SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01604122

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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

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.

NCT01604122 Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) Transthyretin Cardiomyopathy (TTR-CM) Familial Amyloid Cardiomyopathy Senile Systemic Amyloidosis (SSA)
MeSH: Cardiomyopathies Amyloidosis Polyneuropathies Amyloidosis, Familial Amyloid Neuropathies
HPO: Amyloidosis Cardiomyopathy Motor polyneuropathy Polyneuropathy

2 Interventions

Name: No drug

Description: No drug.

Type: Other

Patients

Name: No drug

Description: No drug.

Type: Other

Caregivers


Primary Outcomes

Description: 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.

Measure: Demographical Characteristics of Participants

Time: Baseline (Day 1)

Description: 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.

Measure: Disease Characteristics of Participants: Disease Duration

Time: Baseline (Day 1)

Description: 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.

Measure: Disease Characteristics of Participants: Mutation Type

Time: Baseline (Day 1)

Description: 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.

Measure: Disease Characteristics of Participants: Liver Transplantation Status

Time: Baseline (Day 1)

Description: 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.

Measure: Disease Characteristics of Participants: Number of Participants With Family History of ATTR

Time: Baseline (Day 1)

Description: 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.

Measure: Disease Characteristics of Participants: Mobility Status

Time: Baseline (Day 1)

Description: 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.

Measure: 12-Item Short-Form Health Survey (SF-12) Scores

Time: Baseline (Day 1)

Description: 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.

Measure: Hospital Anxiety and Depression Scale (HADS): Depression and Anxiety Subscale Scores

Time: Baseline (Day 1)

Description: 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.

Measure: Euro Quality of Life (EQ-5D-3L)- Health State Profile Utility Score

Time: Baseline (Day 1)

Description: 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.

Measure: Euro Quality of Life (EQ-5D-3L)- Visual Analog Scale (VAS) Score

Time: Baseline (Day 1)

Description: 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.

Measure: Work Productivity and Activity Impairment- Specific Health Version (WPAI-SH): Percent of Work Time Missed

Time: Baseline (Day 1)

Description: 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.

Measure: Work Productivity and Activity Impairment- Specific Health Version: Percent Impairment While Working

Time: Baseline (Day 1)

Description: 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.

Measure: Work Productivity and Activity Impairment- Specific Health Version: Percent Overall Work Impairment

Time: Baseline (Day 1)

Description: 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.

Measure: Work Productivity and Activity Impairment- Specific Health Version: Percent Activity Impairment

Time: Baseline (Day 1)

Description: 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).

Measure: Healthcare Resource Use Survey: Number of Outpatient Visits to Healthcare Providers

Time: Baseline (Day 1)

Description: 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).

Measure: Healthcare Resource Use Survey: Number of Hospitalizations

Time: Baseline (Day 1)

Description: 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).

Measure: Healthcare Resource Use Survey: Number of Emergency Care Visits

Time: Baseline (Day 1)

Description: 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.

Measure: Healthcare and Resource Use Survey: Symptomatic Treatment of Participants

Time: Baseline (Day 1)

Description: 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.

Measure: Healthcare Resource Use Survey: Number of Symptomatic Treatment Visits

Time: Baseline (Day 1)

Description: 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).

Measure: Healthcare Resource Use Survey: Out-of-Pocket Costs

Time: Baseline (Day 1)

Description: 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.

Measure: Participants Pain Score

Time: Baseline (Day 1)

Description: 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.

Measure: Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) Total Quality of Life (TQOL): Total Scores

Time: Baseline (Day 1)

Description: 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.

Measure: Norfolk Quality of Life-Diabetic Neuropathy Total Quality of Life: Subscale Scores

Time: Baseline (Day 1)

Description: 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.

Measure: Kansas City Cardiomyopathy Questionnaire (KCCQ) Scores

Time: Baseline (Day 1)

Description: 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.

Measure: Zarit Burden Interview (ZBI): Total Scores

Time: Baseline (Day 1)

Description: 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).

