co-operate with the Investigator and to comply with the requirements of the entire study.
Are the trial subjects under 18? yes
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
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

anticipated need of multivitamin supplements, folic acid or creatine treatment throughout the duration of the study

episodes of thrombosis and/or embolism one year before inclusion in the study

history of drug and/or alcohol abuse with 6 months of baseline

serious undercurrent illness(as) or diseases (e.g., haematological, renal, hepatic, respiratory, endocrine, psychiatric) that may interfere with, or put patients at additional risk for their ability to receive the treatment outlined in the protocol

donation or receipt of blood or blood products (within 2 months before baseline)

pregnant or lactating female

Investigative drug trials: participation in the evaluation of any drug within 3 months prior to the start of the study

substantial changes in eating habits within the past 4 weeks.

Study & Design

Study Type
Interventional clinical trial of medicinal product
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Main Objective: To investigate the efficacy and safety of a 3 month 5-MTHF treatment in terms of decreasing total plasma homocysteine (tHcy) in homocystinuric patients, while co-administered with an individual established therapy as a folic acid substitute.;Secondary Objective: ;Primary end point(s): Reduction from baseline of tHcy in plasma induced by 3 months treatment with 5-MTHF 15 mg. Baseline will be defined as the tHcy levels observed after the wash-out phase, before 5-MTHF first intake.
Secondary Outcome Measures
NameTimeMethod
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