Ensayos clínicos

Inclusion Criteria:

• Male or female subjects between 28 days and < 12 weeks of age, inclusive.
• Must have clinical and imaging features that are consistent with a diagnosis of ARPKD with all the following characteristics:
  • Nephromegaly (> 2 standard deviations from age appropriate standard via ultrasound);
  • Multiple renal cysts;
  • History of oligohydramnios or anhydramnios.
• Ability for parent or guardian to provide written, informed consent prior to initiation of any trial-related procedures, and ability, in the opinion of the principal investigator, to comply with all the requirements of the trial.

Exclusion Criteria:

• Premature birth (≤ 32 weeks gestational age).
• Anuria or RRT.
• Evidence of syndromic conditions associated with renal cysts (other than ARPKD).
• Abnormal liver function tests including ALT and AST, > 1.2 × ULN.
• Parents with renal cystic disease.
• Need for chronic diuretic use.
• Cannot be monitored for fluid balance.
• Critical electrolyte imbalances, as determined by the investigator.
• Has or at risk of having significant hypovolemia as determined by investigator.
• Clinically significant anemia, as determined by investigator.
• Severe systolic dysfunction defined as ejection fraction < 14%.
• Serum sodium levels < 130 mmol/L.
• Cannot be taking any other experimental medications.
• Require ventilator support.
• Taking medications known to induce CYP3A4.
• Having an infection including viral that would require therapy disruptive to IMP dosing.
• Platelet count < 50,000 µL.