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
