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Trial record 2 of 6 for:    "lattice corneal dystrophy type II" OR "Familial Amyloidosis"

Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01604122
First Posted: May 23, 2012
Last Update Posted: April 12, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Pfizer
  Purpose
This study is an online (web-based) or paper-based survey for patients with transthyretin familial amyloidosis polyneuropathy (TTR-FAP) and caregivers. The results will be used to describe the emotional, physical, and financial impact of having TTR-FAP or caring for someone who has the disease.

Condition Intervention
Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) Transthyretin Cardiomyopathy (TTR-CM) Familial Amyloid Cardiomyopathy Senile Systemic Amyloidosis (SSA) Other: No drug

Study Type: Observational
Study Design: Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers

Resource links provided by NLM:


Further study details as provided by Pfizer:

Primary Outcome Measures:
  • Demographical Characteristics of Participants [ Time Frame: Baseline (Day 1) ]
    Main characteristics included were education level and employment status which were asked from all participants and caregivers. Type of job (full-time, part-time) was asked only from those participants and caregivers who provided their employment status as employed. Those who were unemployed reported their cause of unemployment, whether it was due to ATTR or not.

  • Disease Characteristics of Participants: Disease Duration [ Time Frame: Baseline (Day 1) ]
    Duration of disease was defined as the time from diagnosis of disease until baseline visit. This outcome measure was planned to be assessed for reporting arm of participants diagnosed with ATTR.

  • Disease Characteristics of Participants: Mutation Type [ Time Frame: Baseline (Day 1) ]
    Genetic mutation leads to misfolding of protein transthyretin (TTR) which results in ATTR. In this outcome, number of participants with each type of resulted mutation type (Val30Met, wild type TTR, Phe64Leu, Ser77Tyr, Thr60Ala or other than these) were reported. This outcome was planned to be assessed for reporting arm of participants diagnosed with ATTR.

  • Disease Characteristics of Participants: Liver Transplantation Status [ Time Frame: Baseline (Day 1) ]
    TTR protein is primarily synthesized in the liver. Liver transplantation was considered as one of the measure to eliminate the main source of variant TTR. In the study, participants who were diagnosed with ATTR were asked for their liver transplantation status (whether they had transplantation or not). In this outcome measure, number of participants with liver transplant status were reported. This outcome was planned to be assessed for reporting arm of participants diagnosed with ATTR.

  • Disease Characteristics of Participants: Number of Participants With Family History of ATTR [ Time Frame: Baseline (Day 1) ]
    Family history of participants diagnosed with ATTR was assessed to determine whether family history of ATTR was a significant risk factor for ATTR or not. This outcome was planned to be assessed for reporting arm of participants diagnosed with ATTR.

  • Disease Characteristics of Participants: Mobility Status [ Time Frame: Baseline (Day 1) ]
    Mobility, i.e., ability to walk was assessed as a part of loss of functioning in the participants diagnosed with ATTR. In this outcome, number of participants with their different mobility status along with the use of mobility aids (able to walk normally, some problems with feet but able to walk without difficulty, some difficulty walking but can walk without help, confined to bed all the time, need 1 cane or crutch to walk, need 2 canes/crutches or a walker to walk) were reported.

  • 12-Item Short-Form Health Survey (SF-12) Scores [ Time Frame: Baseline (Day 1) ]
    SF-12 was a patient reported outcome survey that represented overall health status by measuring 8 health-related aspects of an individual: Body pain, general mental health, perception of general health, physical functioning, role limitations caused by mental condition, role limitations caused by a physical condition, social functioning, and vitality. The score range for each of the 8 health aspects was from 0 (poor health) to 100 (better health), higher scores indicating good health condition. Responses on the SF-12 were also used to calculate 2 summary scores: Physical component score (PCS) and mental component score (MCS). The score range for each of these 2 summary scores was from 0 (poor health) to 100 (better health), where 100 indicated good health condition.

