Genómica clínica

A continuación, se enumeran los ensayos clínicos actuales.

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

1. 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.

2. 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.

    

3. MC230818 Understanding the mechanisms of clonal and non-clonal cytopenia following CAR-T therapy (MC230818)

   Rochester, Minn., Mankato, Minn., Jacksonville, Fla., La Crosse, Wis., Eau Claire, Wis., Scottsdale/Phoenix, Ariz., Albert Lea, Minn.

   Determine the preexisting and therapy-emergent germline and somatic variants associated with an increased risk of clonal and non-clonal cytopenia following CAR-T cell therapy.

4. Zagociguat in Participants With Melas (Prizm)

   Rochester, Minn.

   The purpose of this study is to evaluate the effects of zagociguat on fatigue and cognition in patients with MELAS.

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. Genomic and Environmental Basis of Imperforate Anus

   Rochester, Minn.

   The study aims are to develop a consent-based IRB proposal that will enroll newborns who have imperforate anus.  The proposal will include permission for chart review and database information storage, to develop a database that will include MRN, imperforate anus phenotype, information on other congenital malformations, syndromic diagnosis if available, demographic information, and to develop a biobank of DNA and white blood cell samples from infants with imperforate anus. If patients are undergoing a skin biopsy for a medically indicated reason, cells will be requested.

   Imperforate Anus, also known as anal atresia, is a rare birth defect.  Unable to pass stool through the gastrointestinal tract, this condition can result in death of the newborn and emergency surgery is required once discovered.  More than two thirds of affected infants have other birth defects that include other parts of the gastrointestinal tract, airway, heart, skeleton, kidneys, eyes, or ears. The exact prevalence of imperforate anus in the newborn population is unknown. 

10. Innovative Trial for Understanding the Impact of Targeted Therapies in NF2

    Rochester, Minn.

    The purpose of this study is to test multiple experimental therapies simultaneously in patients with neurofibromatosis type 2 (NF2) with associated progressive tumors of vestibular schwannomas (VS), non-vestibular schwannomas (non-VS), meningiomas, and ependymomas. This Master Study is being conducted as a "basket" study that may allow people with multiple tumor types associated with NF2 to receive new drugs throughout this study. Embedded within the Master Study are individual drug substudies. - Investigational Drug Sub-study A: Brigatinib.