Autosomal recessive disorder PH1
Conditions
Interventions
For Part A (SAD):
Dose Level (Cohort) Dose (mg/kg) Percent increase
1
0.05 -
2 0.1
100%
3 0.2
100%
4 0.4
100%
5
0.7 75%
6
1.0 50%
Sponsors
Dicerna Pharmaceuticals, lnc
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Diagnosis of PH1, confirmed by genotyping for homozygosity or compound heterozygosity in the AGXT gene (historically available genotype information is acceptable for study eligibility). - 24-hour urine oxalate excretion * 0.7 mmol per 1.73 m2 body surface area (BSA). - Estimated glomerular filtration rate * 40 mL/min normalized to 1.73 m2 BSA calculated using the Modification of Diet in Renal Disease (MDRD) formula in adults (age * 18 years).
Exclusion criteria
Exclusion criteria: - Prior renal and/or hepatic transplantation. - History of clinical signs and symptoms of systemic oxalosis other than nephrolithiasis or nephrocalcinosis. - Participation in any clinical study involving administration of any investigational drug within the 30 days before enrollment
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety and tolerability as determined by number of subjects with adverse events | — |
Secondary
| Measure | Time frame |
|---|---|
| 1) Determination of pharmacokinetics parameters 2) Change in plasma levels from baseline (BL) to each time point of oxalate and glycolate 3) Change in urine levels from baseline (BL) of oxalate, oxalate to creatinine ratio and glycolate | — |
Countries
Netherlands
Outcome results
None listed