Clinical Research Studies

Johns Hopkins LSD Center

Johns Hopkins LSD Center studies chemical compounds, called small molecules that may be used to help treat lysosomal storage diseases (LSDs) and tests several small molecules in different cells from patients with LSDs. They also have in their protocol the collection of clinical and laboratory test data obtained as part of patients’ regular health care to better understand the natural history of LSDs. For these reason, in each clinic visit, they collect blood and urine samples during patients’ regularly scheduled visits, to search for metabolites that may reflect the stage of the disease and response to the different treatments patients with LSDs are be receiving.

MPS IIIA

Surrogate Endpoint Trial (SET) for Individuals with MPS IIIA

The recent protocol amendment now allows for patients greater than one year of age to be eligible for participation.

SET is a one-year, multi-center study designed to study the natural progression of MPS IIIA, in approximately 20 patients.

Over a period of twelve months, participants in the study will be evaluated to assess the severity and progression of MPS IIIA, as measured by developmental age and milestones, central nervous system (CNS) function (including cognition, speech and motor skills) and biochemical markers of the condition (levels of heparan sulfate and its breakdown products in blood urine and cerebrospinal fluid (CSF).

Additional information can be found on www.clinicaltrials.gov (identifier NCT01047306), or contact:

Shire HGT Medical Information or Amy K. Fisher, MS, CGC
Tel: (484) 595-8850   Shire HGT Global Medical Affairs
HGTmedcomm@shire.com   Tel: (857) 413-9553
    afisher@shire.com
 

MPS IIIA & MPS IIIB

This research project will focus on how the immune system is affected in patients with MPS IIIA or MPS IIIB. A blood test will be done to measure blood cell count. To participate, patients must:

Be less than or exactly 20 years of age with a confirmed diagnosis of MPS IIIA or MPS IIIB
Not use medications that suppress the immune system at time of enrollment
Not have respiratory, urinary or other infections at the time of enrollment

The study will take place at your local healthcare providers office or at The Research Institute at Nationwide Childrens Hospital, Columbus, OH. For more information and to make an appointment, contact Chelsea Rankin at 614-355-2897 or Chelsea.rankin@nationwidechildrens.org .

Nationwide Children’s Hospital hosted webinar October 8, 2013 , discussing their MPS IIIA and MPS IIIB program.  The webinar includes information about the MPS IIIA and MPS IIIB Natural History studies, including the rationale, aims, and plans for enrollment, in addition to the proposed schedule for their MPS IIIA and MPS IIIB gene therapy clinical trials.   

MPS IV

MorCAP (MPS IVA, Morquio A Clinical Assessment Program)

MorCAP [Study MOR-001] has been designed to provide a better clinical understanding of the natural history of MPS IVA (Morquio A syndrome) by measuring various aspects of the disorder including endurance and respiratory function in affected patients. These insights may help BioMarin Pharmaceutical Inc. design future clinical studies. Participation in the MorCAP study will require one or more visits yearly to a clinic or hospital for up to 10 years. Experimental drug will not be administered during these visits. MorCAP is a multinational study and includes sites located in the United States, United Kingdom, South America, Canada, Europe and Asia. For further information, please call toll-free 866-961-8212 and a BioMarin representative will respond to your questions regarding MorCAP.