Natural History of Patients With PH3 and a History of Stone Events

NCT04542590 | Completed

• 1 other identifier: DCR-PHXC-502
• Study Type: observational
• Target: 7
• Locations: 5 countries
• Sites: 6

Brief Summary

This is a natural history study of adults, adolescents, and children (starting at birth) with genetically confirmed primary hyperoxaluria type 3 (PH3) who have a history of stone events during the last 3 years and/or the presence of pre existing stones detected by renal ultrasound at screening.

Conditions

Primary Hyperoxaluria Type 3

Keywords

primary hyperoxaluria; PH3; observational; kidney stones; nephrocalcinosis

Outcome Measures

Primary Outcomes (3)

• Collect stone formation data in PH3 patients

  Collect data on the rate of new stone formation in PH3 patients of at least 2 years of age

  Assess participants' stone formation rates over the course of 2 years

• Assess relationship between urine oxalate (Uox) levels and stone formations in PH3 patients

  Explore the potential relationship between Uox levels and new stone formation in patients (≥ 2 years of age) with genetically confirmed PH3 and relatively intact renal function

  Measure participants' Uox levels over the course of 2 years

• Collect data on the degree of nephrocalcinosis in PH3 patients

  Collect data on the degree of nephrocalcinosis in PH3 patients of at least 2 years of age

  Assess the change in nephrocalcinosis grade over the course of 2 years

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This is a natural history study in adults, adolescents, and children (starting from birth) with genetically confirmed PH3 who have a history of stone events during the last 3 years and/or the presence of preexisting stones detected by renal ultrasounds at Screening, and an eGFR \> 30 mL/min/1.73 m2 or serum creatinine below the 97th percentile for patients younger than 12 months old.

You may qualify if:

• Genetically confirmed PH3
• For participants at least 2 years of age, history of stone events (defined as presence of calcifications in the urinary tract and/or kidney, their relative location, and the number and size of stones) during the last 3 years and/or presence of pre-existing stones detected by renal ultrasound at Screening
• Uox ≥ 0.7 mmol/24 hours (adjusted per 1.73 m2 BSA in participants \< 18 years of age) OR if not able to collect 24-hour urine, average spot Uox to creatinine ratio at Screening above the 95th percentile for age:
• \> 220 mmol/mol in participants \< 6 months
• \> 170 mmol/mol in participants from 6 months to \< 12 months
• \> 130 mmol/mol in participants 12 months to \< 2 years
• \> 100 mmol/mol in participants from 2 to \< 3 years and
• \> 80 mmol/mol in participants from 3 to 5 years
• eGFR at Screening ≥ 30 mL/min or for infants aged less than 12 months, serum creatinine below the 97th percentile of a healthy population

You may not qualify if:

• Prior or planned liver transplant within study period
• Currently receiving dialysis or anticipating dialysis during study period
• Unwillingness to comply with study procedures

Sponsors & Collaborators

• Dicerna Pharmaceuticals, Inc., a Novo Nordisk company: lead

Study Sites (6)

Clinical Trial Site

Boston, Massachusetts, 02115, United States

Location

Clinical Trial Site

New York, New York, 10016, United States

Location

Clinical Trial Site

Toronto, Ontario, M5G 1X8, Canada

Location

Clinical Trial Site

Heidelberg, 69120, Germany

Location

Clinical Trial Site

Warsaw, 04-141, Poland

Location

Clinical Trial Site

London, WC1N 3JH, United Kingdom

Location

MeSH Terms

Conditions

Hyperoxaluria, Primary; Kidney Calculi; Nephrocalcinosis

Condition Hierarchy (Ancestors)

Hyperoxaluria; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Nephrolithiasis; Urolithiasis; Urinary Calculi; Calculi; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Calcinosis; Calcium Metabolism Disorders

Study Officials

• Verity Rawson

  Dicerna, A Novo Nordisk Company

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 20, 2020
• First Posted: September 9, 2020
• Study Start: September 9, 2021
• Primary Completion: July 23, 2024
• Study Completion: July 23, 2024
• Last Updated: December 2, 2024

Record last verified: 2024-11

Locations

DE (1); US (2); CA (1); GB (1); PL (1)