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Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review.

ABSTRACT: An increasing proportion of the individual and population risk to develop Parkinson's disease (PD) can be explained by genetic variants of different effect strength, forming a continuum from rare high penetrance gain or loss of function mutations to relatively common genetic risk variants that only mildly modify disease risk. In the coming years, further advances in molecular genetic technologies, in particular the increasing use of next generation sequencing, is likely to generate a wealth of new knowledge about the genetic basis of PD. Although specific treatments for PD based on the underlying genetic etiology will probably not be available in the near future, genetic testing is therefore likely to play an increasing role, both in the counselling of individual patients and their families with respect to the expected disease course and recurrence risks, and in the stratification of patient groups in clinical trials. Thus, the usefulness of genetic testing strongly depends on question asked and needs to be considered within each particular setting.

SUBMITTER: Gasser T

PROVIDER: S-EPMC4923738 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review.

Gasser Thomas T

Journal of Parkinson's disease 20150101 2

An increasing proportion of the individual and population risk to develop Parkinson's disease (PD) can be explained by genetic variants of different effect strength, forming a continuum from rare high penetrance gain or loss of function mutations to relatively common genetic risk variants that only mildly modify disease risk. In the coming years, further advances in molecular genetic technologies, in particular the increasing use of next generation sequencing, is likely to generate a wealth of n ...[more]

PMID: 25624421

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Project description:ObjectiveTo summarize the evidence comparing various balanced crystalloid solutions.Data sourcesWe searched MEDLINE, EMBASE, PUBMED, and CENTRAL databases.Study selectionWe included randomized controlled trials that directly compared the IV administration of one balanced crystalloid solution with another.Data extraction and analysisWe examined metabolic and patient-important outcomes and conducted meta-analysis using random effects model. For comparisons or outcomes with insufficient data to allow for pooling, we describe results narratively. We assessed risk of bias for individual trials using the Cochrane risk of bias tool and certainty of evidence using Grading of Recommendations, Assessment, Development and Evaluations methodology.Data synthesisWe included 24 randomized controlled trials comparing Plasmalyte, Ringer's Lactate, Ringerfundin, Hartmann's solution, Ringer's Bicarbonate, Sterofundin, Kabilyte, Normosol, and novel balanced solutions. Of the included studies, 16 were performed in the perioperative setting, six in the ICU, one in the emergency department, and one in healthy volunteers. Administration of Plasmalyte resulted in a lower postinfusion serum chloride concentration (mean difference, 0.83 mmol/L lower; 95% CI, 0.03-1.64 mmol/L lower, low certainty), higher postinfusion base excess (mean difference, 0.65 mmol/L higher, 95% CI, 0.25-1.05 mmol/L higher, low certainty), and lower postinfusion serum lactate levels (mean difference, 0.46 mmol/L lower; 95% CI, 0.05-0.87 mmol/L lower, low certainty) compared with administration of any other balanced crystalloid. There were no important differences in postinfusion serum pH or potassium when comparing Plasmalyte with other balanced crystalloids. Data addressing other comparisons or examining the impact of different balanced crystalloids on patient-important outcomes were sparsely reported and too heterogeneous to allow for pooling.ConclusionsAdministration of Plasmalyte results in lower serum concentrations of chloride and lactate, and higher base excess than other balanced crystalloids. The certainty of evidence is low and requires further study in large randomized controlled trials to inform the choice of balanced crystalloid in patients requiring volume replacement.

Project description:BackgroundAs COVID-19 cases continue to rise globally, evidence from large randomized controlled trials is still lacking. Currently, numerous trials testing potential treatment and preventative options are being undertaken all over the world.ObjectivesWe summarized all registered clinical trials examining treatment and prevention options for COVID-19. Additionally, we evaluated the quality of the retrieved studies.Data sourcesClinicaltrials.gov, the Chinese Clinical Trial Registry and the European Union Clinical Trials Register were systematically searched.Study eligibility criteriaRegistered clinical trials examining treatment and/or prevention options for COVID-19 were included. No language, country or study design restrictions were applied. We excluded withdrawn or cancelled studies and trials not reporting therapeutic or preventative strategies for COVID-19.Participants and interventionsNo restrictions in terms of participants' age and medical background or type of intervention were enforced.MethodsThe registries were searched using the term 'coronavirus' or 'COVID-19' from their inception until 26 March 2020. Additional manual search of the registries was also performed. Eligible studies were summarized and tabulated. Interventional trials were methodologically analysed, excluding expanded access studies and trials testing traditional Chinese medicine.ResultsIn total, 309 trials evaluating therapeutic management options, 23 studies assessing preventive strategies and three studies examining both were retrieved. Finally, 214 studies were methodologically reviewed. Interventional treatment studies were mostly randomized (n = 150/198, 76%) and open label (n = 73/198, 37%) with a median number of planned inclusions of 90 (interquartile range 40-200). Major categories of interventions that are currently being investigated are discussed.ConclusionsNumerous clinical trials have been registered since the onset of the COVID-19 pandemic. Summarized data on these trials will assist physicians and researchers to promote patient care and guide future research efforts for COVID-19 pandemic containment.

Dataset Information

Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review.

Publications

Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review.

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