  • Hospital Anxiety and Depression Scale (HADS): Depression and Anxiety Subscale Scores [ Time Frame: Baseline (Day 1) ]
    HADS: participant rated 14-item questionnaire with 2 subscales; HADS-anxiety scale (HADS-A) and HADS-depression scale (HADS-D). HADS-A assesses state of generalized anxiety (anxious mood, restlessness, anxious thoughts, panic attacks); HADS-D assesses state of lost interest and diminished pleasure response (lowering of hedonic tone). Each subscale comprised of 7 items and the participant responds as to how each item applies to him/her over the past week prior to baseline visit, on 4-point response scale. Separate scores were calculated for anxiety and depression with score ranges from 0 (no presence of anxiety or depression) to 3 (severe feeling of anxiety or depression). Total score range was from 0 to 21 for each subscale; higher score indicating greater severity of anxiety and depression symptoms.

  • Euro Quality of Life (EQ-5D-3L)- Health State Profile Utility Score [ Time Frame: Baseline (Day 1) ]
    EQ-5D-3L: participant rated questionnaire to assess generic health status in two parts: single utility score and visual analog scale. For utility score, participants rated their current health state on 5 dimensions: mobility, self-care, usual activities, pain and discomfort, and anxiety and depression with each dimension having three levels of function: 1 indicates no problem; 2 indicates some problem; 3 indicates extreme problem. Scoring formula developed by EuroQol Group assigns a utility value for each domain in the profile. Score was transformed and results in a total score range of 0.05 to 1.00; higher scores indicating a better health state.

  • Euro Quality of Life (EQ-5D-3L)- Visual Analog Scale (VAS) Score [ Time Frame: Baseline (Day 1) ]
    EQ-5D: participant rated questionnaire to assess generic health status in two parts: single utility score and visual analog scale. The VAS component rated the current health state on a scale ranging from 0 (worst imaginable health state) to 100 (best imaginable health state); higher scores indicating a better health state.

  • Work Productivity and Activity Impairment- Specific Health Version (WPAI-SH): Percent of Work Time Missed [ Time Frame: Baseline (Day 1) ]
    The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asked about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Percentage of work time missed of participants were recorded and reported.

  • Work Productivity and Activity Impairment- Specific Health Version: Percent Impairment While Working [ Time Frame: Baseline (Day 1) ]
    The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asks about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Component scores included percent work time missed due to the health problem; percent impairment while working due to problem; percent overall work impairment due to problem; and percent activity impairment due to problem. The computed percentage range for each sub-scale was from 0-100, where higher numbers indicating greater impairment and less productivity.

  • Work Productivity and Activity Impairment- Specific Health Version: Percent Overall Work Impairment [ Time Frame: Baseline (Day 1) ]
    The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asked about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Component scores included percent work time missed due to the health problem; percent impairment while working due to problem; percent overall work impairment due to problem; and percent activity impairment due to problem. The computed percentage range for each sub-scale was from 0-100, where higher numbers indicating greater impairment and less productivity.

  • Work Productivity and Activity Impairment- Specific Health Version: Percent Activity Impairment [ Time Frame: Baseline (Day 1) ]
    The WPAI assesses work productivity and impairment. It was a 6-item questionnaire used to assess the degree to which a specified health problem affected work productivity and regular activities over the past 7 days prior to baseline visit. The questionnaire asks about current employment status, hours worked, hours missed from work and degree to which a specified health problem (ATTR) or caregiving affected work productivity and regular activities. Component scores included percent work time missed due to the health problem; percent impairment while working due to problem; percent overall work impairment due to problem; and percent activity impairment due to problem. The computed percentage range for each sub-scale was from 0-100, where higher numbers indicating greater impairment and less productivity.

  • Healthcare Resource Use Survey: Number of Outpatient Visits to Healthcare Providers [ Time Frame: Baseline (Day 1) ]
    Healthcare resources use survey of participants diagnosed with ATTR and caregivers was assessed by questions concerning a variety of different types of treatment and resources including outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (for example, costs of travel to receive care).

  • Healthcare Resource Use Survey: Number of Hospitalizations [ Time Frame: Baseline (Day 1) ]
    Healthcare resources use survey of participants diagnosed with ATTR and caregivers was assessed by questions concerning a variety of different types of treatment and resources including outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (for example, costs of travel to receive care).

  • Healthcare Resource Use Survey: Number of Emergency Care Visits [ Time Frame: Baseline (Day 1) ]
    Healthcare resources use survey of participants diagnosed with ATTR and caregivers was assessed by questions concerning a variety of different types of treatment and resources including outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (for example, costs of travel to receive care).

  • Healthcare and Resource Use Survey: Symptomatic Treatment of Participants [ Time Frame: Baseline (Day 1) ]
    Healthcare resources use survey of participants diagnosed with ATTR was assessed by questions concerning a variety of treatments and resources included outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs. Number of participants (diagnosed with ATTR) who visited non-medical practitioners (nutrition consultant/dietician, chiropractor, acupuncturist, massage therapist, occupational therapist or other than these) for symptomatic treatments were reported.

  • Healthcare Resource Use Survey: Number of Symptomatic Treatment Visits [ Time Frame: Baseline (Day 1) ]
    Healthcare resources use survey of participants diagnosed with ATTR was assessed by questions concerning a variety of treatments and resources included outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs. Number of visits of participants (diagnosed with ATTR) who visited non-medical practitioners (nutrition consultant/dietician, chiropractor, acupuncturist, massage therapist, occupational therapist or other than these) for symptomatic treatments were reported.

  • Healthcare Resource Use Survey: Out-of-Pocket Costs [ Time Frame: Baseline (Day 1) ]
    Healthcare resources use survey of participants diagnosed with ATTR was assessed by questions concerning a variety of treatments and resources included outpatient visits to healthcare providers, hospitalizations, emergency/urgent care visits, symptomatic treatments, and out-of-pocket costs (expenditure on nutritional supplements, non-prescription medications and travel to receive medical care).

  • Participants Pain Score [ Time Frame: Baseline (Day 1) ]
    Participants diagnosed with ATTR rated their pain due to the health condition based on 3 items: pain right now, average pain in the past week, and worst pain in the past week prior to baseline visit. All 3 items were rated on an 11-point numeric rating scale ranging from 0=none to 10=severe pain, where higher scores indicated severe pain.

  • Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) Total Quality of Life (TQOL): Total Scores [ Time Frame: Baseline (Day 1) ]
    Norfolk QOL-DN: 35-item participant-rated questionnaire used to assess impact of neuropathy on the quality of life of participants diagnosed with ATTR. Scoring was based on 35 questions that yield a TQOL as well as 5 subscale scores: activities of daily living, large fiber neuropathy/physical functioning, small fiber neuropathy, autonomic neuropathy, and symptoms. TQOL= sum of all the items, total possible score range= -2 to 138, where higher score=worse quality of life. This outcome measure was planned to be analyzed only for the reporting arm of participants diagnosed with ATTR.

  • Norfolk Quality of Life-Diabetic Neuropathy Total Quality of Life: Subscale Scores [ Time Frame: Baseline (Day 1) ]
    Norfolk QOL-DN: 35-item participant-rated questionnaire used to assess impact of neuropathy on the quality of life of participants diagnosed with ATTR. It was summarized in 5 domains: (1) Activities of daily living (score ranges from 0 to 20, where higher score=worse quality of life); (2) Large fiber neuropathy/physical functioning (score ranges from -2 to 58, where higher score=worse condition); (3) Small fiber neuropathy (score ranges from 0 to 16, where higher score=worse condition); (4) Autonomic neuropathy (score ranges from 0 to 12, where higher score=worse condition) and (5) Symptoms (score ranges from 0 to 32, where higher score=less symptoms of disease). Total possible score range= -2 to 138, where higher score=worse quality of life. This outcome measure was analyzed only for the participants diagnosed with ATTR.

  • Kansas City Cardiomyopathy Questionnaire (KCCQ) Scores [ Time Frame: Baseline (Day 1) ]
    KCCQ was a 23-item participant-completed questionnaire that assessed health status and health-related quality of life (HRQoL) in participants with heart failure. It was quantified in to following 10 summary scores: physical limitation, symptom frequency, symptom severity, and symptom stability, total symptoms, quality of life, social interference, self-efficacy, overall summary and clinical summary. Each summary score was scaled to range from 0 (minimum) to 100 (maximum), with higher scores representing greater disability. Total score ranged from 0 to 100, where higher scores indicated better functioning, fewer symptoms, and better disease specific quality of life.

