The Emory Genetic Clinical Trials Center is devoted to remaining on the cutting-edge of research and treatment for all genetic diseases and studies open and close quickly. Accordingly, the listing of studies below only serves as an example of our current studies. To learn more about the clinical trials for genetic conditions available at Emory please email the team at
lsd-gctc-l@listserv.cc.emory.edu.
Achondroplasia
Industry Sponsored Trials
Therapy in Babies and Children Living with Achondroplasia
We currently have several studies of BioMarin’s therapy (BMN111) and other sponsors in boys and girls. Enrollment is currently closed for these studies. For more information on our clinical trials for achondroplasia, please contact Allison Foley.
Fabry Disease
Emory Initiated Research
We currently have several studies focused on many aspects of living with Fabry disease. They range from learning more about vision and brain function in Fabry disease to figuring out the impact of treatment of final adult height in Fabry patients. Enrollment for these studies is OPEN.
For more information on our clinical trials for Fabry disease, please contact Dawn Laney at dawn.laney@emory.edu
Industry Sponsored Trials
Gene Therapy Studies in Fabry Disease
We currently have several gene therapy studies in males living with Fabry disease. Enrollment for these studies are OPEN.
Efficacy and Safety of Substrate Reduction Therapy (once daily venglustat pill) in Adult Subjects With Fabry Disease (CARAT and PERIDOT)
These are two studies sponsored by Sanofi and designed to determine the efficacy and safety of oral monotherapy with venglustat in adult subjects with Fabry disease. CARAT is focused on adults with Fabry who have an enlarged left ventricle of their heart and PERIDOT is focused on adults with Fabry who currently have abdominal or nerve pain. Enrollment for these studies are OPEN.
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.
See more information about the registry
Gaucher Disease, Type I
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.
For more information on our clinical trials for Gaucher disease, please contact Val Long at vlong@emory.edu
MPSI
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.
For more information on our clinical trials for MPS I, please contact Gwen Gunn at gggunn@emory.edu
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
PROPEL Study - A Study Comparing ATB200/AT2221 With Alglucosidase/Placebo in Adult Subjects With LOPD
We currently have a study on Late Onset Pompe Disease in adults to see how safe and effective combining a new Enzyme replacement therapy (ATB200) Co-administered with a chaperone therapy (oral AT2221) in adult subjects with Late Onset Pompe Disease is compared to treatment with Lumizyme. This study is sponsored by Amicus Therapeutics. Enrollment in the study is CLOSED.
Pompe Registries
We currently have multiple registries that track the natural history and outcomes of patients with Pompe disease. Participation for most of these studies is open to all patients with Pompe disease. Enrollment for these studies are OPEN. For more information on our clinical trials for Pompe disease, please contact Val Long at vlong@emory.edu
Fragile X
Industry Sponsored Trials
Efficacy and Safety of BPN14770 (twice-daily pill) in Adult Subjects with Fragile X Syndrome
This is a study sponsored by Tetra Therapeutics and designed to determine the safety and efficacy of oral monotherapy with BPN14770 (zatolmilast). This study is focused on male adolescents (9-17 years of age) and male adults (18-45 years of age) with Fragile X syndrome, and its efficacy in improving cognition. Enrollment for this study is OPEN.
CONNECT-FX Trial in Fragile X
We currently have one study of the safety and effectiveness of CBD transdermal gel (ZYN002) in treatment of behavioral symptoms in children ages three through 17 years with Fragile X Syndrome. Enrollment for this study is still OPEN.
For more information on our clinical trials for Fragile X Syndrome, please contact Jean Luan McColl at jean.luan@emory.edu.
Prader-Willi
Efficacy and Safety of Transcutaneous Vagus Nerve Stimulation in Subjects with Prader-Willi Syndrome
This is a study sponsored by the Foundation for Prader-Willi Research and designed to determine the safety and efficacy of Transcutaneous (across the skin) Vagus Nerve Stimulation through an electrode placed in the outer ear. This study is focused on people 10-40 years of age with Prader-Willi Syndrome, and its efficacy in reducing temper outbursts. Enrollment for this study is OPEN.
For more information on our clinical trials for Prader-Willi Syndrome, please contact Jean Luan McColl at jean.luan@emory.edu
Angelman Syndrome
Industry Sponsored Trials
We currently have one study of the safety and effectiveness of OV101 treatment in children and adults with Angelman Syndrome. Enrollment for this study is OPEN for children.