Measure: Zarit Burden Interview: Subscale Scores

Time: Baseline (Day 1)

Description: 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.

Measure: Caregiver Burden Items Assessment: Number of Hours Per Week Spent in Care of the Participants With ATTR

Time: Baseline (Day 1)

Description: 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.

Measure: Caregiver Burden Items Assessment: Work Time Lost

Time: Baseline (Day 1)

Description: Caregivers completed a series of questions related to the total cost spent on providing healthcare support to participants diagnosed with ATTR.

Measure: Caregiver Burden Items Assessment: Total Cost

Time: Baseline (Day 1)

Time Perspective: Cross-Sectional

Other


There are 4 SNPs

SNPs


1 F64L

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. --- Val30Met --- --- Phe64Leu ---


2 S77Y

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. --- Val30Met --- --- Phe64Leu --- --- Ser77Tyr ---


3 T60A

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. --- Val30Met --- --- Phe64Leu --- --- Ser77Tyr --- --- Thr60Ala ---


4 V30M

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. --- Val30Met ---



HPO Nodes


HPO:
Amyloidosis
Genes 22
SLC7A7 PSEN2 FGA ITM2B LYZ TTR NLRP1 POLA1 APOA1 SAA1 MEFV PRNP NLRP3 IL31RA GSN B2M RET APOE OSMR TNFRSF1A APP CST3
Cardiomyopathy
Genes 431
TPM1 TPM2 TPM3 CDKN1C TACO1 HFE H19-ICR SDHAF1 TREX1 ERBB3 ERCC2 EYA4 ERCC3 BRIP1 ERCC4 ACADL HLA-B ACADS PDGFRA ACADVL MICOS13 PDHA1 DNAJC19 ENPP1 SPEG SMC1A ACTA1 MC2R PEX1 ACTC1 PEX6 PEX7 DPM3 PEX10 PEX12 PEX13 PEX14 ANO5 HMGCL KLHL41 ACTN2 CHKB ADAR TTN HNRNPA1 TTPA TTR TRIP4 HNRNPA2B1 ADCY5 WARS2 ELAC2 PGM1 RYR1 RYR2 RNU4ATAC FANCA FANCC FANCD2 FANCE SLC25A3 SLC2A10 FAH FANCB FANCF FANCG PHYH AARS2 FKTN CLN3 AGL RAB3GAP2 RNASEH2C HPS1 SCN5A MIPEP MIB1 COA5 AHCY GPC4 PEX16 HRAS SCO1 GTF2H5 PKP2 MMP1 MAD2L2 MTO1 FTO PRKAG2 FHL1 FHL2 POMK GMPPB PLN LTBP4 SLC30A10 D2HGDH SDHA SDHB VCL VCP SDHD PMM2 HJV POMT2 TMEM126A NDUFB11 COL7A1 FLNC FOXRED1 MYOT NDUFAF5 ANK1 NEBL TAPT1 SLC25A4 CLIP2 CISD2 RNASEH2A FKRP SGCA WFS1 SGCB SGCD ACAD9 SGSH FOS RRM2B POLG GNPTAB PEX3 NDUFAF3 BAG3 AGPAT2 COX6B1 DOLK SLC19A2 KCNAB2 COX7B COX8A COX10 POMGNT1 