Primary Hyperoxaluria Type I Clinical Trial
— PHOX-B6-PilotOfficial title:
PILOTSTUDIE ZUR PYRIDOXALPHOSPHATTHERAPIE BEI PATIENTEN MIT PRIMÄRER HYPEROXALURIE TYP I (PHOX-B6-PILOT) Pilot Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate
In this study the investigators will prospectively analyze the reduction of urinary oxalate excretion under the treatment with PLP in dosages of 5mg/kg/day up to 20 mg/kg/day and serum level response relationship with PLP as an i.v. solution used orally in 12 patients with primary hyperoxaluria type I as an inherited autosomal-recessive-disorder leading to increased endogenous oxalate production, urolithiasis and end stage renal disease.
| Status | Completed |
| Enrollment | 12 |
| Est. completion date | September 2012 |
| Est. primary completion date | September 2012 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | 5 Years to 60 Years |
| Eligibility |
Inclusion Criteria: - Documentation of diagnosis of PH I by any one of the following: - Liver biopsy confirmation of deficient liver specific peroxisomal alanine-glyoxylate aminotransferase, (AGT or mislocalization of AGT from peroxisomes to mitochondria) - Homozygosity or compound heterozygosity for a known mutation in the causative gene (AGXT) for PH I - Male or female subjects between 5 years and 60 years of age - Renal function defined as an estimated GFR > 60 ml/min normalized to 1.73 m2 body surface area - Subjects receiving pyridoxal-phosphate before the study must be willing to discontinue therapy with pyridoxal-phosphate for a wash out phase of at least 4 weeks but always until normalization of serum pyridoxal-phosphate levels - Written informed consent from patients and/or legally acceptable representatives Exclusion Criteria: - Pregnant or lactating women - Women of child-bearing potential who are not using a highly effective contraception method with a pearl-index < 1. Highly effective contraception methods are oral, transdermal, injectable, or implanted contraceptives, IUD, abstinence, or sterile sexual partner and must agree to continue using such precautions during the pyridoxal-phosphate study - Subjects post liver or kidney transplantation or combined transplantation - Chronic diarrhoea with the risk of malabsorption - Any other abnormal finding such as physical examination or laboratory evaluation, in the opinion of the investigator, is indicative of a disease that would compromise the safety taking pyridoxal-phosphate per os and the absorption - Subjects participating in other clinical trials with investigational products 4 weeks prior to trial entry, during the trial and 4 weeks after the trial - Subjects who are unable to take the trial medication - Subjects who are unable to collect 24-hour urine samples or follow other study procedures - Subjects who are under treatment with L-Dopa, Isoniazid, D-Penicillamine (interactions between these drugs and pyridoxal-phosphate are known and might influence serum pyridoxal-phosphate levels) - Subjects with known allergies to substances of contents (e.g. Potassium sorbet, raspberry syrup) - Subjects confined to an institution on judicial or official behalf - Subjects who are in dependency to the sponsor or the PI of the trial |
Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
| Country | Name | City | State |
|---|---|---|---|
| Germany | Children´s Hospital University of Cologne | Cologne | NRW |
| Lead Sponsor | Collaborator |
|---|---|
| University of Cologne |
Germany,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | The primary endpoint of the study is the reduction of the urinary oxalate excretion (percentage change in urinary oxalate, expressed as mmol/1.73 m2 /day) at week 24 compared to baseline. | 6 month | No |