Recruiting

Observational Study

Sponsor:

The Cleveland Clinic

Code:

NCT07201025

Conditions

Autosomal Recessive Polycystic Kidney Disease

Eligibility Criteria

Sex: All

Age: 6+

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT07201025

Start date

Dec 12, 2024

Status verified date

Nov, 2025

Completion date

Feb 28, 2029

Anticipated

Primary completion date

Feb 28, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 6+

Healthy Volunteers: Accepted

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 (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

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 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)

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

  • 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 [ Time Frame: 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 [ Time Frame: 3 Years ]
  • The level of agreement between breath-hold and free breathing kidney MRF assessments in the 4 cohorts [ Time Frame: 3 Years ]

Central Contacts and Locations

Central contacts

Katherine M Dell, MD

216-444-6123pedsresearch@ccf.org

Research Coordinator

216-386-9360pedsresearch@ccf.org

Locations

Cleveland Clinic

Recruiting

Cleveland, Ohio, United States, 44195

Contacts

Research Coordinator

216-386-9360pedsresearch@ccf.org

Principal Investigator:

Katherine M Dell, MD

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Erum Hartung, MD, MTR

215-590-2449ARPKD_studies@chop.edu

Kathryn Howarth

267-425-5541

Principal Investigator:

Erum Hartung, MD, MTR

More Information

Sponsor

The Cleveland Clinic

Last update posted

Nov 21, 2025

Last verified

Nov, 2025

Keywords

  • MRI
  • ARPKD
  • Pediatric
  • Ciliopathy
  • Biomarker

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by The Cleveland Clinic on 2025-11-21.