Page last updated: 2024-11-05

thalidomide and Genetic Predisposition

thalidomide has been researched along with Genetic Predisposition in 22 studies

Thalidomide: A piperidinyl isoindole originally introduced as a non-barbiturate hypnotic, but withdrawn from the market due to teratogenic effects. It has been reintroduced and used for a number of immunological and inflammatory disorders. Thalidomide displays immunosuppressive and anti-angiogenic activity. It inhibits release of TUMOR NECROSIS FACTOR-ALPHA from monocytes, and modulates other cytokine action.
thalidomide : A racemate comprising equimolar amounts of R- and S-thalidomide.
2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione : A dicarboximide that is isoindole-1,3(2H)-dione in which the hydrogen attached to the nitrogen is substituted by a 2,6-dioxopiperidin-3-yl group.

Research Excerpts

ExcerptRelevanceReference
"Thalidomide is commonly used in treatment of multiple myeloma (MM)."7.91Polymorphisms in the promotor region of the CRBN gene as a predictive factor for peripheral neuropathy in the course of thalidomide-based chemotherapy in multiple myeloma patients. ( Chocholska, S; Homa-Mlak, I; Hus, M; Jankowska-Łęcka, O; Mazurek, M; Małecka-Massalska, T; Mielnik, M; Mlak, R; Szczyrek, M; Szudy-Szczyrek, A, 2019)
"Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy."7.91The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. ( Fraga, LR; Gomes, JDA; Kowalski, TW; Macedo, GS; Sanseverino, MTV; Schuler-Faccini, L; Vianna, FSL, 2019)
"The role of TNF-α promoter polymorphisms in the development of multiple myeloma (MM) were tested in 210 patients and 218 healthy individuals and their impact on the clinical outcome were evaluated in 98 patients treated with thalidomide and dexamethasone (Thal+Dex) regimen."7.76Role of the TNF-α promoter polymorphisms for development of multiple myeloma and clinical outcome in thalidomide plus dexamethasone. ( Chen, B; Du, J; Fu, W; Hou, J; Jiang, H; Yuan, Z; Zhang, C, 2010)
"We analyzed DNA from 1,495 patients with multiple myeloma."5.37Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma. ( Child, JA; Corthals, SL; Davies, FE; Dickens, NJ; Durie, BG; Goldschmidt, H; Gregory, WM; Johnson, DC; Lokhorst, HM; Morgan, GJ; Ross, FM; Sonneveld, P; Van Ness, B; Walker, BA, 2011)
"Thalidomide is commonly used in treatment of multiple myeloma (MM)."3.91Polymorphisms in the promotor region of the CRBN gene as a predictive factor for peripheral neuropathy in the course of thalidomide-based chemotherapy in multiple myeloma patients. ( Chocholska, S; Homa-Mlak, I; Hus, M; Jankowska-Łęcka, O; Mazurek, M; Małecka-Massalska, T; Mielnik, M; Mlak, R; Szczyrek, M; Szudy-Szczyrek, A, 2019)
"Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy."3.91The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. ( Fraga, LR; Gomes, JDA; Kowalski, TW; Macedo, GS; Sanseverino, MTV; Schuler-Faccini, L; Vianna, FSL, 2019)
" Established risk factors in IBD colitis inpatients with TE included: indwelling catheter (4/10), first-degree family member with TE (2/10), hereditary thrombophilia (3/10), smoking (1/10), oral contraceptive (1/5 females), and thalidomide (1/10)."3.79Risk factors, morbidity, and treatment of thrombosis in children and young adults with active inflammatory bowel disease. ( Atkinson, BJ; Bousvaros, A; Harney, KM; Levine, AE; Lightdale, JR; Trenor, CC; Verhave, M; Zitomersky, NL, 2013)
"The role of TNF-α promoter polymorphisms in the development of multiple myeloma (MM) were tested in 210 patients and 218 healthy individuals and their impact on the clinical outcome were evaluated in 98 patients treated with thalidomide and dexamethasone (Thal+Dex) regimen."3.76Role of the TNF-α promoter polymorphisms for development of multiple myeloma and clinical outcome in thalidomide plus dexamethasone. ( Chen, B; Du, J; Fu, W; Hou, J; Jiang, H; Yuan, Z; Zhang, C, 2010)
