Genómica clínica

A continuación, se enumeran los ensayos clínicos actuales.

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

1. 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.

    

2. Study of HPN536 in Patients with Advanced Cancers Associated With Mesothelin Expression

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

   To assess the safety and tolerability at increasing dose levels of HPN536 in successive cohorts of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to estimate the maximum tolerated dose (MTD) or maximum administered dose (MAD) and select the recommended Phase 2 dose (RP2D).

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. 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).

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 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. 

    

7. A Study To Investigate The Safety, Tolerability, Pharmacokinetics And Pharmacodynamics Of RO7248824 In Participants With Angelman Syndrome

   Rochester, Minn.

   The primary objective of this study is to investigate the safety and tolerability of RO7248824 in participants with Angelman Syndrome (AS) aged 1-12 years.

8. 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.

9. Visual Outcomes in Patients with Neurofibromatosis Type 1

   Rochester, Minn.

   The purpose of this study is to determine visual outcome in patients with neurofibromatosis type 1 (NF1).  The study will also correlate visual outcome with the history of optic glioma based on previous MRI imaging and compare visual outcomes in treated and untreated adult NF1 patients with a history of optic glioma.

10. 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.