NancyLynnKuntzMD

Child Neurology • Chicago, IL

Associate Professor in Pediatrics and Neurology, Northwestern University Medical School

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Office
225 E. Chicago Ave
Box 51
Chicago, IL 60611
Phone+1 507-284-2511
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Education & Training

Mayo Clinic College of Medicine and Science (Rochester)Fellowship, Child Neurology, 1977 - 1980
Johns Hopkins UniversityResidency, Pediatrics, 1975 - 1977
Boston University School of MedicineClass of 1975

Certifications & Licensure

IL State Medical License 2009 - 2026
HI State Medical License 1986 - 2024
WI State Medical License 2003 - 2011
MN State Medical License 1999 - 2010
American Board of Pediatrics Pediatrics
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology

Awards, Honors, & Recognition

Super Doctor SuperDoctors.com

Clinical Trials

Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD) Start of enrollment: 2005 Dec 01
Unknown status
Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Start of enrollment: 2010 Feb 01
Completed
Phase 2, Phase 3
Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Start of enrollment: 2012 Apr 01
Unknown status
Finding the Optimum Regimen for Duchenne Muscular Dystrophy Start of enrollment: 2013 Jan 01
Completed
Phase 3
Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping Start of enrollment: 2012 Sep 01
Unknown status
A Study of Tadalafil for Duchenne Muscular Dystrophy Start of enrollment: 2013 Sep 01
Terminated
Phase 3
Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy Start of enrollment: 2014 Apr 17
Completed
Phase 2
A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Start of enrollment: 2014 Aug 19
Terminated
Phase 3
A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Start of enrollment: 2014 Sep 01
Completed
Dose-Titration and Open-label Extension Study of SRP-4045 in Advanced Stage Duchenne Muscular Dystrophy (DMD) Patients Start of enrollment: 2015 Oct 08
Completed
Phase 1
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Publications & Presentations