  • Zarit Burden Interview (ZBI): Total Scores [ Time Frame: Baseline (Day 1) ]
    ZBI was a 22-item questionnaire designed to evaluate five broad aspects of caregiver burden in terms of personal and role strain associated with caregiving. Five broad aspects were: burden in the relationship, emotional well-being, social and family life, finances, loss of control over one's life. Each item rated on a 5 point scale anchored at 0 for "never" and 4 for "nearly always." Total score ranges from 0-88 with higher scores indicating increased burden of care.

  • Zarit Burden Interview: Subscale Scores [ Time Frame: Baseline (Day 1) ]
    A questionnaire designed to evaluate aspects of caregiver burden in terms of personal and role strain associated with caregiving. Total score of ZBI scale ranges from 0-88 with higher scores indicating increased burden of care. Five subscale scores were also calculated: (1) Burden in the relationship (consist of 6-items, ranging from 0 to 24 where higher scores indicating increased burden in relationship); (2) Emotional well-being (consisting of 7-items, ranging from 0 to 28 where higher scores indicating worse condition; (3) Social and family life (consisting of 4-items, ranging from 0 to 16 where higher scores indicating worse life condition); (4) Finances (consisting of a single item, scored from 0 to 4 where higher scores indicating worse financial condition); and (5) Loss of control over one's life (consisting of 4-items, ranging from 0 to 16 where higher scores indicating worse control over life).

  • Caregiver Burden Items Assessment: Number of Hours Per Week Spent in Care of the Participants With ATTR [ Time Frame: Baseline (Day 1) ]
    Caregivers completed a series of questions related to the number of hours per week spent on providing care and support to the participants diagnosed with ATTR.

  • Caregiver Burden Items Assessment: Work Time Lost [ Time Frame: Baseline (Day 1) ]
    Caregivers completed a series of questions related to the loss in their working time while providing care and support to the participants diagnosed with ATTR.

  • Caregiver Burden Items Assessment: Total Cost [ Time Frame: Baseline (Day 1) ]
    Caregivers completed a series of questions related to the total cost spent on providing healthcare support to participants diagnosed with ATTR.


Enrollment: 1
Actual Study Start Date: April 18, 2012
Study Completion Date: July 18, 2016
Primary Completion Date: July 27, 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Patients
Patients with TTR-FAP or TTR-CM. No drug will be administered; this is a non-interventional observational study.
Other: No drug
No drug.
Caregivers
Caregivers who are taking care of patients with TTR-FAP or TTR-CM. No drug will be administered; this is a non-interventional observational study.
Other: No drug
No drug.

Detailed Description:
Convenience sample of patients and caregivers recruited through patient advocacy groups. Convenience sample.
  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults (ages 18-85 years inclusive) diagnosed with TTR-FAP or TTR-CM and experiencing symptoms or currently providing care for a patient with TTR-FAP or TTR-CM
Criteria

Inclusion Criteria:

  • Adults (ages 18-85 years inclusive) diagnosed with TTR-FAP or TTR-CM and experiencing symptoms or currently providing care for a patient with TTR-FAP or TTR-FAP

Exclusion Criteria:

  • Caregivers who formally care for a TTR-FAP or TTR-CM patient as part of their job description and receive payment for their services.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01604122


Sponsors and Collaborators
Pfizer
Investigators
Study Director: Pfizer CT.gov Call Center Pfizer
  More Information

Responsible Party: Pfizer
ClinicalTrials.gov Identifier: NCT01604122     History of Changes
Other Study ID Numbers: B3461036
First Submitted: May 21, 2012
First Posted: May 23, 2012
Results First Submitted: July 14, 2016
Results First Posted: April 12, 2017
Last Update Posted: April 12, 2017
Last Verified: March 2017

Keywords provided by Pfizer:
Survey
burden of illness
caregivers
TTR-FAP
TTR-CM
familial amyloid polyneuropathy
observational
transthyretin familial amyloidosis

Additional relevant MeSH terms:
Cardiomyopathies
Amyloidosis
Polyneuropathies
Amyloidosis, Familial
Amyloid Neuropathies
Heart Diseases
Cardiovascular Diseases
Proteostasis Deficiencies
Metabolic Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn