Imaging Assessments of ARPKD Kidney Disease Progression

NCT07201025 | Recruiting

• 2 other identifiers: 24-0882R01DK114425
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 2

Brief Summary

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments. Clinical trials have been limited by the absence of robust measures of disease progression. The overall goal of this 5 year NIH-funded prospective, observational multicenter study conducted at CC (primary site) and Children's Hospital of Philadelphia (CHOP) (collaborating site) is establish a set of rapid, quantitative, and reproducible novel kidney MRI measures applicable to standard clinical MRI scanners, which could serve as potential biomarkers to measure response to therapy in patients across the disease spectrum and all ages. The investigators will recruit a total of 45 ARPKD patients and 15 healthy controls at the the two sites . All subjects will be \> or = 6yrs old with no contraindications to undergoing MRI (non contrast). ARPKD subjects will be recruited into one of 3 cohorts based on their estimated glomerular filtration rate (eGFR): early CKD (eGFR\> or =90ml/min/1.73m2), mild CKD (60-89ml/min/1.73m2) and moderate CKD (30-59ml/min/1.73m2). For ARPKD subjects, participation will last 3 years and consist of a baseline and 3 subsequent annual visits. Healthy controls will only have 1 study visit. Study visits for all participants will include collection of clinical and demographic data, clinical blood and urine tests (E.g. serum creatinine) and MRI imaging. ARPKD (but not healthy subjects) will also undergo a measured GFR test (iohexol clearance) to accurately assess their kidney function.

Conditions

Autosomal Recessive Polycystic Kidney Disease

Keywords

MRI; ARPKD; Pediatric; Ciliopathy; Biomarker

Outcome Measures

Primary Outcomes (3)

• The diagnostic performance (AUROC, sensitivity, specificity) of the multimodal MRI assessments MRF (mean kidney T1 and T2), ASL (mean kidney perfusion), and MRE (mean kidney stiffness), alone or in combination to differentiate the 4 study cohorts

  3 Years

• The relationship between the imaging biomarkers, MRF (mean kidney T1 and T2), ASL (mean kidney perfusion), and MRE (mean kidney stiffness) alone or in combination, to baseline and change in measured GFR over 3 years in the 3 ARPKD cohorts

  3 Years

• The level of agreement between breath-hold and free breathing kidney MRF assessments in the 4 cohorts

  3 Years

Secondary Outcomes (2)

• Repeatability of multimodal MRI assessments in ARPKD and healthy control subjects

  3 years

• Reproducibility of findings at the two study sites

  3 Years

Study Arms (4)

Early CKD Patients

eGFR \> or = to 90 ml/min/1.73m2

Mild CKD Patients

eGFR 60-89 ml/min/1.73m2

Moderate CKD Patients

eGFR 30-59 ml/min/1.73m2

Healthy Controls

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Inclusion criteria: ALL SUBJECTS * Ages \>6 years old * Able to lay still for 30 minutes in an MRI scanner ARPKD Patients * Clinical and/or genetic diagnosis of ARPKD * eGFR \>30ml/min/1.732 performed within the last year Healthy Controls * Otherwise healthy with no known structural or functional kidney disease * Normal documented blood pressure within the last year Exclusion criteria: ALL SUBJECTS * Contraindications to MRI (e.g. metal implants) * Parental/patient refusal to sign an informed consent/ assent form ARPKD Patients * Prior kidney or other solid organ transplant * eGFR \<30ml/min/1.732 and/or anticipated dialysis or kidney transplant within the next 3 years Healthy Controls * Systemic diseases known to place patient at risk for kidney disease (e.g. diabetes mellitus) * Obesity (BMI \>95th percentile for age for \<18 years old, or BMI\>30 for adults) * History of prematurity (\<32 weeks)

You may qualify if:

• ALL SUBJECTS
• Ages \>6 years old
• Able to lay still for 30 minutes in an MRI scanner ARPKD Patients
• Clinical and/or genetic diagnosis of ARPKD
• eGFR (creatinine based) \>30ml/min/1.732 performed within the last year Healthy Controls
• Otherwise healthy with no known structural or functional kidney disease
• No history of hypertension or documented high blood pressure within the last year

You may not qualify if:

• ALL SUBJECTS
• Contraindications to MRI (e.g. metal implants)
• Parental/patient refusal to sign an informed consent/ assent form ARPKD Patients
• Prior kidney or other solid organ transplant
• eGFR \<30ml/min/1.732 Healthy Controls
• Systemic diseases known to place patient at risk for kidney disease (e.g. diabetes mellitus)
• Obesity (BMI \>95th percentile for age for \<18 years old, or BMI\>30 for adults)
• History of prematurity (\<32 weeks gestational age)

Sponsors & Collaborators

• The Cleveland Clinic: lead
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (2)

Cleveland Clinic

Cleveland, Ohio, 44195, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Publications (3)

• MacAskill CJ, Kretzler ME, Parsons A, Gange V, Hach J, Larson S, Zhu Y, Perino J, Farr S, Markley M, Pritts N, Perera-Gonzalez M, Clark HA, Kuehn B, Liu KC, Yu X, Ma D, Chen Y, Flask CA, Dell KM. Multimodal Magnetic Resonance Imaging Assessments of Kidney Disease Severity in Autosomal Recessive Polycystic Kidney Disease. Kidney Int Rep. 2024 Sep 12;9(12):3592-3595. doi: 10.1016/j.ekir.2024.09.006. eCollection 2024 Dec. No abstract available.

  PMID: 39698366 BACKGROUND

• MacAskill CJ, Markley M, Farr S, Parsons A, Perino JR, McBennett K, Kutney K, Drumm ML, Pritts N, Griswold MA, Ma D, Dell KM, Flask CA, Chen Y. Rapid B1-Insensitive MR Fingerprinting for Quantitative Kidney Imaging. Radiology. 2021 Aug;300(2):380-387. doi: 10.1148/radiol.2021202302. Epub 2021 Jun 8.

  PMID: 34100680 BACKGROUND

• MacAskill CJ, Erokwu BO, Markley M, Parsons A, Farr S, Zhang Y, Tran U, Chen Y, Anderson CE, Serai S, Hartung EA, Wessely O, Ma D, Dell KM, Flask CA. Multi-parametric MRI of kidney disease progression for autosomal recessive polycystic kidney disease: mouse model and initial patient results. Pediatr Res. 2021 Jan;89(1):157-162. doi: 10.1038/s41390-020-0883-9. Epub 2020 Apr 13.

  PMID: 32283547 BACKGROUND

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Recessive; Ciliopathies

Condition Hierarchy (Ancestors)

Polycystic Kidney Diseases; Kidney Diseases, Cystic; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Katherine M Dell, MD

  The Cleveland Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Katherine M Dell, MD

CONTACT

216-444-6123; pedsresearch@ccf.org

Research Coordinator

CONTACT

216-386-9360; pedsresearch@ccf.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Pediatrics

Study Record Dates

• First Submitted: September 23, 2025
• First Posted: October 1, 2025
• Study Start: December 12, 2024
• Primary Completion (Estimated): February 28, 2029
• Study Completion (Estimated): February 28, 2029
• Last Updated: November 21, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)