Clinical Trials

Studies &

The NIH is currently conducting a study that will explore the natural history and mechanisms of novel or known but incompletely characterized disorders of pyrimidine and purine metabolism (DPPMs). Eligible participants will be ascertained by identifying biochemical abnormalities in the levels of purines, pyrimidines and related compounds in body fluids, abnormal activity of enzymes, and/or identifying pathogenic variants in genes linked to purines and pyrimidine metabolism. We will collect participants DNA for genetic and genomic analyses, body fluids for biochemical analysis, blood and tissue samples for enzyme analysis, gastrointestinal samples for microbiome analysis. Some participants may undergo skin biopsy. Study subjects will be offered medical, laboratory, and imaging studies at the NIH Clinical Research Center consistent with the standards of care. Collected data will be analyzed to improve understanding of the natural history, develop statistical prediction models, identify and validate novel biomarkers.

Patient Flyer

Link to study

  • There is an opportunity to participate in a natural history protocol at the National Institutes of Health (NIH) through National Human Genome Research Institute (NHGRI) in Bethesda, Maryland. Dr. Oleg Shchelochkov, MD and Shannon Haines, CGC are part of the Purine and Pyrimidine Unit of NHGRI and are available for questions. Participation starts via telehealth appointments and involves one weekly visit to the NIH annually. If you have questions about this opportunity, including travel/stay/logistics please contact shannon.haines@nih.gov to set up a phone/video conversation!

Picture of Oleg A. Shchelochkov, M.D. Senior Clinician Office of the Clinical Director

Oleg A. Shchelochkov, M.D.
Senior Clinician
Office of the Clinical Director NHGRI

Shannon Haines, MS, CGC
she/her
Genetic Counselor, Purine and Pyrimidine Unit



Project WellCAST started in 2019 as a partnership between patient foundations, researchers, and clinicians who were interested in helping families of children with rare disorders access evidence-based treatments from home. Through Project WellCAST, we study how a variety of remotely-accessed resources and therapies might impact the lives of rare disorder caregivers.

FAQs

What is the difference between ‘Studies’ and ‘Clinical Trials’?

The terms "studies" and "clinical trials" are often used interchangeably, but they have distinct meanings in the context of research:

1. Study:
Definition: A broad term that refers to any scientific investigation designed to answer a specific research question.
Types: Studies can be observational (where researchers observe outcomes without intervention) or interventional (where researchers introduce treatments or interventions).
Examples: Surveys, case studies, cohort studies, and laboratory research are all types of studies.


2. Clinical Trial:
Definition: A specific type of interventional study where participants receive medical interventions (such as new treatments, drugs, or therapies) to evaluate their safety and effectiveness.
Phases: Clinical trials are conducted in phases (I-IV), each designed to answer different questions about the intervention’s safety, dosage, and efficacy.
Regulation: Clinical trials are usually more regulated, with strict protocols and oversight from medical and regulatory bodies.


Key Difference:
Scope: All clinical trials are studies, but not all studies are clinical trials. A study might simply observe existing conditions, while a clinical trial actively tests new interventions on participants.
In summary, "clinical trials" specifically refer to experiments testing medical interventions on participants, while "studies" is a broader term encompassing all types of research investigations.