HeatherAnnLauMD

Child Neurology • New York, NY

Director, NYU Lysosomal Storage Disorders Program

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Office
222 East 41st Street
9th Floor
New York, NY 10017
Phone+1 212-263-7744

Fax+1 212-263-7721
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Education & Training

NYU Grossman School of MedicineFellowship, Child Neurology, 2007
NYU Grossman School of MedicineFellowship, Neurogenetics, 2010 - 2011
NYU Grossman School of MedicineResidency, Child Neurology, 2007 - 2010
Montefiore Medical Center/Albert Einstein College of MedicineResidency, Pediatrics, 2005 - 2007
University of Rochester School of Medicine and DentistryClass of 2005
New York Medical CollegeM.Sc., Biochemistry & Molecular Biology, 1998 - 2001
New York Medical CollegeMS, Biochemistry and Molecular Biology, -, 2001
Cornell UniversityBS, Biology, Honors, 1994 - 1998
Cornell UniversityB.S., General Biology, With honors, 1994 - 1998

Certifications & Licensure

null, NY 2008 - 2025
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology

Awards, Honors, & Recognition

CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2013
Joseph Collins Fellowship for Medical Students University of Rochester School of Medicine & Dentistry, 2001
Research Honor’s Thesis Cornell University, 1998

Clinical Trials

Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Start of enrollment: 2005 Jul 01
Completed
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Start of enrollment: 2009 Nov 01
Completed
Phase 3
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Start of enrollment: 2009 Sep 01
Completed
Phase 3
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Start of enrollment: 2010 Jun 01
Completed
Phase 3
Open-Label Phase 3 Long-Term Safety Study of Migalastat Start of enrollment: 2011 Oct 14
Terminated
Phase 3
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment Start of enrollment: 2010 Aug 01
Active, not recruiting
Phase 1, Phase 2
A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Start of enrollment: 2012 May 01
Completed
Phase 2
Longitudinal Studies of Brain Structure and Function in MPS Disorders Start of enrollment: 2009 Sep 01
Completed
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Start of enrollment: 2015 Mar 14
Completed
Phase 3
A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Start of enrollment: 2014 Sep 01
Completed
Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age Start of enrollment: 2015 Jul 21
Completed
Phase 2
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Start of enrollment: 2015 Nov 10
Completed
Phase 3
Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease Start of enrollment: 2016 Jun 29
Completed
Phase 4
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Start of enrollment: 2015 Sep 01
Recruiting
Phase 2
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Start of enrollment: 2017 May 24
Terminated
Phase 1, Phase 2
Genzyme Osteopenia/Osteoporosis Study Start of enrollment: 2016 Apr 01
Completed
Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Start of enrollment: 2016 Jun 01
Completed
Phase 3
A Natural History Study of Canavan Disease Start of enrollment: 2016 May 01
Completed
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Start of enrollment: 2017 May 11
Terminated
Phase 1, Phase 2
Hunter Outcome Survey (HOS) Start of enrollment: 2005 Oct 03
Completed
Early Access Program With Arimoclomol in US Patients With NPC
Available
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Publications & Presentations

