Priya Sunil Kishnani, MBBS
RESEARCH INTERESTS
A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to:
1) An understanding of the natural history and delineation of long term complications of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal disorders witha special focus on Pompe disease, Down syndrome and hypophosphatasia
2) The development of new therapies for genetic disorders through translational research
3) The development and execution of large multicenter trials to confirm safety and efficacy of potential therapies
4) Role of antibodies/immune response in patients on therapeutic proteins.
. Down syndrome: The Duke Comprehensive Down syndrome (DS) clinic is a multidisciplinary clinic for the clinical care of approximately 700 children and young adults with Down syndrome. Research interests include establishing best practices for screening of celiac disease, thyroid dysfunction, and iron deficiency anemia. The Duke DS Research Team is evaluating Down syndrome disintegrative disorder (DSDD) and treatments to help with the clinical manifestations of this. We are also working closely with immunology to understand the pathophysiology of DSDD.
. Lysosomal Storage Disease: The Duke Lysosomal Storage Disease (LSD) treatment center follows and treats patients with Pompe, Gaucher, Fabry, Mucopolysaccharidosis, Niemann Pick, LAL-D and other LSD's. The Duke Metabolism Clinical Research Team is exploring many aspects of enzyme replacement therapy (ERT), including impact on different systems, differential response, and long term effects. Other symptomatic and treatment interventions for this category of diseases are also being explored in the context of clinical care. The care team has extensive experience in the care of infants and adults with Pompe disease and was instrumental in conducting clinical trials and the bench to bedside work that led to the 2006 FDA approval of alglucosidase alfa, the first treatment for this devastating disease. We are currently focusing on role of antibodies/immune response on patient outcome and role of immunemodulation/immunesuppression as an adjunct to ERT.
. Glycogen Storage Disease: We are actively following subjects with all types of Glycogen Storage Disease, with particular emphasis on types I, II, III, IV, VI and IX. The goal of the treatment team is to better determine the clinical phenotype and long term complications of these diseases. Attention to disease manifestations observed in adulthood, such as adenomas and risk for HCC, is of paramount importance in monitoring and treating these chronic illnesses. We are establishing clinical algorithms for managing adenomas, and the overall management of these patients including cardiac, bone, muscle and liver issues. A special focus is an Omics approach including metabolomics and immune phenotyping.
. Hypophosphatasia: We follow a large cohort of patients with HPP. The goal is to understand the features of the disease beyond bone disease, development of biomarkers and immune responses in HPP
. Neuromuscular disorders: We are collaborating with neurologists, cardiologists and neuromuscular physicians to serve as a treatment site for clinical trials in these diseases. We are currently involved in trials of DMD and are working closely on setting up collaborations for studies in SMA.
Education and Training
- M.B.B.S., University of Bombay, St. Xavier College (India), 1985
Selected Grants and Awards
- A PHASE 3 OPEN-LABEL EXTENSION STUDY TO ASSESS THE LONG-TERM SAFETY AND EFFICACY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE
- Targeted Therapy for Pompe Disease
- LSD Registry
- Duke CTSA (TL1)
- Clinical Pharmacokinetics and Safety Trials in Down Syndrome
- Medical Scientist Training Program
- Amicus ATB200+-04
- Down Syndrome Clinical Trials Network
- An open-label ascending dose cohort study to assess the safety,
pharmacokinetics, and preliminary efficacy of neoGAA (GZ402666) in patients with
infantile-onset Pompe disease treated with alglucosidase alfa who demonstrate
clinical decline - Gene therapy by Lipid Nanoparticle-Mediated Delivery of Agl Messenger RNA in GSD III dogs
- Method development and data validationfor MPS I
- Method development and data validationfor MPS II
- Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease
- Postdoctoral Training in Genomic Medicine Research
- Immunophenotyping of infantile Pompe disease
- A PHASE 3 DOUBLE-BLIND RANDOMIZED STUDY TO ASSESS THE EFFICACY AND SAFETY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE COMPARED WITH ALGLUCOSIDASE ALFA
- An Open-label, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of Intravenous Infusions of ATB200 Alone and ATB200 Co-administered with Oral AT2221 in Adu
- Morquio A Registry Study
- An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of
Treatment with Velaglucerase alfa on Bone-related Pathology in
Treatment-naive Patients with Type 1 Gaucher Disease - An observational, longitudinal prospective, long-term registry of patients with hypophosphatasia