"The hypothesis that brain stem injury plays a role in the autism spectrum disorders was suggested by evidence that exposure to thalidomide during the earliest stages of brain development increases the risk of autism spectrum disorders."3.71Converging evidence for brain stem injury in autism. ( Rodier, PM, 2002)
"Although peripheral neuropathies in children are often of genetic origin, acquired causes should be carefully looked for and ruled out also in the pediatric age."2.58Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association. ( De' Angelis, GL; Di Mario, F; Fusco, C; Gaiani, F; Leandro, G; Pisani, F; Spagnoli, C, 2018)
"Multiple myeloma is characterised by clonal proliferation of malignant plasma cells, and mounting evidence indicates that the bone marrow microenvironment of tumour cells has a pivotal role in myeloma pathogenesis."2.45Multiple myeloma. ( Anderson, KC; Breitkreutz, I; Podar, K; Raab, MS; Richardson, PG, 2009)
"Crohn's disease is a chronic inflammatory disease, which may involve any part of the gastrointestinal tract, including the oral cavity."2.41[Oral aspects of Crohn's disease]. ( Brand, HS; Scheper, HJ, 2000)
"Thalidomide is a drug responsible to a spectrum of congenital anomalies known as Thalidomide Embryopathy (TE), which includes mainly limb and heart defects."1.72Genetic evaluation of HAND2 gene and its effects on thalidomide embryopathy. ( Bremm, JM; do Amaral Gomes, J; Fraga, LR; Kowalski, TW; Rengel, BD; Schüler-Faccini, L; Vianna, FSL, 2022)
"Thalidomide is a drug used worldwide for several indications, but the molecular mechanisms of its teratogenic property are not fully understood."1.48Genetic susceptibility to thalidomide embryopathy in humans: Study of candidate development genes. ( Fraga, LR; Gomes, JDA; Kowalski, TW; Sanseverino, MTV; Schuler-Faccini, L; Tovo-Rodrigues, L; Vianna, FSL, 2018)
"Lenalidomide has significant antimyeloma activity but it is associated with a significant risk of venous thromboembolism (VTE)."1.39Clinical and genetic factors associated with venous thromboembolism in myeloma patients treated with lenalidomide-based regimens. ( Bagratuni, T; Dimopoulos, MA; Eleutherakis-Papaiakovou, E; Gavriatopoulou, M; Kanelias, N; Kastritis, E; Kostouros, E; Politou, M; Roussou, M; Terpos, E, 2013)
"We analyzed DNA from 1,495 patients with multiple myeloma."1.37Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma. ( Child, JA; Corthals, SL; Davies, FE; Dickens, NJ; Durie, BG; Goldschmidt, H; Gregory, WM; Johnson, DC; Lokhorst, HM; Morgan, GJ; Ross, FM; Sonneveld, P; Van Ness, B; Walker, BA, 2011)
"The GENetic DEterminants of Restenosis (GENDER) project included 3104 patients who underwent a successful PCI."1.33Tumor necrosis factor-alpha plays an important role in restenosis development. ( 't Hart, LM; Agema, WR; Boesten, LS; de Maat, MP; de Vries, MR; de Winter, RJ; Doevendans, PA; Frants, RR; Havekes, LM; Jukema, JW; Monraats, PS; Pires, NM; Quax, PH; Schepers, A; Tio, RA; van der Laarse, A; van der Wall, EE; van Vlijmen, BJ; Waltenberger, J; Zwinderman, AH, 2005)
"Actinic prurigo is a specific familial photodermatosis of uncertain pathogenesis."1.31Effectors of inflammation in actinic prurigo. ( Arrese, JE; Cortés-Franco, R; Dominguez-Soto, L; Guevara, E; Hojyo-Tomoka, MT; Piérard, GE; Vega-Memije, E, 2001)

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's7 (31.82)29.6817
2010's12 (54.55)24.3611
2020's3 (13.64)2.80

