NYU Langone’s Division of Neurogenetics is dedicated to advancing our knowledge through original basic science, translational research, and clinical trials. Our researchers study the biology, diagnosis, and treatment of genetic disorders of the nervous system. Among our current areas of research are the following.
The following clinical trials are underway in the Division of Neurogenetics.
Open-Label Extension Study of the Long-Term Effects of Migalastat HCl in Patients with Fabry Disease
This study assesses the long-term safety of migalastat HCl in the treatment of subjects with Fabry disease who completed treatment in a previous study of migalastat HCl. View full clinical trial information.
Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function (BALANCE)
The purpose of this trial is to evaluate the safety and efficacy of PRX-102 compared to agalsidase beta in Fabry disease patients with impaired renal function. View full clinical trial information.
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
The primary objective of this study is to characterize oxidative stress and inflammation in the blood and brain of individuals with type 1 Gaucher disease (GD1) and determine whether these factors can be altered with orally administered N-acetylcysteine. View full clinical trial information.
Study of the Effect of Velaglucerase Alfa (VPRIV) on Bone-Related Pathology in Treatment-Naive Patients with Type 1 Gaucher Disease
The primary objective is to evaluate the effect of VPRIV® therapy (60 U/kg EOW) in treatment-naive patients with type 1 Gaucher disease on change from baseline in lumbar spine bone mineral density Z-score as measured by dual-energy x-ray absorptiometry after 24 months of treatment. View full clinical trial information.
Study of Long-Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Patients Who Have Completed Study HGT-HIT-094
This study evaluates long-term safety in patients with Hunter syndrome and cognitive impairment who are receiving intrathecal idursulfase IT and intravenous Elaprase® enzyme replacement therapy. View full clinical trial information.
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects with MPS II
The primary objective of this study is to evaluate the safety and tolerability of SB-913. View full clinical trial information.
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects with MPS I
This trial’s primary objective is to evaluate the safety and tolerability of SB-318. View full clinical trial information.
Mucopolysaccharidosis VII Disease Monitoring Program
The objectives of this trial are to characterize mucopolysaccharidosis VII (MPS VII) disease presentation and progression; assess long-term effectiveness and safety of vestronidase alfa, including hypersensitivity reactions and immunogenicity; and prospectively investigate longitudinal change across biomarker(s), clinical assessments, and patient/caregiver-reported outcome measures in a representative population. View full clinical trial information.
Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients with Late-Onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease (COMET)
This study’s primary objective is to determine the effect of neoGAA treatment on respiratory muscle strength as measured by forced vital capacity percent predicted in the upright position, as compared with alglucosidase alfa. View full clinical trial information.
The following longitudinal studies are underway in our division.
Longitudinal Studies of Brain Structure and Function in MPS Disorders
This longitudinal study aims to identify abnormalities of central nervous system structure and function (including emotional–social characteristics) in both treated and untreated patients with mucopolysaccharidosis (MPS) disorders and to track disease progression over time. View full study information.
The prevalence studies below are in progress in our division.
Genzyme Osteopenia/Osteoporosis Study
The purpose of this study is to estimate the population prevalence of Gaucher disease among patients with low bone mineral density by calculating the prevalence of Gaucher disease among a sample of patients referred for dual-energy X-ray absorptiometry, who were found to have a T-score below −1.0. View full study information.
We are actively creating and maintaining the following registries.
National Tay-Sachs and Allied Diseases (NTSAD): Canavan
Prime objectives of this registry are to enhance the understanding of phenotypic variability, to further define the relationship between genotype and phenotype, and to delineate the progression and natural history of subjects with Canavan disease (CD) through the creation of an electronic database to gather data prospectively. In trying to achieve these objectives, we hope to provide the medical community treating subjects with CD with recommendations for monitoring and managing subjects to optimize subject care and define and categorize clinical endpoints that may be used for development of clinical therapeutic trials.
The Natural History and Treatment of Gaucher Disease Sub-Study 1: A Multimember Study of the Efficacy of Cerezyme in Treating Skeletal Disease in Patients with Type I Gaucher Disease (RC 96-1101) and Sub-Study 2: The Natural History and Treatment of Gaucher (LSD Registry)
The objectives of this registry program are to enhance the understanding of the variability, progression, and natural history of these diseases with the ultimate goal of better guiding and assessing therapeutic intervention; to assist the medical community treating patients with these diseases with recommendations for monitoring patients and reports on patient outcomes to optimize patient care; and to evaluate the long-term safety and effectiveness of enzyme replacement therapy.
Gaucher Disease Outcome Survey (GOS)
The Gaucher Disease Outcome Survey registry’s primary objective is to monitor the long-term safety and effectiveness of velaglucerase alfa (VPRIV®) in patients with Gaucher disease. View full registry information.
A Multicenter Extension Study of Taliglucerase Alfa in Adult Patients with Gaucher Disease
The primary objective of this registry is to characterize the safety profile of taliglucerase alfa through the solicited collection and summary of nonserious and serious adverse event data. View full registry information.
Hunter Outcome Survey (HOS)
The Hunter Outcome Survey registry’s purpose is to monitor the long-term safety and effectiveness of enzyme replacement therapy with Elaprase® in patients with Hunter syndrome. View full registry information.
Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
The purpose of this registry is to further characterize the natural progression of mucopolysaccharidosis (MPS) VI disease, irrespective of treatment modality and to evaluate efficacy and safety treatment with galsulfase. View full registry information.
A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)
This registry primarily aims to characterize and describe the mucopolysaccharidosis IV type A (MPS IVA) population as a whole, including the heterogeneity, progression, and natural history of MPS IVA. View full registry information.
Our division is also developing the following questionnaires related to neurogenetic diseases.
Qualitative Interviews for the Adaptation/Development and Validation of a Questionnaire Specific to Gaucher Disease
The overall objective of this project is to further develop, adapt, and test the face and content validity of the Gaucher disease questionnaire. View more information.
To learn more about our research or to enroll in a study, please contact Patrinia Hawthorne at firstname.lastname@example.org, or call 929-455-5110.