Synpheny-3

Condition: Phenylketonuria (PKU)

Type of Research: Prospective
Principal Investigator: Samantha Vergano, MD

Study Specifications: Phenylketonuria (PKU) is a rare inherited disease characterized by an inability to utilize an amino acid called Phe. The disease is caused by a gene mutation and equally affects males and females. If left untreated, patients may have severe neurological complications including irreversible cognitive ability. Current therapy includes lowering blood Phe. Neurological complications can be prevented if treatment is started as soon as the patient is born. In this study, SYNB1934v1 (a genetically modified substance) will be tested to enhance degradation of Phe in adult participants. The study is divided into 3 parts, which will be explained to the participant during informed consent. 

Email: CRU@chkd.org
Phone: (757) 668-5416

Coffin-Siris syndrome and other BAF-related phenotypes

Condition: Coffin-Siris Syndrome

Type of Research: Observational
Principal Investigator: Samantha Vergano, MD

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.

Email: CRU@chkd.org
Phone: (757) 668-5416

Rare Disease Registry

Conditions: Pompe, Fabry, Gaucher, MPS1

Type of Research: Observational
Principal Investigator: Samantha Vergano, MD

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. 

Email: CRU@chkd.org
Phone: (757) 668-5416