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Medical Genetics Clinical Trials

Coffin-Siris syndrome and other BAF-related phenotypes

Condition: Coffin-Siris Syndrome

Type of Research: Observational
Principal Investigator: Samantha Vergano, MD
Primary Study Coordinator: Ashley Vasko, BS

Study Specifications: The primary objective of this registry is to acquire and store ongoing clinical data of individuals with a clinical or molecular diagnosis of CSS and/or BAF pathway mutations. Acquisition of further physical and molecular information from these individuals will add to our knowledge of the disorders in the BAF pathway, predominately CSS, and will establish a consolidated patient registry for this syndrome.

Point of Contact for the Study: CSSRegistry@chkd.org
Phone: (757) 668-9723


MARS

Condition: Mucopolysaccharidosis Type IVA (MPS IVA)

Type of Research: Observational
Principal Investigator: Samantha Vergano, MD
Primary Study Coordinator: Erin McAndrews, LPN

Study Specifications: MARS is a multicenter, multinational, observational disease registry for patients diagnosed with MPS IVA. The Registry will collect medical history, and clinical and safety assessments every six months, for up to 10 years. These assessments are designed to further characterize the signs and symptoms of the disease, and to further characterize the safety profile of Vimizim in a broader population. It is not required that patients receive Vimizim to be eligible to participate in this Registry. In addition, this Registry will collect additional data on patients who have completed the MOR-005 and MOR-007 clinical trials.

Point of Contact for the Study: Erin McAndrews LPN
Email: Erin.McAndrews@chkd.org
Phone: (757) 668-6896


Rare Disease Registry

Conditions: Pompe, Fabry, Gaucher, MPS1

Type of Research: Observational
Principal Investigator: Samantha Vergano, MD
Primary Study Coordinator: Ashley Vasko, BS

Study Specifications: The rare disease registry is a retrospective and prospective study monitoring individuals with a molecular and clinical diagnosis of Pompe, Fabry, Gaucher, and MPS1. The purpose of the registry is to better understand the progression, variability, and natural history of these diseases.

Point of Contact for the Study: Ashley Vasko BS
Email: Ashley.Vasko@chkd.org
Phone: (757) 668-7176


Hunter Syndrome (HOS) Registry 

Condition: Hunter Syndrome (Mucopolysaccharidosis II)

Principal Investigator: Samantha Vergano, MD
Primary Study Coordinator: Ashley Vasko, BS

Study Specifications: The purpose of this study is to collect data that will increase understanding of Hunter syndrome. The data from HOS may provide guidance to healthcare professionals about disease treatment options.

Point of Contact for the Study: Ashley Vasko, BS
Email:Ashley.Vasko@chkd.org
Phone: (757) 668-7176