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Current Research Studies & Registries for Patients with Lysosomal Storage Diseases
For more information, please call: (404) 778-8565 or 1-800-200-1524.

Fabry Disease
Evaluating Depression in Fabry Disease as Compared to Gaucher Disease
Assessment of the Psychiatric Manifestations of Fabry Disease and Type 1  Gaucher Disease Utilizing the Adult Achenbach System of Empirically Based Assessment Questionnaires
Psychiatric conditions, like depression, are reported to disproportionally affect individuals affected with some chronic diseases.  In this study we use 2 questionnaires to quantify the psychiatric functioning of individuals affected by FD and GD.  The questionnaires are a self-report form to be completed by an affected individual and a behavior checklist to be completed by a family member or close friend.  Data from the questionnaires will provide information on the type and frequency of psychiatric issues in FD and GD patients.  This is an Emory investigator initiated study.  Enrollment for this study is OPEN.

Chaperone Therapy in Men Affected by Fabry Disease
A Phase 2, Open-Label, Multicenter, 12-Week Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AT1001 in Patients With Fabry Disease.
The purpose of this study is to determine the safety and efficacy of AT1001 (Amigal®) in male Fabry patients.  The study takes place in 3 parts and requires procedures including: clinic visits, blood draws, echocardiogram, EKGs, skin biopsies, and cardiac MRIs.  This is a world-wide, multi-center study sponsored by Amicus Therapeutics.  Enrollment for this study will be OPEN in November 2006. 

Chaperone Therapy in Women Affected by Fabry Disease
A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients With Fabry Disease.
The purpose of this study is to determine the safety and efficacy of AT1001 (Amigal®) in female Fabry patients.  The study takes place in 3 parts and requires procedures including: clinic visits, blood draws, echocardiogram, EKGs, skin/heart/kidney biopsies, and cardiac MRIs.  This is a world-wide, multi-center study sponsored by Amicus Therapeutics.  Enrollment for this study is expected to be open in December 2006. 

Fabry Disease, ERT, and Metabolism:
The Effect of Enzyme Replacement Therapy on Metabolism in Fabry Disease
The purpose of this study is to evaluate the effect of enzyme replacement therapy (ERT) on the metabolism of individuals affected by Fabry Disease (FD).  The specific aims of this study are to: 1) determine the effect of ERT on FD metabolism, 2) quantify the metabolic rate in FD patients as it relates to nutrition and treatment, and 3) gather preliminary data to assist in the development of an evidence based algorithm that will optimize the management of weight gain in FD.  Study assessments will include diet records, questionnaires, BOD-POD, indirect calorimetry, and blood and urine lab tests including amino acids, organic acids, and metabolic chemistries.  This is an Emory investigator initiated study.  Enrollment for this study is expected to open early in 2007.

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. 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 world-wide, multi-center Registry sponsored by Genzyme Therapeutics.  Enrollment for this study is OPEN.

Gaucher Disease, Type 1
Q2Q4 study:
A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients with Type 1 Gaucher Disease.
Most patients with Gaucher disease that are symptomatic receive Cerezyme® infusions once every two weeks. This treatment schedule is considered standard of care. The main purpose of this study is to determine whether the health status of patients with Type 1 Gaucher disease can be maintained if they are given their total 4-week dose of Cerezyme® in one infusion every four weeks (instead of their total 4-week dose split into two infusions, one infusion every two weeks). The study will monitor patient’s health and how they feel on the less frequent infusion schedule and whether this new schedule provides greater convenience for patients and less disruption to their work schedules and personal lives. This is a multicenter study sponsored by Genzyme therapeutics. Enrollment for this study is CLOSED.

SWITCH trial:
A phase IV, open-label, non comparative, multi-center study to evaluate the long- term efficacy, safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type I Gaucher Disease.
This study is designed to determine if the health status of clinically stable patients with Type 1 Gaucher disease stays the same following a switch from Enzyme Replacement Therapy (ERT) to Zavesca® (miglustat).  Zavesca® (miglustat) is currently approved by the Food and Drug Administration for individuals with mild to moderate Gaucher disease for whom ERT is not an option.  The study will monitor patient’s health and how they feel on Zavesca® and whether this new schedule provides greater convenience for patients and less disruption to their work schedules and personal lives. This is a multicenter study sponsored by Actelion Pharmaceuticals. Enrollment for this study is OPEN.

Characterization of Chaperone Therapy in Blood Cell Lines:
A multicenter study to evaluate and characterize the ex vivo effect of pharmacological chaperone therapy in blood cell lines derived from patients with Gaucher Disease.
This study is designed to evaluate the mechanism chaperone utilizes to stabilize β-glucosidase enzyme in a “test tube.”  This response will be matched to specific genetic mutations and to their clinical symptoms via chart review.  The study involves a blood draw and chart review.  This is a multicenter study sponsored by Amicus Therapeutics.  Enrollment for this study is OPEN.

