Genómica clínica

A continuación se enumeran ensayos clínicos actuales.

19 estudios en Genómica clínica
(estudios abiertos únicamente).

Filtrar esta lista de estudios según la ubicación, el estado del estudio y más.

1. A Study of Genetic Testing in the Care of Glioma Patients

   Rochester, Minn.

   The purpose of this study is to validate the effectiveness and clinical use of array and next generation sequencing tests in hopes of adopting these tests as standard of care and advancing glioma patient care and clinical practice at Mayo Clinic and beyond.

2. A Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas

   Rochester, Minn.

   The purpose of this study is to evaluate children ≥ 1 year of age and adults with neurofibromatosis type 1 (NF1) and plexiform neurofibromas treated with the MEK inhibitor, binimetinib. The primary objective is to determine if there is an adequate level of disease responsiveness to binimetinib in children and adults with NF1 and inoperable plexiform neurofibromas. The objective response to binimetinib is defined as ≥ 20% decrease in tumor volume reduction by 12 courses.

3. A Study to Assess the Natural History and Routine Clinical Management of Congenital Disorders of Glycosylation

   Rochester, Minn.

   The purpose of this study is to collect natural history and treatment-related data of patients diagnosed with congenital disorders of glycosylation.

4. Study to Determine Effectiveness of Dietary Monosaccharide Supplementation in Patients with Congenital Disorders of Glycosylation

   Rochester, Minn.

   The purpose of this study is to assess the safety and tolerability of oral monosaccharide (galactose and fucose) treatment in a small pilot group of congenital disorders of glycosylation patients.

5. A Study of Vaccine Therapy in Treating Patients with Malignant Peripheral Nerve Sheath Tumors that are Recurrent or Cannot Be Removed by Surgery

   Rochester, Minn.

   The purpose of this study is to assess the side effects and best dose of a genetically engineered measles virus for treating patients who have a cancerous peripheral nerve sheath tumor that cannot be removed by surgery (unresectable) or that has come back after a period of improvement (recurrent).

6. Clinical and Basic Investigations into Congenital Disorders of Glycosylation

   Rochester, Minn.

   The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.

    

7. A Study Evaluating the Diagnosis of an X & Y Chromosome Variation

   Rochester, Minn.

   The purpose of this study is to understand the experiences of parents of children and individuals with an X & Y chromosome variation with the diagnosis and management of their condition, and to determine if the addition of the Clinical Genomics appointment line to the DLMP report assists patients in their next steps of care.

8. A Study to Evaluate Patient Experience and Satisfaction with Predictive Genomic Testing Ordered Through SL3

   Rochester, Minn.

   The purpose of this study is to better understand the impact of predictive genomic testing in the healthy adult population by assessing decisional satisfaction/regret, understanding of disease risk, lifestyle modifications, and satisfaction with the testing experience. 

    

9. North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

   Rochester, Minn.

   The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

10. A Study to Analyze the Microbiome and Immunology of the Lower and Upper Female Reproductive Tract in Women with Endometriosis

    Rochester, Minn.

    The purpose of this study is to map the female reproductive tract microbiome in patients with and without endometriosis to seek correlations of the microbiome to endometriosis, to determine if lower reproductive tract microbiome is predictive of upper reproductive tract changes by comparing composition of the microbiome in the lower and upper reproductive tracts, to explore immunologic differences in patients with and without endometriosis, compare presence of immunologic factors and cells between ectopic and eutopic endometrium, and to compare systemic immune system characteristics in patients with and without endometriosis using mass cytometry of peripheral blood samples.