COX15 TWNK XK SAMHD1 FASTKD2 TMEM43 GATA5 POMT1 IDH2 TXNRD2 FXN PPARG XRCC2 CPT1A XRCC4 CPT2 FANCM GTF2IRD1 IDUA SKI TCAP SLC40A1 COA8 ABCC6 RBM20 PEX26 RBCK1 NDUFA11 SLC4A1 EPG5 PPP1CB MTFMT LIMS2 CRYAB NBAS LIPT1 VAC14 PIGT NDUFAF4 IGF2 ACAD8 ARSB ATP6 COX1 COX2 UBE2T COX3 KLF1 NEK8 FLAD1 ANKRD1 ND1 ND2 SLC22A5 ND3 ND4 NAXD MRPS14 PPA2 ND5 ND6 ANKRD11 MPLKIP GATAD1 AGK KBTBD13 TRNE TRNF NDUFAF6 CAVIN1 TRNH TRNK TRNL1 HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV TRNW SUFU MAP2K1 MAP2K2 PRDM16 NEXN SLX4 MMUT H19 MGME1 ATPAF2 SOS1 MYBPC3 ATP5F1D ATP5F1E GABRD COX20 UBR1 IL12B ATP6V1A MYH6 MYH7 ANKS6 NDUFS7 MYL2 MYL3 DCAF8 PSEN1 PSEN2 PET100 SPTA1 SPTB TMEM126B MRPL44 RNF113A VPS33A NAGA NAGLU MAP3K20 GATA4 MYOZ2 BBS2 GBE1 CDH23 NDUFA2 NDUFA4 PEX11B GPR101 ITGA7 NEB NDUFA9 NDUFA10 COQ2 BCS1L NDUFB8 NDUFS1 NDUFS2 MRPS22 NDUFS3 STAR NDUFV1 NDUFS4 ITPA NDUFS8 NDUFV2 FBXL4 IFIH1 DES GJA5 JUP COA6 PTPN11 NEU1 NF1 GLA GPC3 NDUFA12 BRCA1 GLB1 ALMS1 BRAF BRCA2 CLPB FIG4 KCNH1 SURF1 KCNJ8 MYPN TMEM70 SYNE2 VPS13A PEX19 C1QBP PEX2 PEX5 KCNQ1 DLD DMD SARDH MYO18B RMND1 GTPBP3 KCNQ1OT1 GNS ALG1 TAZ RAD51 RAD51C RNASEH2B KRAS RAF1 LIAS SCO2 NPPA PNPLA2 SLC25A20 NRAS DSC2 MLX NUP107 GNE DSG2 NDUFAF2 DSP COG7 DTNA SYNE1 TAF1A HGSNAT SLC19A3 LAMA2 LAMA3 LAMA4 JPH2 BAZ1B LAMB3 ABCC9 LAMC2 LAMP2 FANCL AIP CAV1 RFC2 ECHS1 PPCS SHOC2 SELENON BOLA3 OPA1 CSRP3 PALB2 TSFM GSN RFWD3 MLYCD YARS2 TFR2 RIT1 TGFB1 TGFB3 NDUFA13 RMRP USP8 TNNI3K LIMK1 GTF2E2 LDB3 TRNT1 GTF2I ABHD5 NDUFAF1 LMNA ATAD3A TK2 COQ4 GUSB FANCI GYG1 GYS1 MRAP TMPO BSCL2 HSD17B10 ELN HADHA MRPL3 HADHB HADH EMD TANGO2 TNNC1 POLG2 TNNI3 KAT6B HBB TNNT2 PCCA PCCB NNT HCCS HACD1 TBL2 TOP3A EPB42 COX14 TPI1
Motor polyneuropathy
Genes 25
SLC5A7 SLC12A6 ALDH18A1 SCO2 TRPV4 GJC2 CHAT SPG11 BSCL2 HINT1 SELENOI SYT2 SNAP25 COL13A1 REEP1 ARL6IP1 TFG MYO9A AGRN SLC18A3 SLC25A1 GARS PPOX VAMP1 CTDP1
Polyneuropathy
Genes 52
SLC12A6 MYD88 ERCC8 SH3TC2 DMXL2 LDB3 RPIA SETX ERCC6 MYOT ATP7B ATP6 PSAP DHH COX3 ARL6IP1 CYTB GCLC AIFM1 PDK3 SEPTIN9 DGUOK PDYN C12ORF65 ND1 ND2 ND4 ND4L ND5 FAM126A ND6 CD59 PEX12 CYP7B1 ALAD FUCA1 ABCD1 NGLY1 PEX11B GRM1 SLC25A19 ABHD12 TTR PIK3R5 NAGS COQ7 EDNRB GSN TBC1D24 PMM2 SNAP29 PRPS1