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Tay-Sachs Disease

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1. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Full Text available with Trip Pro

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully (...) informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review.To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.We searched

2018 Cochrane

3. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Full Text available with Trip Pro

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully (...) informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting.To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.We searched the Cochrane Cystic Fibrosis and Genetic Disorders

2015 Cochrane

4. Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease Full Text available with Trip Pro

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD.We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast (...) lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a disease phenotype of lysosomal lipid accumulation. The Tay-Sachs disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this disease model, we observed reduction of lipid accumulation by employing enzyme replacement

2018 Orphanet journal of rare diseases

5. Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. Full Text available with Trip Pro

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion.Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in 5 unrelated patients for copy number changes where heterozygous and/or homozygous disease causing mutation/s could

2018 BMC Medical Genetics

6. N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)

: February 12, 2019 See Sponsor: IntraBio Inc Information provided by (Responsible Party): IntraBio Inc Study Details Study Description Go to Brief Summary: This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease). Condition or disease Intervention/treatment Phase GM2 Gangliosidosis Tay-Sachs Disease Sandhoff Disease Drug (...) N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. N

2018 Clinical Trials

7. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease Full Text available with Trip Pro

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem (...) cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing tremor since 7 years of age. He had gait ataxia, a speech stammer and swallowing problems. His condition had had a static course apart from his tremor that had been gradually deteriorating. Because of the deterioration in his neurological function, the patient had an uneventful, matched-sibling donor bone marrow transplant at the age of 15 years. Eight years post

2017 JIMD reports

8. Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population Full Text available with Trip Pro

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient.We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented

2017 Child Neurology Open

9. Tay-Sachs Disease

of VI. Course Death occurs in first 3-4 years Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Tay-Sachs Disease." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Ontology: Tay-Sachs Disease (C0039373) Definition (MEDLINEPLUS) Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup (...) cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. Concepts Disease or Syndrome ( T047 ) MSH ICD10 SnomedCT 111385000 English G(M2) Gangliosidosis, Type I , Gangliosidosis G(M2), Type I , Tay Sachs disease , GM2 gangliosidosis, type 1 , GM2 gangliosidosis, type 1 , Gangliosidosis GM2, Type I , GM2 Gangliosidosis, Type I , GM2 Gangliosidosis, B Variant , Gangliosidosis GM2, B

2018 FP Notebook

10. Tay-Sachs Disease (TSD) testing in individuals of non?ashkenazi jewish origin

. Lansdale: HAYES, Inc.. Genetic Testing Publication. 2011 Authors' conclusions Tay-Sachs disease (TSD) is an inherited fatal neurodegenerative disease, the prototype of a group of disorders called hexosaminidase A deficiency or GM2 gangliosidosis. Hexosaminidase A deficiencies are caused by excessive storage of a cell membrane glycolipid, GM2 ganglioside, within the cell lysosomes. Infants with TSD typically appear developmentally normal in the first months of life. Between 3 and 6 months of age (...) Tay-Sachs Disease (TSD) testing in individuals of non?ashkenazi jewish origin Tay-Sachs Disease (TSD) testing in individuals of non–ashkenazi jewish origin Tay-Sachs Disease (TSD) testing in individuals of non–ashkenazi jewish origin Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Tay-Sachs Disease (TSD) testing in individuals of non–ashkenazi jewish origin

2011 Health Technology Assessment (HTA) Database.

11. Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations Full Text available with Trip Pro

Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations 27033294 2017 01 05 2018 11 13 1757-790X 2016 2016 Mar 31 BMJ case reports BMJ Case Rep Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. 10.1136/bcr-2016-214634 bcr2016214634 Steiner Katharina Marie KM Universitatsklinikum Essen Klinik fur Neurologie, Essen, Nordrhein-Westfalen, Germany. Brenck Johannes J Universitatsklinikum Essen Klinik fur Neurologie (...) System Diseases etiology Tay-Sachs Disease diagnostic imaging genetics beta-Hexosaminidase alpha Chain genetics 2016 4 2 6 0 2016 4 2 6 0 2017 1 6 6 0 epublish 27033294 bcr-2016-214634 10.1136/bcr-2016-214634 PMC4840779 Genet Med. 2005 Feb;7(2):119-23 15714079 Science. 1989 Mar 17;243(4897):1471-4 2522679 J Biol Chem. 1988 Dec 15;263(35):18587-9 2848800

2016 BMJ case reports

12. Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease Full Text available with Trip Pro

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations (...) in the β-subunit (encoded by HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a substrate-specific cofactor for HexA. In their infantile, acute forms, these diseases rapidly progress with mental and psychomotor deterioration resulting in death by approximately 4 years of age. After gene transfer that overexpresses one of the deficient subunits, the amount of HexA heterodimer formed would empirically be limited by the availability

2016 Human gene therapy

13. A Natural History of Late Onset Tay-Sachs Disease

Details Study Description Go to Brief Summary: The purpose of this study is to learn more about the natural history of Late Onset GM2 Gangliosidosis (Tay-Sachs disease and Sandhoff Disease) to inform future clinical trials. Condition or disease GM2 Gangliosidosis Study Design Go to Layout table for study information Study Type : Observational [Patient Registry] Estimated Enrollment : 10 participants Observational Model: Cohort Time Perspective: Prospective Target Follow-Up Duration: 6 Months Official (...) A Natural History of Late Onset Tay-Sachs Disease A Natural History of Late Onset Tay-Sachs Disease - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. A Natural History of Late Onset Tay-Sachs Disease

2016 Clinical Trials

14. Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population Full Text available with Trip Pro

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses

2016 Genetic testing and molecular biomarkers

15. ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE Full Text available with Trip Pro

ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity.We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment.Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic

2014 Muscle & nerve

16. The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue Full Text available with Trip Pro

from patients with the B variant form of Tay-Sachs disease and it is virtually absent in the O-variant patients. The addition of purified neuraminidase and various purified hexosaminidases exerted only a minimal synergistic effect on the hydrolysis of Tay-Sachs ganglioside in the lysosomal preparations from the control or patient with the O variant of Tay-Sachs disease. (...) The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain obtained at biopsy from Tay-Sachs patients. Utilizing Tay-Sachs ganglioside labeled with (14)C in the N-acetylgalactosaminyl portion or (3)H in the N-acetylneuraminosyl portion

1972 Journal of Clinical Investigation

17. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease [Cochrane Protocol]

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease [Cochrane Protocol] Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email salutation (e.g. "Dr Smith" or "Joanne (...) studies per subgroup is required. ">Subgroup analyses A sensitivity analysis is conducted to assess the impact of decisions taken in the review process on the meta-analysis outcome. These decisions may have been made in various stages of the review, e.g. the decision to exclude certain disease models, the decision to pool certain units of measurement for an outcome, the choice of effect measure, how subgroup variables are stratified etc. In order to assess the robustness of the findings of the meta

2015 PROSPERO

18. Gene Therapy for Tay-Sachs Disease

Institute of Neurological Disorders and Stroke (NINDS) National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Information provided by (Responsible Party): University of Minnesota - Clinical and Translational Science Institute Study Details Study Description Go to Brief Summary: Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions. This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase (...) . Condition or disease Tay Sachs Disease Sandhoff Disease Late Onset Tay Sachs Disease Detailed Description: Much has been done in the past four decades to better understand, improve diagnostic measures of, and prevent hexosaminidase deficiency diseases, yet all of them — Tay-Sachs, Sandhoff, and Late Onset Tay-Sachs (LOTS) — remain diseases without treatment. Much work remains to be done to understand and effectively treat these diseases. To date, no comprehensive assessment of the natural history of Tay

2013 Clinical Trials

19. Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. (Abstract)

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD-affected births.Epidemiological observational study involving a complete retrospective audit of infantile and intermediate TSD cases diagnosed in Sydney and Melbourne between 1 January 1995 and 31 December 2011 (Royal Children's Hospital Melbourne; Pacific

2012 Medical Journal of Australia

20. Tay-Sachs' disease and Fabry's disease: clinical and chemical diagnosis of two metabolic eye diseases. Full Text available with Trip Pro

Tay-Sachs' disease and Fabry's disease: clinical and chemical diagnosis of two metabolic eye diseases. 4210160 1974 09 16 2018 11 13 0028-7091 50 7 1974 Jul-Aug Bulletin of the New York Academy of Medicine Bull N Y Acad Med Tay-Sachs' disease and Fabry's disease: clinical and chemical diagnosis of two metabolic eye diseases. 777-87 Cotlier E E eng Journal Article United States Bull N Y Acad Med 7505398 0028-7091 IM Diagnosis, Differential Eye Diseases diagnosis Fabry Disease diagnosis

1974 Bulletin of the New York Academy of Medicine

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