Medical Genetics Clinical Trials

Coffin-Siris syndrome and other BAF-related phenotypes – NOW ENROLLING

A clinical registry of individuals with Coffin-Siris syndrome and other BAF-related phenotypes

Protocol, purpose and description: 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.

CHKD physician involved:Samantha Vergano, MD

To learn more about this clinical trial,  contact Samantha Vergano, MD at (757) 668-9723 or Samantha.Vergano@chkd.org


Morquio A (MARS) – NOW ENROLLING

Morquio A Registry Study (MARS)

Protocol, purpose and description:MARS is a multicenter, multinational, observational disease registry for patients diagnosed with Mucopolysaccharidosis Type IVA (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.

CHKD physician involved:Samantha Vergano, MD

Learn more about this study.

Or contact Jennifer Parrott at (757) 668-8244 or Jennifer.Parrott@chkd.org


Rare Diseases Registry – NOW ENROLLING

Rare Diseases Registry Program

Protocol, purpose and description: The Rare Disease Registry Program (including but not limited to, Gaucher, Fabry, MPS I, and Pompe diseases) is a multi-center, international, longitudinal, observational program that tracks the natural history and outcomes of patients with these rare diseases. No experimental intervention is given, thus, a patient will undergo clinical assessments and receive standard of-care treatment as determined by the patient’s physician.  All patients with these diseases are eligible to participate in the Registry Program, regardless of whether they are receiving disease therapy including ERT and irrespective of the commercial product with which they are being treated.

CHKD physician involved:Samantha Vergano, MD

Learn more about this clinical trial by contacting Erika Paradiso at (757) 668-7732 or Erika.Paradiso@chkd.org


Hunter Syndrome (HOS) Registry – NOW ENROLLING

A Global, Multi-Center, Long-Term, Observational Survey of Patients with Hunter Syndrome (Mucopolysaccharidosis II)

Protocol, purpose and description: 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.

CHKD physician involved:Samantha Vergano, MD

Learn more about this study.

Or contact Erika Paradiso at (757) 668-7732 or Erika.Paradiso@chkd.org


Urea Cycle Disorders Registry NOW ENROLLING

Long-Term Registry of Patients With Urea Cycle Disorders (UCDs)

Protocol, purpose and description:This study will track long-term outcomes in UCD patients and effects of ammonia-scavenging agents on neuropsychological functions of UCD patients. This is a non-interventional, multi-center registry in patients with UCDs. Investigators will prescribe treatments based on usual clinical practice, and there will be no restrictions on the use of commercially available medications. As an observational study, this study will not change the patient/ healthcare provider relationship, nor influence the healthcare provider's drug prescription or the therapeutic management of the patient. Patients with UCDs will be recruited and invited to attend a Baseline visit. After eligible patients are enrolled, retrospective and baseline data will be collected. Patients will be followed for up to 10 years, during which time they will be assessed by their healthcare provider. Patients and healthcare provider will be asked to report episodes of hyperammonemic crisis, available ammonia values, and other information.

CHKD physician involved:Samantha Vergano, MD

Learn more about this study.

Or contact Jennifer Parrott at (757) 668-8244 or Jennifer.Parrott@chkd.org