Current Research Studies & Registries for Patients with Lysosomal Storage Diseases

The Emory Lysosomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment for all lysosomal storage diseases.  Accordingly, the listing of studies below only serves as an example of our current studies.  To learn more about the clinical trials available at Emory and other lysosomal storage disease centers across the world, please visit the clinicaltrials.gov website and search by the name of your disease of interest.  For more information about our current clinical research trials, please call us at (404) 778-8565 or 1-800-200-1524.

Multiple LSD Condition Studies

Feelings about Newborn Screening for LSDs

We have a study assessing how patients with Fabry, Gaucher and late-onset Pompe diseases feel about newborn screening for their condition and how a diagnosis as a newborn may have impacted their life.  The study involves completing 2 brief questionnaires and an optional telephone interview.  Enrollment for this study is OPEN. Please contact Emily Lisi, MS CGC at elisi@emory.edu for more information. 

Fabry Disease

Emory Initiated Research

We currently have several studies focused on Past Pregnancy Complications in Women with Fabry Disease and Treating Depression and Adaptive Functioning issues in Fabry Disease.  These depression studies include in person and telephone counseling.  Enrollment for these studies is OPEN. 

Industry Sponsored Trials

Chaperone Therapy in Men and Women Affected by Fabry Disease

We currently have several studies of Amicus Therapeutic’s chaperone therapy (AT1001 or migalastat hydrochloride) in men and women.  Enrollment for most of these studies is closed. 

See more information about chaperone therapy studies at: http://www.clinicaltrials.gov/ct2/results?term=AT1001+Fabry

Enzyme Replacement Therapy in Children Affected by Fabry Disease

We have 1 study assessing the effect of Enzyme Replacement Therapy on lowering fatty build up (GL-3) in skin, plasma, and urine.  One study is only for boys and is sponsored by Genzyme.  Enrollment is closed.

See more information about enzyme replacement therapy studies in children at: http://www.clinicaltrials.gov/ct2/results?term=Fabry+disease+and+children

Fabry Registry Protocol

The Fabry Registry is an ongoing, post marketing observational database that tracks the natural history and outcomes of patients with Fabry disease. Participation is open to all patients with Fabry disease. This is a world-wide, multi-center Registry sponsored by Genzyme Therapeutics.  Enrollment for this study is OPEN.

Enzyme Replacement Therapy Fabry Disease- a new therapeutic enzyme 

Protalix Therapeutics has begun clinical trials with their new enzyme replacement therapy medication in Fabry disease.  Enrollment for this study is OPEN.

See more information about this study at:

http://www.clinicaltrials.gov/ct2/results?term=Protalix+AND+Fabry&Search=Search

Gaucher Disease, Type I

Industry Sponsored Trials

Substrate reduction therapy in Adults affected by Type I Gaucher disease

We currently have several studies of Genzyme’s oral therapy (Eliglustat Tartate or Genz-112638), who have reached therapeutic goals with enzyme replacement therapy. Eliglustat tartrate is a small molecule drug developed as an oral therapy which acts to specifically inhibit production of this storage material in Gaucher cells.  This includes the following studies:

ENCORE- A comparative study of the safety and efficacy of Genz 112638 in patients who have been stabilized with Cerezyme. Enrollment is closed.

EDGE- A study to evaluate the safety and efficacy of Genz 112638 in patients that have demonstated clinical stability on twice daily dosing. Enrollment is closed.

ENGAGE- A study of the effectiveness and safety of Genz-112638 treatment in patients who have not been treated with enzyme replacement therapy. Enrollment is closed.  

Emory research participation

Validating a New Severity Score System for Adults With Type 1 Gaucher Disease(GD1).  The purpose of this study is to evaluate the validity of a new severity score system called DS3 for adult patients with Gaucher disease. The investigators hypothesize that initial DS3 scores will be predictive of both disease progression and patterns of response including imiglucerase dose sensitivity and completeness and maintenance of response and that sequential DS3 scores will accurately portray either clinical progression of disease or improvement in response to treatment. We will also collect DNA specimens that in future research will be used in conjunction with the DS3 scores to evaluate determinants of the clinical course and the response to treatments for Gaucher disease.  This is a multicenter study.  It is enrolling participants by invitation only.

Gaucher Registries

International Collaborative Gaucher Group (ICGG) Gaucher Registry Protocol:
The Gaucher Registry is an ongoing, post-marketing, observational database that tracks outcomes of routine clinical practice for patients with Gaucher disease. It is open to all Gaucher patients. This is a world wide, multi-center Registry sponsored by Genzyme Therapeutics.  Enrollment for this study is OPEN.

GOS

The Gaucher Outcome Survey is a global, multi-center, long-term, observational survey, which is open to all patients diagnosed with Gaucher disease who are not on a clinical research study.  This is a multicenter study sponsored by Shire Human Genetic Therapies. Enrollment for this study is OPEN.

MPS

Emory research participation

Longitudinal Studies of Brain Structure and Function in MPS Disorders: Neuroimaging and Neuropsychology:  The purpose of this study is to obtain a better understanding of the brain basis for the learning difficulties sometimes found in Mucopolysaccharidosis (MPS) I, MPS II, and MPS VI.  Participation will include a brain MRI and neuropsychological testing done once every year for 5 years, blood and urine studies.  The sponsor for this study is the University of Minnesota and National Institute of Health (NIH). Enrollment for this study is OPEN.

MPS Registries

Mucopolysaccharidosis Type I (MPSI, Hurler, Hurler-Scheie, Scheie) Registry Protocol:The MPS I Registry is an ongoing, post marketing observational database that tracks the natural history and outcomes of patients with MPS I disease. Participation is open to all  patients with MPS I disease. This is a multicenter study sponsored by Genzyme Therapeutics. Enrollment for this study is OPEN.

Mucopolysaccharidosis Type II (MPSII, Hunter)

HOS

The Hunter Outcome Survey is a global, multi-center, long-term, observational survey, which is open to all patients diagnosed with Hunter syndrome.  This is a multicenter study sponsored by Shire Human Genetic Therapies. Enrollment for this study is OPEN.

Mucopolysaccharidosis Type VI (MPSVI, Maroteaux-Lamy syndrome)

MPSVI Registry Protocol 

The MPSVI Registry is an ongoing, post marketing observational database that tracks the natural history and outcomes of patients with MPSVI disease. Participation is open to all patients with MPSVIdisease. Physicians are encouraged to collaborate, share observations, and generate hypotheses for evaluation, as well as assist in the collection of clinical data in an effort to guide and assess future therapeutic interventions. This is a multicenter study sponsored by BioMarin. Enrollment for this study is OPEN. 

Pompe Disease

Industry Sponsored Trials

Long term follow up of Pompe Patients on enzyme replacement therapy with Myozyme.

The goal of this study is to collect long-term growth and development and safety data from patients with infantile-onset Pompe disease who begin treatment with Myozyme before one year of age and are then followed for 10 years in this study.  This study is sponsored by Genzyme Therapeutics.  Enrollment in the study is OPEN.

Pompe Registry Protocol

The Pompe Disease Registry is an ongoing, post marketing observational database that tracks the natural history and outcomes of patients with Pompe disease. Participation is open to all patients with Pompe disease. This is a multicenter study sponsored by Genzyme Therapeutics. Enrollment for this study is OPEN.