Authors

AuthorsStudies
Rengel, BD1
Kowalski, TW5
Bremm, JM1
do Amaral Gomes, J1
Schüler-Faccini, L5
Vianna, FSL4
Fraga, LR5
Gomes, JDA3
Garcia, GBC1
Paixao-Cortes, VR1
Recamonde-Mendoza, M1
Sanseverino, MTV3
Genova, E1
Cavion, F1
Lucafò, M1
Pelin, M1
Lanzi, G1
Masneri, S1
Ferraro, RM1
Fazzi, EM1
Orcesi, S1
Decorti, G1
Tommasini, A1
Giliani, S1
Stocco, G1
Tovo-Rodrigues, L2
Spagnoli, C1
Pisani, F1
Di Mario, F1
Leandro, G1
Gaiani, F1
De' Angelis, GL1
Fusco, C1
Mlak, R1
Szudy-Szczyrek, A1
Mazurek, M1
Szczyrek, M1
Homa-Mlak, I1
Mielnik, M1
Chocholska, S1
Jankowska-Łęcka, O1
Małecka-Massalska, T1
Hus, M1
Macedo, GS1
Zitomersky, NL1
Levine, AE1
Atkinson, BJ1
Harney, KM1
Verhave, M1
Bousvaros, A1
Lightdale, JR1
Trenor, CC1
Bagratuni, T1
Kastritis, E1
Politou, M1
Roussou, M1
Kostouros, E1
Gavriatopoulou, M1
Eleutherakis-Papaiakovou, E1
Kanelias, N1
Terpos, E1
Dimopoulos, MA1
Sanseverino, MT1
Hutz, MH1
Vianna, FS1
Han, M1
Murugesan, A1
Bahlis, NJ1
Song, K1
White, D1
Chen, C1
Seftel, MD1
Howsen-Jan, K1
Reece, D1
Stewart, K1
Xie, Y1
Hay, AE1
Shepherd, L1
Djurfeldt, M1
Zhu, L1
Meyer, RM1
Chen, BE1
Reiman, T1
Kasamatsu, T1
Saitoh, T1
Ino, R1
Gotoh, N1
Mitsui, T1
Shimizu, H1
Matsumoto, M1
Sawamura, M1
Yokohama, A1
Handa, H1
Tsukamoto, N1
Murakami, H1
Butrym, A1
Łacina, P1
Rybka, J1
Chaszczewska-Markowska, M1
Mazur, G1
Bogunia-Kubik, K1
Tewari, P1
Kenny, E1
Staines, A1
Chanock, S1
Browne, P1
Lawler, M1
Raab, MS1
Podar, K1
Breitkreutz, I1
Richardson, PG1
Anderson, KC1
Du, J1
Yuan, Z1
Zhang, C1
Fu, W1
Jiang, H1
Chen, B1
Hou, J1
Johnson, DC1
Corthals, SL1
Walker, BA1
Ross, FM1
Gregory, WM1
Dickens, NJ1
Lokhorst, HM1
Goldschmidt, H1
Davies, FE1
Durie, BG1
Van Ness, B1
Child, JA1
Sonneveld, P1
Morgan, GJ1
Rodier, PM1
Monraats, PS1
Pires, NM1
Schepers, A1
Agema, WR1
Boesten, LS1
de Vries, MR1
Zwinderman, AH1
de Maat, MP1
Doevendans, PA1
de Winter, RJ1
Tio, RA1
Waltenberger, J1
't Hart, LM1
Frants, RR1
Quax, PH1
van Vlijmen, BJ1
Havekes, LM1
van der Laarse, A1
van der Wall, EE1
Jukema, JW1
Arrese, JE1
Dominguez-Soto, L1
Hojyo-Tomoka, MT1
Vega-Memije, E1
Cortés-Franco, R1
Guevara, E1
Piérard, GE1
Scheper, HJ1
Brand, HS1
Finnell, RH1
Waes, JG1
Eudy, JD1
Rosenquist, TH1

Clinical Trials (2)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
A Phase II Trial of the Anti -PD-1 Monoclonal Antibody Pembrolizumab (MK-3475) + Lenalidomide + Dexamethasone as Post Autologous Transplant Consolidation in Patients With High-risk Multiple Myeloma[NCT02906332]Phase 212 participants (Actual)Interventional2016-12-12Terminated (stopped due to FDA Hold Due to Updated Risks)
Multicenter, Interventional, Single-arm, Phase IV Study Evaluating Tolerability of Eribulin and Its Relationship With a Set of Polymorphisms in an Unselected Population of Female Patients With Metastatic Breast Cancer[NCT02864030]Phase 4200 participants (Actual)Interventional2014-05-31Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

Evaluation of Stringent Complete Response, Complete Response, and Very Good Partial Response Rate (sCR + CR + VGPR Rate).