- A study of patient -reported health masures in adult patients with Pompe disease
- Pompe Developmental IPAD Study
- Feasibility of using Bortezomib-based immunosuppressive approach to deplete anti-AAV antibodies in mice
- Optimized GAA (GAA) as potentially improved therapeutic for the treatment of Pompe disease
- eLLiPSIS¿A Longitudinal, Observational Study to Examine the Measurement Characteristics of the Pompe Disease
Symptom Scale and the Pompe Disease Impact Scale - A Prospective Safety Sub-Registsry to Assess Anaphylaxis and Severe Allegric Reactions and Severe Cutaneious and Systemic Immune-mediated Reactions with Alglucosidase Alfa Treatment
- GSD III Clinical Data Manuscript Preparation
- Long Term Follow-up and Treatment Outcomes for Individuals with Pompe Disease
- Developing a management approach for patients with the "late-onset" Pompe disease GAA variant identified by newborn screening
- Biomarker studies in plasma from patients with Gaucher disease
- A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease
- A Phase 3, Randomized, Multicenter, Multinational, Double-Blinded Study Comparing the Efficacy and Safety of Repeated Bi-Weekly Infusions ff neoGAA (GZ402666) and Alglucosidase Alfa in Treatment Naive Patients With Late Onset Pompe Disease"
- Sanofi NeoGAA
- GAA-iTEM: Personalizing the Prediction of Anti-therapeutic Antibody Response in Pome Disease Patients
- A Three-month, Randomized, Parallel Active Control, Single and Repeat Dose, Dose-escalation Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of VAL-1221 Delivered Intravenously (IV) in Ambulatory and Vent
- A longitudinal retrospective chart review of adults with HPP treated with asfotase alfa
- LDN: CRIM responses in Pompe disease
- Respiratory Muscle Training in Individuals With Pompe Disease
- GSD IV Database Study
- Novel Approaches for Correcting Respiratory Insufficiency in Pompe Disease
- A Prospective Non-interventional Study in Subjects with Late-onset Pompe Disease who are Currently Being Treated with Enzyme Replacement Therapy
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease
- Understanding cognitive and neurological pathologies in infantile Pompe disease
- A Retrospective Characterization of Response to Enzyme Replacement Therapy in Late-onset Pompe Disease
- Preclinical study of use of SVP-Rapamycin to induce immune tolerance to ERT in Pompe disease mice
- Evaluation of the use of Myozyme for treatment of glycogen storage disease type III and IV in murine disease models
- Duke Research Training Program for Pediatricians
- Liver-specific knockdown of M6PR with RNAi therapeutics to increase enzyme delivery to muscle tissues of Pompe disease mice during ERT
- Alexion Adult HPP PK Study
- Role of Whole Body MRI as a Non-Invasive Technique for Characterizing Disease and Treatment Efficacy in Infantile Onset Pompe disease
- AN OPEN-LABEL, ASCENDING-DOSE, FIRST-INHUMAN
STUDY TO ASSESS THE SAFETY,
TOLERABILITY, AND PHARMACOKINETICS OF
INTRAVENOUS INFUSIONS OF ATB200 ALONE
AND ATB200 CO-ADMINISTERED WITH ORAL
AT2221 IN ADULT SUBJECTS WITH POMPE
DISEASE - Identification of candidate genes for Pompe disease phenotype modifier genes
- In vivo efficacy studies of Fab-GAA treatment for GSDII, III, and IV in murine disease models
- A Multicenter, longitudinal, non-drug study to assess the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in children with Down syndrome BP29589.
- To test the ability of SVP to prevent immune response in Pompe disease mouse model.
- Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease
- Long-Term registry of patients with urea Cycle Disorders (UCD) HPN-100-014
- A randomized, double-blind, placebo-controlled, parallel group 26-week dose-investigating study to explore the pharmacokinetics, pharmacodynamic effects, efficacy, safety and tolerability of RO5186582 in children with Down syndrome aged 6-11 years.
- The Duke Multidisciplinary Training Program in Pediatric Lung Disease
- Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars 2015-2016 Fellowship Award
- Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease
- UNC-Duke Collaborative Clinical Pharmacology Postdoctoral Training Program
- Phase 3 BMN 701 in rhGAA Exposed Subjects with Late-Onset Pompe Disease
- Phase 2 Study of Efficacy, Safety and Tolerability of R05186582 in Adults with Adolescents with Down Syndrome (Clematis)
- Roche Phase 2 Screening Study
- Novel strategy for diagnosis of Pompe patients using next generation sequencing technologies
- Institutional Training Grant in Pediatric Cardiology
- Late Onset Pompe Disease Patient Meeting 2015
- A retrospective, non-interventional, epidemiologic study of the natural history of patients with juvenile-onset hypophosphatasia (HPP)
- Lysosomal Disease Network Fellowship
- Clinical Trial Planning in Pompe Disease
- CTSA UL
- Mechanisms for immune tolerance in Pompe Disease
- A Clinical Trial of Donepezil for Down Syndrome