PubMed

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in thegene.
Elizabeth S Tranel, Bridget McGowan, Andy Drackley, Leon G Epstein, Vamshi K Rao, Nancy L Kuntz, Abigail N Schwaede> ;Molecular Genetics and Metabolism Reports. 2024 Mar 1
Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy.
Brown, L., Hoffman, K., Corbo-Galli, C., Dong, S., Zumpf, K., Weigel, C., Blomgren, C., Munson, H., Bidwell, J., Krosschell, K., Rao, V., Kuntz, N., Schwaede, A.> ;Journal of Clinical Medicine. 2024 Feb 6
6 citations
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Perry B Shieh, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Andreea M Seferian, Laurent Servais, Barbara K Smith, Francesco Muntoni, As...> ;The Lancet. Neurology. 2023 Dec 1
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Hannah E Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S Mithal, Nancy Young, Nancy Kuntz, Vamshi K Rao> ;BMC Medical Genomics. 2023 Nov 6
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
Andy Drackley, Lenika De Simone, Nancy Kuntz, Safa Rahmani, Alexander Ing, Vamshi K Rao, Pamela Rathbun, Kai Lee Yap> ;American Journal of Medical Genetics. Part A. 2024 Jan 1
2 citations
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A Kühn, Herma C van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei...> ;Acta Neuropathologica. 2023 Aug 1
7 citations
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
Richard S Finkel, Basil T Darras, Jerry R Mendell, John W Day, Nancy L Kuntz, Anne M Connolly, Craig M Zaidman, Thomas O Crawford, Russell J Butterfield, Perry B Shieh...> ;Journal of Neuromuscular Diseases. 2023 Jan 1
19 citations
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlova, Vo...> ;JAMA Neurology. 2022 Oct 1
13 citations
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.
Jennifer M Kwon, Kapil Arya, Nancy Kuntz, Han C Phan, Cory Sieburg, Kathryn J Swoboda, Aravindhan Veerapandiyan, Beverly Assman, Silvia Bader-Weder, Travis L Dickendes...> ;Annals of Clinical and Translational Neurology. 2022 Jun 1
3 citations
Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Stacy A. Rudnicki, Jinsy A. Andrews, Tina Duong, Bettina M. Cockroft, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A. Wolff, Angela Genge, Nicholas E. Johnson, Carolina...> ;Neurotherapeutics. 2021 Jul 1
4 citations
Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy
Erik Landfeldt, Joel Iff, E. Henricson, V. Vishwanathan, S. Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, Mar Tulinius, Avital Cnaan, Lauren P. Morge...> ;Value in Health. 2021 Oct 1
4 citations
Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy.
Craig Campbell, Elaine McColl, Michael P. McDermott, William B. Martens, Michela Guglieri, Robert C. Griggs, Volker Straub, Anne-Marie Childs, Emma Ciafaloni, Perry B....> ;Neuromuscular Disorders. 2021 Jun 10
70 citations
Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double-blind, placebo...
Kathryn R. Wagner, Nancy L. Kuntz, Erica Koenig, Lilly East, Sameer Upadhyay, Baoguang Han, Perry B. Shieh> ;Muscle & Nerve. 2021 Jun 8
172 citations
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, ...
John W. Day, Richard S. Finkel, Claudia A. Chiriboga, Anne M. Connolly, Thomas O. Crawford, Basil T. Darras, Susan T. Iannaccone, Nancy L. Kuntz, Loren D M Pena, Perry...> ;The Lancet. Neurology. 2021 Apr 1
18 citations
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Stacy A. Rudnicki, Jinsy A. Andrews, Tina Duong, Bettina M. Cockroft, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A. Wolff, Angela Genge, Nicholas E. Johnson, Carolina...> ;Neurotherapeutics. 2021 Feb 23
131 citations
International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update
Pushpa Narayanaswami, Donald B. Sanders, Gil I. Wolfe, Michael Benatar, Gabriel Cea, Amelia Evoli, Nils Erik Gilhus, Isabel Illa, Nancy L. Kuntz, Janice M. Massey, Art...> ;Neurology. 2021 Jan 19
Outcome Measures for COL6 and LAMA2-Related Dystrophies.
Abigail Nancy Schwaede, Nancy L. Kuntz> ;Pediatric Neurology Briefs. 2020 Dec 4
22 citations
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Sandra Donkervoort, Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic, Jonathan Baets, S. Neuhaus, Jantima Tanboon, Reza Maroofian, Véronique B...> ;American Journal of Human Genetics. 2020 Dec 3
4 citations
Medical management of muscle weakness in Duchenne muscular dystrophy
Sarah R. Rivera, Sumit K. Jhamb, Hoda Z. Abdel-Hamid, Gyula Acsadi, John F. Brandsema, Emma Ciafaloni, Basil T. Darras, Susan T. Iannaccone, Chamindra G. Konersman, Na...> ;Plos One. 2020 Oct 19
36 citations
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study
Edward C. Smith, Laurie S. Conklin, Eric P. Hoffman, Paula R. Clemens, Jean K. Mah, Richard S. Finkel, Michela Guglieri, Mar Tulinius, Yoram Nevo, Monique M. Ryan, Ric...> ;Plos Medicine. 2020 Sep 21
11 citations
The CINRG Becker Natural History Study: Baseline characteristics
Paula R. Clemens, Gabriela Niizawa, Jia Feng, Julaine Florence, Andrea Smith DʼAlessandro, Lauren P. Morgenroth, Ksenija Gorni, Michela Guglieri, Anne M. Connolly, Mat...> ;Muscle & Nerve. 2020 Sep 1
50 citations
Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte.
Perry B. Shieh, Carsten G. Bönnemann, Wolfgang Müller-Felber, Astrid Blaschek, James J. Dowling, Nancy L. Kuntz, Andreea M Seferian> ;Human Gene Therapy. 2020 Aug 17
42 citations
Combination molecular therapies for type 1 spinal muscular atrophy.
Yohei Harada, Vamshi K. Rao, Kapil Arya, Nancy L. Kuntz, Christine J. DiDonato, Galia Napchan‐Pomerantz, Amit Agarwal, Vikki Stefans, Masahisa Katsuno, Aravindhan Veer...> ;Muscle & Nerve. 2020 Jul 25
1 citations
Spinal muscular atrophy: Nature or nurture?
Haluk Topaloglu, Nancy L. Kuntz> ;Neurology. 2020 Jun 8
1 citations
Difficulties classifying myasthenia gravis in the pediatric surgical literature.
Seth D. Goldstein, Nancy L. Kuntz> ;Journal of Pediatric Surgery. 2020 Apr 25
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Press Mentions

Novel Drug May Improve Treatment for Duchenne Muscular DystrophyNovember 9th, 2020
SMA Economic, QoL Burden High in Pre-Treatment EraJune 12th, 2020
Breakthrough Drug Offers Hope for Patients with Debilitating Muscular DiseaseDecember 7th, 2017
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