Clinical Trials

The purpose of this study is to collect natural history and treatment-related data of patients diagnosed with congenital disorders of glycosylation.

The purpose of this study is to to investigate if variable phenotypic expression, with the same genotype, could be explained by mtDNA haplotype variations.

The purposes of this study are to determine whether maternal T cells are activated and expand after in utero intervention, and to determine whether placental macrophages and histology in the maternal-fetal interface exhibit increased activation and inflammation in surgical cases born preterm (<37 weeks)="" compared="" to="">

The purpose of this study is to evaluate the safety and tolerability of oral Epalrestat therapy in a child with PMM2-CDG.

The purpose of this study is to use Whole Exome Sequencing (WES) to identify genetic variants in patients and families who have received care for VACTERL syndrome or congenital malformations at the Mayo Clinic. Additionally, to perform RNA Sequencing and targeted metabolomics analysis to identify alterations in gene expression and metabolites associated with the NAD pathway.

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.

The purpose of this study is to assess the effectiveness and safety of AVTX-803 in subjects with LAD II (SLC35C1-CDG).

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.  ...

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.

The purpose of this study is to determine if psychosine (PSY) is an indicator of Krabbe disease status and predictor of disease progression.

The purpose of this study is to attempt to establish new mast cell lines from patients with systemic mastocytosis using peripheral blood and/or bone marrow.

The objective of this study is to evaluate the role of molecular testing to improve newborn screening (NBS) for congenital adrenal Hyperplasia (CAH).

The objectives of this study are to collect data on survival of pediatric patients with early onset of either GM1 gangliosidosis, GM2 gangliosidoses, or GD2, to collect data that can constitute a historical control group for future clinical trials, and to evaluate whether the 3 conditions can be assessed together in a single clinical trial.

The purpose of this study is to validate novel echocardiographic parameters and algorithms to quantitatively evaluate right ventricular function in patients with Hypoplastic Left Heart Syndrome (HLHS) by applying these methods to previously acquired echocardiographic examinations. 

The purpose of this study is to learn more about aspirin exacerbated respiratory disease (AERD) by collecting blood samples from affected patients to study bleeding and clotting function.