As concern objective number 1: Patients affected by glycogen storage disease (GSD) type 1a and patients affected by GSD1b with renal dysfunction including glomerular hyperfiltration, microalbuminuria and/or proteinuria As concern objective number 2: Patients affected by GSD1b showing neutropenia MedDRA version: 9.1 Level: LLT Classification code 10018464 Term: Glycogen storage disease type I
Conditions
Interventions
Trade Name: QUARK
Pharmaceutical Form: Tablet
INN or Proposed INN: Ramipril
Concentration unit: mg milligram(s)
Concentration type: equal
Concentration number: 2.5-
Trade Name: EPHYNAL
Pharmaceutical
Sponsors
Dipartimento di Pediatria
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Inclusion criteria will be represented by the demonstration of the diagnosis of GSD 1a-either by enzyme studies and/or mutation analysis-and GSD1b-either by enzyme studies and/or mutation analysis 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: Exclusion criteria will be the inability to comply with the protocol and with the therapy. Pregnancy and breastfeeding
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: are1) to perform a prospective study to analyse the effectiveness of ACE-inhibitors in improving the various manifestations of renal dysfunction (including hyperfiltration, microalbuminuria, proteinuria) and in delaying the progression of renal damage in both GSD1a and GSD1b patients, 2) to study the efficacy of vitamin E on the neutropenia, neutrophil dysfunction and IBD in GSD1b patients;Secondary Objective: 1.1 A reduction of the number of the patients needing dialysis and/or kidney transplantantion; 1.2 An improvement of patients' quality of life. 2.1 G-CSF therapy dose-reduction with consequent improvement of the G-CSF-related adverse effects. 2.2 Improvement of GSD1b patients' quality of life.;Primary end point(s): aim 1) 1.1 A 50% reduction of the value of glomerular hyperfiltration, microalbuminuria and proteinuria in patients treated with ACE-inibitors. 1.2 Lack of a progression of renal damage under ACE-inibitors treatment. 1.3 A significant difference in renal function assessment between the sub-groups of treated and untreated patients after a two-year follow-up. 1.4 A significant difference in the progression of renal damage between the sub-groups of treated and untreated patients after a two-yaer follow-up. Aim 2) 2.1 A 25% increase of neutrophil mean, median and nadir value(as compared to the previous year) under vitamin E supplemention; 2.2 A 25% reduction of the frequency of infections, frequency of hospital admission and inflammatory bowel activity | — |
Countries
Italy
Outcome results
None listed