SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT01282151 (3) NCT03058094 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00834665 (2) NCT00969137 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT01604122

Developed by Shray Alag, 2020.
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:Polyneuropathies Amyloid Neuropathies Cardiomyopathies Amyloidosis, Familial Amyloidosis
HPO:Amyloidosis Cardiomyopathy Motor polyneuropathy Polyneuropathy

2 Interventions

Name: No drug

Description: No drug.
Type: Other
Group Labels: 1

Patients

Name: No drug

Description: No drug.
Type: Other
Group Labels: 1

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:
SNP 0
HP:0001638: Cardiomyopathy
Genes 744
RAB3GAP2 LMNA ND4 LAMA4 TRNT NDUFA10 TRNL1 TNNT2 MMUT PEX5 NDUFS6 PEX11B COL7A1 LDB3 RAF1 MYBPC3 PPCS LAMA4 GNPTAB MYO18B LIMK1 GSN ERCC8 POMT1 COL7A1 PPARG PDGFRA AGK NDUFA2 HBB HADHA COA5 GATA4 LAMA3 FANCI GMPPB TNNI3 MYH7 TARS1 CAV3 FOXRED1 TTR EYA4 MYL3 HJV ELAC2 TMEM43 MAP3K20 SYNE2 RIT1 TPM2 MTO1 FBXL4 TMEM43 ATP5F1D SLX4 VHL JUP POMK TNNT2 ACTA1 RYR2 GPC3 KCNH1 PSEN1 TCAP CDH23 EMD DSP ELN WARS2 KLF1 GTF2E2 TNNT2 NF1 LDB3 TRNL1 RAD51 RYR1 TRNT1 VPS33A ERCC4 POLG LMNA SLC25A4 ABCC9 ACTN2 FHL1 LMNA COX2 SLC25A20 TXNRD2 SDHA TNNI3 GTF2I CRYAB ATP6 FLNC SCN5A FHL1 GLB1 FANCL NDUFA1 NDUFA11 LMNA CAVIN1 PLN AGL NDUFAF4 ACAD8 NAGLU GUSB DLD ATP6 AIP TWNK NAGA PET100 RNU4ATAC TPM3 GTPBP3 SLC25A4 FKRP XYLT2 FHL1 EPG5 BRAF PEX2 DSG2 PLN MAP2K1 HJV BRAF TRNH NEB HADHB MRAP POMGNT1 HGSNAT VPS33A SCO1 FKRP IDUA TPM2 TTR NDUFV2 EPG5 TSFM DSP MIPEP GLA BRAF POMT1 FANCE SDHD CSRP3 GPC4 PRKAG2 ND6 TMEM70 UQCRFS1 NDUFV1 AIP CPT1A ALMS1 PYGM COA6 ACTA1 RERE ACTA1 BAG3 PRDM16 RBCK1 FANCM NF1 TWNK IDUA NDUFAF3 TNNC1 NDUFS4 COX14 ACAD8 TAF1A NBAS SLC2A10 UBR1 MYOT ABCC6 NDUFA13 LIPT1 SLC19A2 PPP1CB ATAD3A TRNS2 MYOT FTO TRNS1 PRKAG2 OPA1 NEU1 COQ2 SGCB MAP2K1 SLC25A3 SDHA CAV1 IFIH1 PLN MRPL44 ANKRD11 SURF1 MEN1 GATAD1 STAR ND3 TACO1 ND1 GNE SCN5A NEB GBE1 ATP5F1E LMNA LDB3 GNPTAB HBB MYBPC3 FANCG FXN WFS1 ND4 TMEM126B ACADS ND5 RAF1 NEXN DES NDUFAF1 MYOCD ATPAF2 PCCB MYPN KIF20A EYA4 COX6B1 RAF1 COX1 LMNA PCCA SDHA TPI1 LAMA2 MYH7 TRNV LMNA PEX14 GMPPB NPPA NDUFA6 PKP2 VCP RNASEH2C ALMS1 VAC14 TIMMDC1 NDUFA10 HFE BCS1L BAG3 TRNK SPTA1 SHOC2 NDUFS7 ACTC1 TWNK GATA5 LMNA TOP3A LMNA SELENON RAF1 MYL2 TPM1 PALB2 SURF1 TPM1 FHL2 MYH7 TPM2 PSEN2 SGCD TAZ SYNE1 WARS2 TNNI3 MIB1 MTFMT SGCD TERT GTPBP3 NDUFS3 HMGCL NDUFA11 TRIP4 MYSM1 KCNJ8 GPC3 HSD17B10 KCNQ1 TTN NDUFAF3 PEX16 RNASEH2B TRNF