Grants per year
Personal profile
Research Interests
Dr. Nancy Kuntz is a child neurologist with additional board certifications in Pediatrics, Electrodiagnostic Medicine and Autonomic Medicine. Dr. Kuntz joined the Departments of Pediatrics and Neurology at Northwestern Feinberg School of Medicine in December 2009 and is Medical Director of the Mazza Foundation Neuromuscular Disorders Program, the PPMD Duchenne Care Center and the MDA Care Center at Lurie Children’s. Before relocating to Chicago, Dr. Kuntz was part of the Department of Neurology at Mayo Clinic Rochester where she did her training in child neurology and clinical electromyography and developed experience treating neuromuscular disorders in children. Dr. Kuntz is interested in the development of less invasive methods of neuromuscular diagnosis in children and serves as site Principal Investigator in a number of clinical treatment trials for neuromuscular disorders in children.
Clinical evaluation methodology and clinical treatment trials of disorders of the motor unit are my primary areas of interest. These include disorders of peripheral nerve, neuromuscular junction and muscle. Characterization of autonomic nervous system in children and adolescents is an integral part of this effort.
Treatment of neuromuscular and autonomic disorders in infants, children and adolescents. Support of comprehensive, multidisciplinary, family-centered care. Continued development of understanding of neuroimmunologic contribution to these clinical disorders.
Certifications and Licenses
Autonomic Medicine | |
Electrodiagnostic Medicine | |
Pediatrics | |
Child Neurology |
Training Experience
1977 | Residency, Johns Hopkins Hospital |
1980 | Fellowship, Mayo Medical School |
1982 | Fellowship, Mayo Medical School |
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
MD, Medicine, Boston University
… → 1975
Research interests keywords
- Autoimmunity
- Autonomic Medicine
- Clinical Neurophysiology
- Clinical Research
- EMG
- Neuromuscular Disorders
- Pediatric Neurology
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
DEVOTE 232SM203: Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy
Kuntz, N. L. (PD/PI)
3/27/20 → 8/31/50
Project: Research project
-
An Open-Label, Expanded Access Protocol for Boys with Duchenne Muscular Dystrophy who Have Completed the Long-Term Extension (VBP15-LTE) or VBP15-004 Studies
Kuntz, N. L. (PD/PI)
1/8/20 → 8/31/50
Project: Research project
-
A Long-term Follow-up Study of Patients in the Clinical Trials forSpinal Muscular Atrophy Receiving AVXS-101
Kuntz, N. L. (PD/PI)
10/29/19 → 8/31/50
Project: Research project
-
SRK-015-002: PHASE 2 ACTIVE TREATMENT STUDY TO EVALUATE THE EFFICACY AND SAFETY OF SRK-015 IN PATIENTS WITH LATER-ONSET SPINAL MUSCULAR ATROPHY (TOPAZ)
Kuntz, N. L. (PD/PI)
6/6/19 → 8/31/50
Project: Research project
-
Sarepta 5051-102: An Open-Label Extension Study for Patients with Duchenne Muscular Dystrophy Who Participated in Studies of SRP-5051
Kuntz, N. L. (PD/PI)
3/26/19 → 8/31/50
Project: Research project
-
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene
Tranel, E. S., McGowan, B., Drackley, A., Epstein, L. G., Rao, V. K., Kuntz, N. L. & Schwaede, A. N., Mar 2024, In: Molecular Genetics and Metabolism Reports. 38, 101051.Research output: Contribution to journal › Article › peer-review
Open Access -
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial
Lawlor, M. W., Schoser, B., Margeta, M., Sewry, C. A., Jones, K. A., Shieh, P. B., Kuntz, N. L., Smith, B. K., Dowling, J. J., Müller-Felber, W., Bönnemann, C. G., Seferian, A. M., Blaschek, A., Neuhaus, S., Foley, A. R., Saade, D. N., Tsuchiya, E., Qasim, U. R., Beatka, M. & Prom, M. J. & 19 others, , Jan 2024, In: EBioMedicine. 99, 104894.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
Dang, U. J., Damsker, J. M., Guglieri, M., Clemens, P. R., Perlman, S. J., Smith, E. C., Horrocks, I., Finkel, R. S., Mah, J. K., Deconinck, N., Goemans, N. M., Haberlová, J., Straub, V., Mengle-Gaw, L., Schwartz, B. D., Harper, A., Shieh, P. B., De Waele, L., Castro, D. & Yang, M. L. & 24 others, , Feb 9 2024, In: Neurology. 102, 5, e208112.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
Drackley, A., De Simone, L., Kuntz, N., Rahmani, S., Ing, A., Rao, V. K., Rathbun, P. & Yap, K. L., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 53-58 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Findings from the Longitudinal CINRG Becker Natural History Study
Clemens, P. R., Gordish-Dressman, H., Niizawa, G., Gorni, K., Guglieri, M., Connolly, A. M., Wicklund, M., Bertorini, T., Mah, J., Thangarajh, M., Smith, E. C., Kuntz, N. L., McDonald, C. M., Henricson, E., Upadhyayula, S., Byrne, B., Manousakis, G., Harper, A., Iannaccone, S. & Dang, U. J., Jan 2 2024, In: Journal of neuromuscular diseases. 11, 1, p. 201-212 12 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations