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
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 the effects of cholinesterase inhibitors on cognition and behavior in children and young adults with Down syndrome. Research issues focus on establishing a standard dosing regimen and developing a sensitive and specific test battery to detect changes in language and cognitive ability. These studies are being performed at the Duke Clinical Research Unit at Duke. We are currently involved in a multi-center Phase 2 pediatric trial using donepezil, a cholinesterase inhibitor. The Duke DS Research team is also exploring how a national Down Syndrome registry program could be built and utilized to expand understanding of the condition.
. Lysosomal Storage Disease: The Duke Lysosomal Storage Disease (LSD) treatment center follows and treats patients with Pompe, Gaucher, Fabry, Mucopolysaccharidosis 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.
. 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, 1985
Selected Grants and Awards
- Targeted Therapy for Pompe Disease
- LSD Registry
- Duke CTSA (KL2)
- Duke CTSA (TL1)
- Clinical Pharmacokinetics and Safety Trials in Down Syndrome
- Postdoctoral Training in Genomic Medicine Research
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM)
- Understanding cognitive and neurological pathologies in infantile Pompe disease
- Down Syndrome Clinical Trials Network
- Mini-COMET
- Gene therapy in GSD III dogs
- A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease
- Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease
- Immunophenotyping of infantile Pompe disease
- Shire Treatment Naive Gaucher 1
- Immunosuppression to deplete anti-AAV antibodies
- LTS1390
- 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
- EFC14028 neoGAA (GZ402666)
- Sanofi NeoGAA
- Amicus ATB200-03
- 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
- GAA-iTEM: Personalizing the Prediction of Anti-therapeutic Antibody Response in Pome Disease Patients
- GSD III Clinical Data Manuscript Preparation
- VAL-1221
- Morquio A Registry Study
- ALX-HPP-501 Alexion HPP Registry
- PROMIS
- Pompe Developmental IPAD Study
- ALEXION HPP-SRA
- LDN: CRIM responses in Pompe disease
- Respiratory muscle training in late-onset Pompe disease
- GSD IV Database Study
- Novel Approaches for Correcting Respiratory Insufficiency in Pompe Disease
- Amicus POM -003
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease
- Understanding cognitive and neurological pathologies in infantile Pompe disease
- POM 002
- 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 to improve efficacy of ERT in muscle of Pompe disease mice
- 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
- Amicus ATB200-02 treatment study
- 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
- Roche nondrug study 6-11 years-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
- WP28760 Phase 2a Down Syndrome Study
- The Duke Multidisciplinary Training Program in Pediatric Lung Disease
- Pfizer/ACMG Foundation 2015-2016 Fellowship
- 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
- Alexion retrospective non-interventional natural history study of 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