FKTN ANK1 NDUFB11 ACTN2 NDUFA12 NDUFA9 CPT2 TGFB3 ND2 FANCB ANKS6 BAG3 BRAF XK HADHA FLAD1 SGCB IDH2 MYH7 FKTN NDUFA4 TMEM126A BBS2 TCAP MYH6 FIG4 FHL1 NNT POMT1 ACADVL DMD NUBPL POLG SAMHD1 RBM20 ACTC1 NDUFB11 ATAD3A CDKN1C ERBB3 SDHA DSC2 MYPN MYH7 NDUFV2 NUP107 JUP GPC4 EPB42 GATAD1 SHOC2 ADCY5 MYOZ2 BOLA3 DSG2 SLC25A4 C1QBP SELENON COX15 CLPB NDUFA2 PEX7 COX7B PSEN2 SLC22A5 ND3 FKTN MC2R AGPAT2 TRNN KRAS MRPL3 TNNT2 FOS KRAS PCCA PHYH HFE ANO5 PEX7 ABCC9 USP9X HAND2 TRNK RBM20 NDUFB3 COA3 DMD NDUFAF6 USP8 PRKAG2 CHKB DPM3 PARS2 TNNI3 HLA-B BSCL2 HAMP NDUFV1 PNPLA2 SCO2 JUP NDUFS1 ATP5MD NDUFS7 IDUA RAD51C TRNL1 LIMS2 MLX DES ABCC6 CLIP2 PIGT PIGT RNASEH1 FLNC ALG1 DSP NDUFS2 AHCY FANCF RAF1 ADCY5 NRAS POLG COX7B VCL POMT2 NDUFS8 TTN TNNC1 FXN BAZ1B HNRNPA1 SLC25A20 LAMC2 SDHD NDUFS2 COX20 D2HGDH SLC25A4 ADAR MMUT KLHL41 FANCD2 PYGL HCCS JPH2 RMND1 AGK GMPPB TPM3 ACTC1 TRNQ RRM2B LIAS RFC2 ALG1 HPS1 PTPN11 SPEG PMM2 XRCC2 TMEM70 ND1 SGSH FASTKD2 DCAF8 TANGO2 TNNI3 PSEN1 MYBPC3 DOLK NDUFS3 MYH6 TRNS1 SPTB MLYCD NDUFAF2 TNNI3K MYPN HRAS MRPS22 VCL ANKRD1 CPT2 TKFC BRIP1 GYS1 MYL2 ERCC3 PTPN11 PPCS PEX19 SCO2 TTPA PDHA1 TAPT1 NEXN INSR POMT1 MYH7 MYH6 MAP2K2 ABHD5 LDB3 DES TK2 FLNC FAH NDUFS8 MAP2K1 MYPN NDUFAF4 HACD1 FOXRED1 MPLKIP AHCY ATP6V1A SUFU COX3 MGME1 BMP2 NDUFAF5 TNNI3 HADHB QRSL1 SLC4A1 NDUFB10 ND1 ECHS1 PEX13 NDUFS4 NAXD NDUFS4 ACADL COX8A NAGA ACTA1 GABRD DNAJC19 POLG2 TAZ ACAD9 BRCA1 SLC25A3 NDUFB11 KCNAB2 AIP NDUFB8 SDHA FANCC DPM3 FKTN WFS1 KRAS COA8 ND5 PEX1 PEX12 FOXRED1 HRAS SDHAF1 DES UBE2T VCL CSRP3 BRCC3 HADH ARSB ERCC6 HCCS NDUFB11 SLC30A10 FIG4 LMNA DMD COX10 MGME1 CPT2 TMPO TKFC TWNK CRYAB LMNA SKI PRDM16 NDUFS1 SOS1 NUP107 TNNT2 PEX3 MAP2K2 NDUFS2 SLC19A3 ACAD9 RNASEH2A NDUFV2 KBTBD13 ENPP1 GTF2IRD1 PPA2 DOLK LAMB3 KCNQ1OT1 NDUFAF8 CSRP3 HADHA ERCC2 NDUFS8 DTNA COG7 MRPS14 XYLT1 CAP2 AGPAT2 DSP SLC40A1 FKRP TGFB1 PTPN11 TTN HADH POMT2 SDHAF1 NDUFS2 LAMP2 VPS13A NDUFAF5 HAMP XRCC4 FANCA MYH7 PMM2 MAD2L2 ATAD3A COX15 TACO1 CLN3 PET100 TMEM126B RFWD3 POLG MYH6 DSG2 PEX26 ABCC9 TRNW PEX6 TRNW DMD HNRNPA2B1 MYPN TREX1 LTBP4 TRNK YARS2 PNPLA2 ITGA7 AARS2 BRCA2 ND6 CENPE PEX7 DMD CRYAB INSR TNNC1 TPM1 ND2 POLG IL12B MMP1 HADHA PCCB NDUFAF2 TXNRD2 LAMP2 NDUFAF1 SGCA MICOS13 PHYH NEXN NEK8 BSCL2 CISD2 RRM2B RNF113A NEBL IGF2 MEFV H19-ICR TBL2 KAT6B SMC1A NDUFB9 JUP SARDH GSN TFR2 CPT2 DMPK PEX10 DLD SYNE2 TPM3 GPR101 GATC GTF2H5 COA8 DNAJC19 DSP RMRP MYLK2 ACADVL PGM1 TTN COQ4 PRDM16 PPARG RNU4ATAC CRYAB ITPA GJA5 GNS TAZ GYG1 TRNE SDHB
Protein Mutations 0
SNP 0