Genómica clínica

A continuación, se enumeran los ensayos clínicos actuales.

Filtra esta lista de estudios por sede, estatus, etc.

1. A Study to Identify Late-Occurring Complications in Childhood Cancer Survivors

   Rochester, Minn.

   The purpose of this trial is to identify cancer survivors who are at increased risk of developing late-occurring complications after undergoing treatment for childhood cancer. A patient's genes may affect the risk of developing complications, such as congestive heart failure, heart attack, stroke, and second cancer, years after undergoing cancer treatment. Genetic studies may help doctors identify survivors of childhood cancer who are more likely to develop late complications.

2. Natural History Study Protocol in PMM2-CDG (CDG-Ia)

   Rochester, Minn.

   Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia). Data from this natural history study will be used to determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a later clinical trial with a new chemical entity, Lipo-M1P.

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. Clinical and Basic Investigations into Congenital Disorders of Glycosylation

   Jacksonville, Fla., 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.

    

5. 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.

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. 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.

8. 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.

9. 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.

10. Inherited Muscle Diseases Repository

    Rochester, Minn.

    To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.