Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q).

Brief Title

Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q).

Official Title

Development and Assessment of the Psychometric Properties of a Polycystic Liver Disease-specific Patient Reported Outcomes Questionnaire (PLD-Q).

Brief Summary

      This Pilot study will enable development & assessment of a Polycystic Liver Disease-specific
      patient reported outcomes questionnaire (PLD-Q). Polycystic liver disease (PLD) is
      characterized by the formation of numerous cysts in the liver, and can lead to severe
      symptomatic hepatomegaly. It is common in patients with autosomal dominant polycystic liver
      disease (ADPLD) and autosomal dominant polycystic kidney disease (ADPKD).

Detailed Description

      As liver function is preserved, quality of life is the main outcome in PLD. Patient reported
      outcomes are increasingly utilized to assess treatment efficacy & can include any endpoint
      derived from patient reports & are usually assessed by questionnaire. Several existing
      generic questionnaires assess gastrointestinal symptoms, but include irrelevant items for
      polycystic liver disease (PLD) & do not examine relevant extra-abdominal symptoms. Also, a
      questionnaire that assesses the full range of PLD related problems is more likely to be
      responsive to changes after treatment initiation. Therefore, a tool that accurately detects
      changes in PLD symptoms is required.

      The development and first steps of validation of this questionnaire are already completed in
      Netherlands. We will further develop this questionnaire for English speaking patients and
      validate it in Mayo Clinic cohorts.

      The study contains three phases. Phase 1: pilot testing of the directly translated
      questionnaire (from dutch into english) in a small group of polycystic liver disease (PLD)
      patients. We will include both symptomatic & asymptomatic patients (i.e. from mild to severe
      PLD). Phase 2: further refinement of the questionnaire using the results of the pilot test
      and input of Mayo patient and clinician focus groups. Phase 3: Further validation in a large
      cohort of 200 PLD patients with (1) comparison with 200 controls without PLD, (2)
      cross-sectional correlation with total liver (TLV) & kidney volumes (TKV), (3) comparing
      ADPKD patients with & without PLD (5) against other validated questionnaires (e.g. SF36) &
      (5) development of a custom "Worry Questionnaire" examining disease-related worries &
      concerns. Finally, longitudinal analyses will be performed to assess PLD-Q sensitivity to
      change in symptoms. Statistical & psychometric analyses will be provided by Mayo Clinic
      quality of life Research group, & developed in accordance with Food and Drug Administration
      (FDA) guidance on patient-reported outcome measures in consultation with their Study
      Endpoints & Labeling Development Division.

Study Type


Primary Outcome

Polycystic Liver Disease-specific patient reported outcomes questionnaire (PLD-Q) total score

Secondary Outcome

 The Short Form (36) Health Survey (SF36)


Polycystic Liver Disease



Study Arms / Comparison Groups

 Polycystic liver disease patients
Description:  will receive PLD-Q, EORTC QLQ-30 symptoms subscale, EQ5D-VAS score and SF36


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

June 2014

Completion Date

July 2024

Primary Completion Date

July 2024

Eligibility Criteria

        Inclusion Criteria:

          -  Patients ≥ 18 year

          -  Polycystic liver, defined by > 20 liver cysts on imaging

        Exclusion Criteria:

          -  Patients unable to speak or read the English properly

          -  History of kidney or liver transplantation

          -  Dialysis

          -  Current use of experimental drugs (e.g. lanreotide, octreotide)

          -  Recent liver resection or major surgery

          -  Other comorbidities that can affect the outcome of the questionnaire, as deemed by the




18 Years - N/A

Accepts Healthy Volunteers



Marie C Hogan, 507-266-1963, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Mayo Clinic

Study Sponsor

Marie C Hogan, Principal Investigator, Mayo Clinic

Verification Date

October 2021