Evaluating Depression in Gaucher Disease as Compared to Fabry Disease
Assessment of the Psychiatric Manifestations of Fabry Disease and Type 1  Gaucher Disease Utilizing the Adult Achenbach System of Empirically Based Assessment Questionnaires
Psychiatric conditions, like depression, are reported to disproportionally affect individuals affected with some chronic diseases.  In this study we use 2 questionnaires to quantify the psychiatric functioning of individuals affected by FD and GD.  The questionnaires are a self-report form to be completed by an affected individual and a behavior checklist to be completed by a family member or close friend.  Data from the questionnaires will provide information on the type and frequency of psychiatric issues in FD and GD patients.  This is an Emory investigator initiated study.  Enrollment for this study is OPEN.

Gaucher Registry:
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. All physicians participating in the Registry are considered members of the International Collaborative Gaucher Group (ICGG). Data collected from ICGG physicians will represent Gaucher disease practice patterns under common clinical conditions. Thus, the data collected by this international, collaborative Registry will provide information to better characterize the natural history and progression of Gaucher disease, as well as the clinical responses of patients whose physicians have prescribed ERT. This is a world wide, multi-center Registry sponsored by Genzyme Therapeutics.  Enrollment for this study is OPEN.

Krabbe A Disease
NBS testing validation trial:
A Genzyme Protocol for Acquisition of Blood Samples for Evaluation, Verification or Validation of Assays for Newborn Screening for Lysosomal Storage Disorders (LSDs)
The study consists of a consent and collection of a blood sample.  The blood sample will be used to develop a newborn screening lab test for testing babies shortly after birth to see if they have one of these disorders.  You cannot participate if you are currently treated with enzyme replacement therapy, an experimental treatment for your lysosomal storage disease, or if you have ever had a bone marrow transplant.  This is a multicenter study sponsored by Genzyme. Enrollment for this study is OPEN.

Mucopolysaccharidosis Type I (MPSI, Hurler, Hurler-Scheie, Scheie)
NBS testing validation trial:
A Genzyme Protocol for Acquisition of Blood Samples for Evaluation, Verification or Validation of Assays for Newborn Screening for Lysosomal Storage Disorders (LSDs)
The study consists of a consent and collection of a blood sample.  The blood sample will be used to develop a newborn screening lab test for testing babies shortly after birth to see if they have one of these disorders.  You cannot participate if you are currently treated with enzyme replacement therapy, an experimental treatment for your lysosomal storage disease, or if you have ever had a bone marrow transplant.  This is a multicenter study sponsored by Genzyme. Enrollment for this study is OPEN.

MPS 1 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. 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 Genzyme Therapeutics. Enrollment for this study is OPEN.

Mucopolysaccharidosis Type II (MPSII, Hunter)

HOS:
A Global, Multi-Center, Long-Term, Observational Survey of Patients with Hunter Syndrome (Mucopolysaccharidosis II) 
The Hunter Outcome Survey is a global, multi-center, long-term, observational survey, which is open to all patients diagnosed with Hunter syndrome.  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 Shire Human Genetic Therapies. Enrollment for this study is OPEN.

Niemann Pick A/B

NBS testing validation trial:
A Genzyme Protocol for Acquisition of Blood Samples for Evaluation, Verification or Validation of Assays for Newborn Screening for Lysosomal Storage Disorders (LSDs)
The study consists of a consent and collection of a blood sample.  The blood sample will be used to develop a newborn screening lab test for testing babies shortly after birth to see if they have one of these disorders.  You cannot participate if you are currently treated with enzyme replacement therapy, an experimental treatment for your lysosomal storage disease, or if you have ever had a bone marrow transplant.  This is a multicenter study sponsored by Genzyme. Enrollment for this study is OPEN.


Pompe Disease (Acid Maltase Deficiency, Glycogen storage disease type II)
LOTS Trial:
Protocol AGLU02704: A Randomized, Double-Blind, Multicenter, Multinational, Placebo-Controlled Study of the Safety, Efficacy, and Pharmacokinetics of Myozyme, Recombinant Human Acid alpha-Glucosidase (rhGAA), Treatment in Patients with Late-Onset Pompe Disease
This research study is being performed to evaluate how safe and effective the replacement enzyme Myozyme® is in patients with late-onset Pompe disease.  The purpose of this study is to evaluate the safety and potential benefit of Myozyme® in patients with late-onset Pompe disease as compared to no treatment (placebo).  This is a multicenter study sponsored by Genzyme. Enrollment for this study is only open to patients also participating at main study sites.

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. 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 Genzyme Therapeutics. Enrollment for this study is OPEN.