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

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Polycystic Liver Disease

Intervention / Treatment
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* Other: PLD-Q


Participation Criteria
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Eligibility Criteria
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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 investigators

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Polycystic liver disease patients<br>will receive PLD-Q, EORTC QLQ-30 symptoms subscale, EQ5D-VAS score and SF36 | Other: PLD-Q<br>* polycystic liver disease questionnaire<br>|
| ADPKD group without PLD<br>will receive PLD-Q | |
| Healthy controls<br>receive PLD-Q | Other: PLD-Q<br>* polycystic liver disease questionnaire<br>|
| PLD patient focus group<br>to discuss and improve PLD-Q | |
| PLD clinical expert focus group<br>to discuss and improve PLD-Q | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Polycystic Liver Disease-specific patient reported outcomes questionnaire (PLD-Q) total score | total score on the PLD-Q | baseline to 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The Short Form (36) Health Survey (SF36) |  | baseline to 6 months | 
| European Organisation for Research and Treatment of Cancer Quality of life questionnaire (EORTC-QLQ-C30) symptom subscale |  | baseline to 6 months | 
| Euroqol group 5 dimensions questionnaire visual analog score (EQ5D-VAS) |  | baseline to 6 months | 
| Total liver volume |  | baseline | 
| Total kidney volume | measured in patients with autosomal dominant polycystic kidney disease (ADPKD) | baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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autosomal dominant polycystic liver disease, autosomal dominant polycystic kidney disease, quality of life, patient reported outcome tool