علم الجينوم السريري

بالأسفل التجارب السريرية الحالية.

غربل قائمة الدراسات هذه بالموقع والحالة وغيرها.

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. MC230818 Understanding The Mechanisms Of Clonal And Non-clonal Cytopenia Following CAR-T Therapy

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

   This clinical trial evaluates the impact of preexisting and therapy-emergent germline and somatic variants on cytopenia in patients with multiple myeloma or CD19 positive lymphoproliferative disorder (LPD) following chimeric antigen receptor T-cell (CAR-T) therapy. The most common adverse event after CAR-T therapy is lower than normal blood cells (cytopenia) and up to one third of patients experience cytopenia that last longer than 30 days post-infusion. Germline and somatic variants are changes in genes found using cancer genomic tests. Cancer genetic/genomic testing is a series of tests that find specific changes in cancer cells or in blood deoxyribonucleic acid. Identifying gene mutations may help identify the risk of cytopenia in patients with multiple myeloma or CD19 positive LPD following CAR-T therapy.

3. 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. 

4. 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.

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 Phase 3 Efficacy And Safety Study Of Pitolisant In Patients With Prader-Willi Syndrome

   Rochester, Minn.

   The purpose of this study is to evaluate the impact of pitolisant on Excessive daytime sleepiness in patients with Prader-Willi syndrome.

7. AVTX-803 in Patients with Leukocyte Adhesion Deficiency Type II

   Rochester, Minn.

   The purpose of this study is to assess the long-term safety and effectiveness of AVTX-803 in subjects with leukocyte adhesion deficiency Type II (LAD II).  

8. 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.

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. Spatial Profiling of the Zone II (Intrasynovial) Flexor Tendon Fibrotic Niche

    Rochester, Minn.

    The purpose of this study is to compare avian tendon healing spatial biology findings to human intrasynovial tendon tissue spatial gene expression. By correlating findings from our avian tendon repair model to human spatial gene expression findings, a comprehensive spatial molecular atlas or map of the zone II/intrasynovial tendon fibrotic niche could be synthesized. Additionally, by validating the biochemical findings in our avian model, we could further establish this preclinical model as a clinically relevant platform for investigating novel therapeutics to enhance intrinsic healing and mitigate peritendinous adhesions formation following zone II tendon injury.