临床基因组学

以下为当前的临床试验。

按院区、状态和其他条件筛选该研究列表。

1. Clinical and Basic Investigations into Congenital Disorders of Glycosylation

   Rochester, Minn., Jacksonville, Fla.

   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.

    

2. 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).

3. 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.

4. 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.

5. A study to create and analyze a comprehensive longitudinal resource using testing results from those with genetic risk of Alzheimer's disease

   Scottsdale/Phoenix, Ariz.

   This study aims to establish, use, and extensively share a comprehensive longitudinal resource of genetic, non-genetic, and cognitive data, brain imaging and fluid biomarker measurements of amyloid-β (Aβ), tau pathophysiology, neurodegeneration, and inflammation (“A,T,N,I”), and biological samples to advance the study of cognitively unimpaired older adults at six levels of genetic risk for Alzheimer’s disease (AD) due to their apolipoprotein E (APOE) genotype, including understudied APOE2 and APOE4 homozygotes (HMs) at the lowest and highest risk and those APOE4 HMs and heterozygotes (HTs) who remain unimpaired at older ages due to unknown protective factors and spared pathophysiological effects despite their genetic risk.

6. A Study to Analyze Whole Methylome for Identification of Epigenetic Variations in Undiagnosed Congenital Disorders

   Rochester, Minn.

   The purpose of this study is to analyze genome-wide methylation patterns in DNA from patients with suspected hereditary disorders but for whom all previous genetic testing has been negative and/or equivocal.

7. GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance

   Rochester, Minn., Jacksonville, Fla., Scottsdale/Phoenix, Ariz.

   The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS) in addition to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will aid women at risk of breast cancer in making a decision to take (or not take) medications to prevent breast cancer.

8. Gemini Study to Evaluate the Integration of Cancer Genetic Testing into a Cancer Clinical Practice at Mayo Clinic at Arizona

   Jacksonville, Fla., Scottsdale/Phoenix, Ariz.

   The purpose of this study is to determine the prevalence of genetic mutations in cancer patients from various ethnic populations seeking care at Mayo Clinic cancer clinics.

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. APOL1 Long-term Kidney Transplantation Outcomes Network (APOLLO)

    Scottsdale/Phoenix, Ariz.

    The purpose of this study is to attempt to improve outcomes after kidney transplantation and to improve the safety of living kidney donation based upon variation in the apolipoprotein L1 gene (APOL1). Genes control what is inherited from a family, such as eye color or blood type. Variation in APOL1 can cause kidney disease. African Americans, Afro-Caribbeans, Hispanic Blacks, and Africans are more likely to have the APOL1 gene variants that cause kidney disease. APOLLO will test DNA from kidney donors and recipients of kidney transplants for APOL1 to determine effects on kidney transplant-related outcomes.