PubMed

Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacem...
Derralynn A Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran> ;Journal of Clinical Medicine. 2023 Jun 13
Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.
Giulietta Maria Riboldi, Heather Lau> ;Tremor and Other Hyperkinetic Movements. 2023 Jan 1
14 citations
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.
Paul Harmatz, Carlos E Prada, Barbara K Burton, Heather Lau, Craig M Kessler, Liching Cao, Marina Falaleeva, Andres G Villegas, Jennifer Zeitler, Kathleen Meyer, Westo...> ;Molecular Therapy. 2022 Dec 7
2 citations
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
Kyriakos Martakis, Jens Claassen, Jordi Gascon-Bayari, Nicolina Goldschagg, Andreas Hahn, Anhar Hassan, Anita Hennig, Simon Jones, Richard Kay, Heather Lau, Susan Perl...> ;Neurology. 2023 Mar 7
4 citations
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).
Derralynn A Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran> ;Journal of Clinical Medicine. 2022 Aug 31
4 citations
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
Heather A Lau, David Viskochil, Pranoot Tanpaiboon, Antonio Gonzalez-Meneses Lopez, Esmeralda Martins, Julie Taylor, Betsy Malkus, Lin Zhang, Agnieszka Jurecka, Debora...> ;Molecular Genetics and Metabolism. 2022 May 1
6 citations
Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.
Giulietta Maria Riboldi, Heather Lau> ;Tremor and Other Hyperkinetic Movements. 2022 Jan 1
8 citations
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm.
John L Jefferies, Alison K Spencer, Heather A Lau, Matthew W Nelson, Joseph D Giuliano, Joseph W Zabinski, Costas Boussios, Gary Curhan, Richard E Gliklich, David G Wa...> ;Orphanet Journal of Rare Diseases. 2021 Dec 20
19 citations
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P. Shankar, Hagit Baris Feldman, Marwan Ghosn, Atul Mehta, Seymour Packman, Heather Lau, Milan Petakov, Sarit ...> ;American Journal of Hematology. 2021 Sep 1
11 citations
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian Eichler> ;Orphanet Journal of Rare Diseases. 2021 May 19
8 citations
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status
Reena V. Kartha, Marcia R. Terluk, Roland Brown, Abigail Travis, Usha Mishra, Kyle Rudser, Heather Lau, Jeanine Jarnes, James C. Cloyd, Neal J. Weinreb> ;Molecular Genetics and Metabolism Reports. 2020 Dec 9
21 citations
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Pramod K. Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, He...> ;Molecular Genetics and Metabolism. 2020 Jul 1
40 citations
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
Hanns Lochmüller, Anthony Behin, Yoseph Caraco, Heather Lau, Massimiliano Mirabella, Ivailo Tournev, Mark A. Tarnopolsky, Oksana Pogoryelova, Catherine Woods, Alexande...> ;Neurology. 2019 Apr 30
Teaching NeuroImages: Scleral thickening and optic disc edema from glycosaminoglycan deposition in Hunter syndrome
Meagan D. Seay, Heather Lau, Steven L. Galetta> ;Neurology. 2019 Mar 26
40 citations
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.
Elena Lukina, Nora Watman, Marta Dragosky, Heather Lau, Elsa Avila Arreguin, Hanna Rosenbaum, Ari Zimran, Meredith C. Foster, Sebastiaan J.M. Gaemers, M. Judith Peters...> ;American Journal of Hematology. 2019 Jan 1
5 citations
Aceruloplasminemia and putaminal cavitation.
Giulietta Riboldi, Kara Anstett, Rajan Jain, Heather Lau, David M. Swope> ;Parkinsonism & Related Disorders. 2018 Mar 7
36 citations
Demographics and patient characteristics of 1209 patients with Gaucher Disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)
Ari Zimran, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Deborah Elstein, Diego Fernandez-Sasso, Pilar Giraldo, Ozlem Goker-Alpan, Heather Lau, Elena Lukina, Zoya Pan...> ;American Journal of Hematology. 2018 Feb 1
16 citations
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
Heather Lau, Nadia Belmatoug, Patrick Deegan, Ozlem Goker-Alpan, Ida Vanessa Doederlein Schwartz, Suma P. Shankar, Zoya Panahloo, Ari Zimran> ;Blood Cells, Molecules & Diseases. 2018 Feb 1
14 citations
Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey.
Patrick Deegan, Diego Fernandez-Sasso, Pilar Giraldo, Heather Lau, Zoya Panahloo, Ari Zimran> ;Blood Cells, Molecules & Diseases. 2018 Feb 1
8 citations
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.
Zohar Argov, Faye Bronstein, Alicia Esposito, Yael Feinsod-Meiri, Julaine Florence, Eileen Fowler, Marcia B. Greenberg, Elizabeth C. Malkus, Odelia Rebibo, Catherine S...> ;Journal of Clinical Neuromuscular Disease. 2017 Sep 1
4 citations
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different ...
Kenneth I. Berger, Barbara K. Burton, Gregory D. Lewis, Mark A. Tarnopolsky, Paul Harmatz, John J. Mitchell, Nicole Muschol, Simon Jones, V. Reid Sutton, Gregory M. Pa...> ;JIMD Reports. 2017 Nov 21
2 citations
Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype
Shashank Agarwal, Rebecca Gilbert, Heather Lau> ;Movement Disorders Clinical Practice. 2016 Mar 11
3 citations
Parental-reported pain insensitivity in Dup15q
Kadi Luchsinger, Heather Lau, Julie Hedlund, Daniel Friedman, Kara Krushel, Orrin Devinsky> ;Epilepsy & Behavior. 2016 Feb 1
31 citations
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomi...
Zohar Argov, Yoseph Caraco, Heather Lau, Alan Pestronk, Perry B. Shieh, Alison Skrinar, Tony Koutsoukos, Ruhi Ahmed, Julia Martinisi, Emil D. Kakkis> ;Journal of Neuromuscular Diseases. 2016 Jan 1
40 citations
Delivery of epilepsy care to adults with intellectual and developmental disabilities.
Orrin Devinsky, Miya R. Asato, Peter Camfield, Eric B. Geller, Andres M. Kanner, Seth Keller, Michael Patrick Kerr, Eric H. Kossoff, Heather Lau, Sanjeev V. Kothare, B...> ;Neurology. 2015 Oct 27
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Journal Articles

Multi-domain impact of elosufase alfa in Morquio A syndrome: assessments of tertiary endpoints from the pivotal phase III trial
Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R Hughes D, Pastores GM, Lau HA, Al-Sayed MD; Raiman J, Jin D, STRIVE Investigat..., Mol Genet Metab, 9/6/2014
Shear-wave ultrasonography evaluation of human skeletal muscle in healthy subjects versus those with GNE-related myopathy
Carpenter E, Lau H, Kolodny E, Adler R, Radiology, 9/1/2014
Branching Enzyme Deficiency: Expanding the Clinical Spectrum
Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S, JAMA Neurol, 11/18/2013
Teaching NeuroImages: Molar tooth sign with hypotonia, ataxia, and nystagmus (Joubert syndrome) and hypothyroidism
Graber, Jerome J; Lau, Heather; Sathe, Swati, Neurology, 12/1/2009
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Books/Book Chapters

