Clinical Trials

The objectives of this study are to perform molecular and/or biochemical testing in individuals with suspected hereditary disorders, and/or their family members, to further elucidate possible mechanisms of disease and/or inheritance, and/or to help yield a final laboratory diagnosis at the judgement of the original ordering healthcare provider. 

The primary purpose of this study is to evaluate the effectiveness and safety of ZX008 in subjects with CDD.

The purpose of this study is to identify patients with rare genetic disorders that may potentially benefit from an ASO therapeutic based on the characteristics of their genetic disease and the causative genetic alterations and seek the research and development opportunities to have them developed, to have the safety and toxicity studies performed with the ultimate goal of treating the individual in a future N of 1 clinical trial.

This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.

The purpose of this study is to survey individuals and families on their experience of receiving a diagnosis of a sex chromosome abnormality and any follow-up services or support they received, and to solicit information on suggested best practices for the return of a diagnosis and subsequent support services in clinical and social care.

The purpose of this study is to investigate whether a new high-resolution analysis of MLCL and/or CL can uncover additional CL subspecies that enhance sensitivity of this ratio or improve the signal-to-noise than previously published studies.

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 objectives of this study are to perform genomic testing and trio analysis on specimens from three deceased patients with partial OTC deficiency who died unexpectedly while receiving treatment, along with testing on blood from their 5 parents, to determine whether there were any other genetic factors that may have contributed to sudden, unexpected death of the patient. In addition, medical records analysis and case summary would be carried out for all deceased patients with known partial OTC deficiency.

To consider whether further investigation into the pathogenesis of OTC deficiency is warranted to find previously unidentified risk ...

This laboratory study is looking at genetic mutations and environmental exposure in young patients with retinoblastoma and in their parents and young healthy unrelated volunteers. Gathering information about gene mutations and environmental exposure may help doctors learn more about the causes of retinoblastoma in young patients.

Patients with alpha-1 antitrypsin deficiency are prone to having an imbalance of lung Elastin degradation which render the patient's lung’s susceptible to inflammatory insults.  We have postulated that a severe COVID infection would accentuate this inflammatory imbalance and be more likely to lead the patient into a hospitalization event.  Our hypothesis would be to determine if this genetic mutation is found more frequently and patients who have been hospitalized with COVID.

The purpose of this study is to form processes to get findings from targeted gene sequencing that can be acted on using two common actionable genetic disorders–familial hyperlipidemia and familial colorectal cancer. 

This is an interview study to understand the views of people with the lived experience of 10 different genetic conditions on gene modification therapies, and specifically on prenatal gene editing. Prenatal gene editing is not happening now, but it is possible that prenatal gene editing will be available in the next few years, at least in a research setting, and we want to know your thoughts about the direction this technology is going. We to hope speak with many different stakeholders (patients and their families, clinicians, scientists) with diverse perspectives to understand values and priorities for prenatal gene ...