Assessed by the investigator per International Myeloma Working Group criteria(IMWG) uniform response criteria. Result reflects number of participants whose best overall response qualified as sCR, CR, or VGPR in 2 year follow up period. (NCT02906332)
Timeframe: Every 3 weeks (day 1 of every 21-day treatment cycle +/- 7 days) through 12 weeks.

InterventionParticipants (Count of Participants)
Pembrolizumab + Lenalidomide11

Number of Participants Serious Adverse Events

Safety will be assessed by quantifying the toxicities and grades experienced by subjects who have received pembrolizumab (MK-3475), lenalidomide and dexamethasone, including serious adverse events (SAEs). Result reflects count of participants who experienced an SAE. (NCT02906332)
Timeframe: Up to 3 years

InterventionParticipants (Count of Participants)
Pembrolizumab + Lenalidomide1

Number of Participants Who Progressed at 12 Months

Assessed at 12 months; Subjects without documented PD or death will be censored at the last disease assessment date. Those who died without documented PD will be censored at the time of death. Result reflects count of participants who had progressed at 12 months. (NCT02906332)
Timeframe: Time from Day 0 (transplant) and date of enrollment to study completion (through 12 weeks) by investigator assessment.

InterventionParticipants (Count of Participants)
Pembrolizumab + Lenalidomide10

Progression Free Survival (PFS)

PFS will be assessed from the date of ASCT, with day 0 defined as date of stem cell infusion (if tandem transplant the 2nd of 2 transplants will be used) until the date of progression, defined as the date at which the patient starts the next line of therapy or the date of death. (NCT02906332)
Timeframe: Up to 3 years

Interventionmonths (Median)
Pembrolizumab + Lenalidomide27.6

Reviews

4 reviews available for thalidomide and Genetic Predisposition

ArticleYear
Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.
    Acta bio-medica : Atenei Parmensis, 2018, 12-17, Volume: 89, Issue:9-S

    Topics: Antibodies, Monoclonal; Antirheumatic Agents; Campylobacter Infections; Celiac Disease; Child; Comor

2018
Multiple myeloma.
    Lancet (London, England), 2009, Jul-25, Volume: 374, Issue:9686

    Topics: Antineoplastic Agents; Boronic Acids; Bortezomib; Clinical Trials as Topic; Combined Modality Therap

2009
[Oral aspects of Crohn's disease].
    Nederlands tijdschrift voor tandheelkunde, 2000, Volume: 107, Issue:10

    Topics: Crohn Disease; Dental Caries; Genetic Predisposition to Disease; Humans; Immunosuppressive Agents; O

2000
Molecular basis of environmentally induced birth defects.
    Annual review of pharmacology and toxicology, 2002, Volume: 42

    Topics: Abnormalities, Drug-Induced; Animals; Embryonic and Fetal Development; Female; Gene Expression Regul

2002

Other Studies

18 other studies available for thalidomide and Genetic Predisposition

ArticleYear
Genetic evaluation of HAND2 gene and its effects on thalidomide embryopathy.
    Birth defects research, 2022, 12-01, Volume: 114, Issue:20

    Topics: Abnormalities, Multiple; Basic Helix-Loop-Helix Transcription Factors; Female; Fetal Diseases; Genet

2022
CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation.
    Scientific reports, 2020, 01-21, Volume: 10, Issue:1

    Topics: Adaptor Proteins, Signal Transducing; Adolescent; Adult; Child; Embryo, Mammalian; Embryonic Develop

2020
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients.
    Clinical pharmacology and therapeutics, 2020, Volume: 108, Issue:2

    Topics: Ataxia Telangiectasia; Autoimmune Diseases of the Nervous System; Biomarkers; Cell Line; Cell Prolif

2020
Genetic susceptibility to thalidomide embryopathy in humans: Study of candidate development genes.
    Birth defects research, 2018, 03-15, Volume: 110, Issue:5

    Topics: Abnormalities, Drug-Induced; Female; Genetic Predisposition to Disease; Genotype; Humans; Infant, Ne

