homocystinuria MedDRA version: 8.1 Level: pref Classification code 10020365
Conditions
Interventions
Product Name: Prefolic
Pharmaceutical Form: Buccal tablet
INN or Proposed INN: 5-MTHF
CAS Number: 134-35-0
Other descriptive name: IUPAC name: 2-[4-[(2-amino-5-methyl-4-oxo-1,6,7,8-tetrahydropteridin-
Sponsors
Zambon Group S.p.A
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. signed informed consent (patient or Legal responsible) 2. >16 years of age 3. classical (non-pyridoxine responsive) homocystinuria (CBS deficiency) 4. stable clinical condition 5. willing to complete all phases and all procedures of the study 6. on B6, B12, betaine and folic acid treatment 7. 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; signed written informed consent prior to inclusion in the 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
Exclusion criteria: 1. patients taking multivitamin supplements, folic acid or creatine treatment at inclusion and throughout the duration of the study 2. episodes of thrombosis and/or embolism one year before inclusion in the study 3. history of drug and/or alcohol abuse during the 6 months before the beginning of the study 4. patients with serious illness(es) 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 5. donation or receipt of blood or blood products (within 2 months before baseline) 6. pregnant or lactating female
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To investigate the efficacy and safety of a 3 month 5-MTHF treatment in terms of decreasing total plasma Hcy (tHcy) in homocystinuric patients, while co-administered with an individual established therapy as a folic acid substitute.;Secondary Objective: Change from baseline values of plasma tHcy after 2 weeks and 1 month of treatment Change of tHcy plasma values from screening (folic acid treatment) to baseline and after 3 months of treatment Change from baseline values of: urine homocystine, S-adenosylhomocysteine, S-adenosyl methionine, methionine, endothelial dysfunction factors as the tissue-type plasminogen activated antigen (t-PA) and Plasminogen activator inhibitor type-1 antigen (PAI-1) in plasmaafter 2 weeks, 1 and 3 months of treatment Change from baseline of the isoprostane 8-iso-PGF2a concentrations in urine as a marker of the enhanced peroxidation of arachidonic acid and platelet activation after 2 weeks, 1 and 3 months of treatment. Change from baseline of fibrinogen levels, partial prothrombine time (PTT), prothrombine time (PT) and coagulation factor V Leiden in plasma after 2 weeks, 1 month and 3 months of treatment. ;Primary end point(s): To determine: Reduction from baseline of total Hcy (tHcy) in plasma after a 3 month treatment with 5-MTHF 15 mg. Baseline will be defined as the values obtained after the wash-out phase before 5-MTHF first intake. | — |
Countries
Austria, Hungary, Italy, United Kingdom
Outcome results
None listed