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 for some of these studies is still OPEN while others are closed.
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.
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.
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
Chaperone Therapy in Children Affected by Fabry Disease
We currently have one study of Amicus Therapeutic’s chaperone therapy (AT1001 or migalastat hydrochloride) in 12 to <18 years of age with Fabry disease and amenable GLA variants. Enrollment for this study is OPEN.
See more information about this study
Study of the Effects of Fabrazyme Treatment on Lactation and Infants
The study will last for up to 2 years (24 months). Full participation for both mother and infant is 24 months, full participation of mother and development of infant is 24 months, while full participation of mother and no infant participation is 6 months. Enrollment for this study is OPEN.
See more information about this study
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
In patients with Fabry disease, this research study explores the presence of podocytes in their urine as a potential non-invasive biomarker for baseline kidney disease; and explores changes in the quantity of podocytes in their urine over time as a predictor for kidney disease progression. To accomplish this, the investigators will evaluate the quantification of podocytes in the urine of Fabry disease patients at baseline and longitudinally over time. This study requires a single patient visit, during which the patient provides a urine specimen. The research team will then collect the patient's kidney function data proximate to the time of urine collection, and follow the patient's kidney function data longitudinally over the five years of this study by reviewing their medical charts. The study offers no interventions. Enrollment for this study is OPEN.
See more information about this study
Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function (BALANCE)
This is a randomized, double blind, active control study of PRX-102 (pegunigalsidase alfa) in Fabry disease patients with impaired renal function. Patients treated for approximately 1 year with agalsidase beta and on a stable dose for at least 6 months will be screened and then randomized to continue treatment with 1mg/kg agalsidase beta or to treatment with 1 mg/kg of PRX-102. The identity of the enzyme will be blinded to the patient and the investigator. Patients will receive intravenous infusions every two weeks. Patients will be randomized in a 2:1 ratio of PRX-102 to agalsidase beta. Randomization will be stratified by urinary protein to creatinine ratio (UPCR) of < or ≥ 1 g/g by spot urine sample. No more than 50% of the patients will be female. Enrollment for this study is OPEN.
See more information about this study
Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT)
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase alfa or agalsidase beta for at least 3 years. Safety and efficacy exploratory endpoints will be evaluated throughout the study period and pharmacokinetics will be obtained on Day 1 and Week 52. Enrollment for this study is OPEN.
See more information about this study
Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease (MODIFY)
This study aimed to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. Enrollment for this study is OPEN.
See more information about this study
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.
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.
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
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 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.
Fragile X
Industry Sponsored Trials
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.
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.