2018
Polymorphisms in the promotor region of the CRBN gene as a predictive factor for peripheral neuropathy in the course of thalidomide-based chemotherapy in multiple myeloma patients.
    British journal of haematology, 2019, Volume: 186, Issue:5

    Topics: Adult; Aged; Aged, 80 and over; Female; Genetic Predisposition to Disease; Humans; Immunosuppressive

2019
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
    Scientific reports, 2019, 08-06, Volume: 9, Issue:1

    Topics: Abnormalities, Multiple; Acetyltransferases; Brazil; Cell Line; Chromosomal Proteins, Non-Histone; C

2019
Risk factors, morbidity, and treatment of thrombosis in children and young adults with active inflammatory bowel disease.
    Journal of pediatric gastroenterology and nutrition, 2013, Volume: 57, Issue:3

    Topics: Adolescent; Adult; Antibodies, Anticardiolipin; Anticoagulants; Catheterization; Catheters, Indwelli

2013
Clinical and genetic factors associated with venous thromboembolism in myeloma patients treated with lenalidomide-based regimens.
    American journal of hematology, 2013, Volume: 88, Issue:9

    Topics: Acenocoumarol; Age Factors; Antineoplastic Agents; Aspirin; Female; Genetic Predisposition to Diseas

2013
New Findings in eNOS gene and Thalidomide Embryopathy Suggest pre-transcriptional effect variants as susceptibility factors.
    Scientific reports, 2016, Mar-23, Volume: 6

    Topics: Adolescent; Adult; Brazil; Child; Female; Fetal Diseases; Gene Frequency; Genetic Predisposition to

2016
A pharmacogenetic analysis of the Canadian Cancer Trials Group MY.10 clinical trial of maintenance therapy for multiple myeloma.
    Blood, 2016, 08-04, Volume: 128, Issue:5

    Topics: Antineoplastic Combined Chemotherapy Protocols; Canada; Genetic Predisposition to Disease; Hematopoi

2016
Polymorphism of IL-10 receptor β affects the prognosis of multiple myeloma patients treated with thalidomide and/or bortezomib.
    Hematological oncology, 2017, Volume: 35, Issue:4

    Topics: Adult; Aged; Aged, 80 and over; Alleles; Antineoplastic Combined Chemotherapy Protocols; Bortezomib;

2017
Cereblon and IRF4 Variants Affect Risk and Response to Treatment in Multiple Myeloma.
    Archivum immunologiae et therapiae experimentalis, 2016, Volume: 64, Issue:Suppl 1

    Topics: Adaptor Proteins, Signal Transducing; Alleles; Antineoplastic Combined Chemotherapy Protocols; B-Lym

2016
Genetic variants in XRRC5 may predict development of venous thrombotic events in myeloma patients on thalidomide.
    Blood, 2009, May-28, Volume: 113, Issue:22

    Topics: Angiogenesis Inhibitors; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Hum

2009
Role of the TNF-α promoter polymorphisms for development of multiple myeloma and clinical outcome in thalidomide plus dexamethasone.
    Leukemia research, 2010, Volume: 34, Issue:11

    Topics: Adult; Aged; Aged, 80 and over; Antineoplastic Combined Chemotherapy Protocols; Case-Control Studies

2010
Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma.
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2011, Mar-01, Volume: 29, Issue:7

    Topics: Aged; Antineoplastic Combined Chemotherapy Protocols; Dose-Response Relationship, Drug; Female; Gene

2011
Converging evidence for brain stem injury in autism.
    Development and psychopathology, 2002,Summer, Volume: 14, Issue:3

    Topics: Autistic Disorder; Brain Stem; Child; Genetic Predisposition to Disease; Homeodomain Proteins; Human

2002
Tumor necrosis factor-alpha plays an important role in restenosis development.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2005, Volume: 19, Issue:14

    Topics: Aged; Alleles; Angina Pectoris; Angiography; Angioplasty, Balloon, Coronary; Animals; Constriction,

2005
Effectors of inflammation in actinic prurigo.
    Journal of the American Academy of Dermatology, 2001, Volume: 44, Issue:6

    Topics: Adolescent; Adult; Child; Female; Genetic Predisposition to Disease; Humans; Immunohistochemistry; I

2001