Motor Disorders
Chapter: Neurogenetic evaluation of motor disorders
Page 157 - 164Pastores, Gregory M; Lau, Heather AAmerican Association of Neuromuscular and Electrodiagnostic MedicineEdition 3rd,2013
Medlink Neurology
Chapter: Acute hemiplegia of childhood
Lau, H.; Nass, R.; Marquis, BEditors: Gilman S.MedLink Corporation, San Diego, CA2012

Abstracts/Posters

A Controlled PHASE 2 Study of Sialic Acid-extended Release (SA-ER) IN GNE Myopathy
Z. Argov, Y. Caraco, H. Lau, A. Pestronk, P. Shieh, A.M. Skrinar, J. Mayhew, J. Martinisi, E Kakkis, ICNMD, 7/1/2014
Oral Sialic Acid Extended Release (SA-ER) Stabilizes Upper Extremity Muscle Strength in Human GNE Myopathy: A Phase 2 Study
Z. Argov, MD, Y. Caraco, MD, H. Lau, MD, A. Pestronk, MD, P. Shieh, MD, A. M. Skrinar,J. Mayhew, J. Martinisi and E. Kakkis, MD Ph.D., AAN, 5/1/2014
Longitudinal studies of brain structure and function in MPS disorders: a study of the lysosomal disease network
Shapiro, Elsa; Delaney, Kathleen; King, Kelly; Nestrasil, Igor; Ahmed, Alia; Raiman, Julian; Harmatz, Paul; Lau, Heather; Shankar, Suma; Cowan, Morton; Whitley, Chester B, Molecular genetics & metabolism, 1/1/2014
Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
Mayhew, J. E.; Skrinar, A. M.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, J.; Fowler, E.; Greenberg, M.; Malkus, E.; Rebibo, O.; Siener, C.; Caraco, Y.;..., Neuromuscular disorders, 10/1/2013
GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence
Skrinar, A. M.; Argov, Z.; Caraco, Y.; Kolodny, E.; Lau, H.; Pestronk, A.; Shieh, P.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, J.; Fowler, E.; Greenbe..., Neuromuscular disorders, 10/1/2013
Characterization of Strength and Function in Adults with Inclusion Body Myopathy (HIBM)/GNE Myopathy
J.E. Mayhew, A.M. Skrinar, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Malkus, O. Rebibo, C. Siener, Y. Caraco, E. Kolodny, H..., World Muscle Society Congress, 1/1/2013
. GNE Myopathy Functional Activity Scale (GNEM-FAS): Development of a Disease-Specific Instrument for Measuring Function and Independence
A. M. Skrinar, Z. Argov, Y. Caraco, E. Kolodny, H. Lau, A. Pestronk, P. Shieh, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Ma..., World Muscle Society Congress, 1/1/2013
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Lectures

Randomized controlled phase 2 study of GNE myopathy subjects treated with placebo, 6g or 3g doses of extended-release sialic acid (SA-ER) and an extension study at a ...
Berlin - 10/11/2014
GNE-related myopathy: Clinical presentation Of 16 Patients and Discussion of Emerging Therapies
1/1/2014
Spectrum of disease in Canavan
1/1/2014
CNV in Epilepsy
1/1/2014
Epilepsy in Adults with Intellectual and Developmental Disabilities: Genetics
1/1/2014
Case presentation of Niemann Pick Type C
1/1/2013
Hunter Syndrome: Patient Perspective and Overview Overview of Clinical Presentation, Diagnosis and Management
1/1/2013
Neurological Manifestations of Fabry Disease throughout the lifespan
1/1/2013
Phenotypic Variation of X-linked Adrenoleukodystrophy And Current Treatment Strategies
1/1/2012
Metachromatic Leukodystrophy Spectrum of Disease
1/1/2012
Epileptic Channelopathies: Spectrum of SCN1A Mutations
1/1/2012
Diagnosing Canavan Disease: Clinical and Laboratory Dilemmas
1/1/2011
Neurogenetics: Case Presentation (Overview and Approach to Diagnosis of Vanishing White Matter Disease)
1/1/2011
Neurogenetics Case Presentation: The Approach to the Hypotonic Infant
1/1/2011
Phenotypic Variation of GBE1 Deficiency Within One Family
1/1/2011
GM1 Gangliosidosis: Overview and Emerging Treatment Strategies
1/1/2010
Neurogenetics: Case Presentation (Overview and Approach to Diagnosis of Spinal Bulbar Muscular Atrophy)
1/1/2010
Dysautonomia in AIDP
1/1/2009
Neuronal Ceroid Lipofuscinosis: Case Presentation And Review of NCL Types
1/1/2009
Neurologic Manifestations of Methotrexate Toxicity
1/1/2008
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Press Mentions

How Stephen Hawking Was Able to Live for so Long with ALSMarch 14th, 2018
Ultragenyx’s Gene Therapy Ameliorates Pediatric Neurodegenerative DisorderFebruary 8th, 2024

Professional Memberships

American Academy of Neurology - AAN
Member