Peter I Karachunski

Assistant Professor, Neurology

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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):

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6 Active
35 Finished

Phase 1/2, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease
Whitley, C. B., Jarnes, J. R. & Karachunski, P. I.
SPARK THERAPEUTICS, INC
6/1/20 → 10/1/21
Project: Research project
A Long-term Observational Study Evaluating Eteplirsen in Patients with Duchenne Muscular Dystrophyunder Conditions of Routine Clinical Practice
Karachunski, P. I.
SAREPTA THERAPEUTICS, INC.
10/17/19 → 10/31/23
Project: Research project
Preclinical Studies in Pluripotent Stem Cell-Derived Myogenic Progenitors to Enable a First-in-Human Phase 1 Safety/Dose Escalation Trial for Duchenne Muscular Dystrophy
Perlingeiro, R., Karachunski, P. I., McKenna, D. H., Schumacher, R. J. & Wagner, J. E.
DUCHENNE UK
9/15/19 → 8/31/21
Project: Research project
Protocol No. Ptcemf-gd-004, entitled A multicenter randomized placebo-controlledPhase III study on the safety and efficacy of deflazacort (emflaza) In patients withLimb-girdle muscular dystrophy 2i (lgmd2i)
Karachunski, P. I.
PTC Therapeutics, Inc.
3/8/19 → 9/30/24
Project: Research project
Phase 2 clinical pharmacology study in nmDMD patients to assess dystrophin levels in patients with nmDMD who have been treated with ataluren
Karachunski, P. I.
PTC Therapeutics, Inc.
12/1/18 → 11/30/23
Project: Research project

46 Article
1 Chapter
1 Comment/debate

Nusinersen injections in adults and children with spinal muscular atrophy: A single-center experience
Özütemiz, C., Karachunski, P. I. & Nascene, D. R., 2020, In: Diagnostic and Interventional Radiology. 26, 6, p. 596-602 7 p.
Research output: Contribution to journal › Article › peer-review
1 Scopus citations
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
Wagner, K. R., Abdel-Hamid, H. Z., Mah, J. K., Campbell, C., Guglieri, M., Muntoni, F., Takeshima, Y., McDonald, C. M., Kostera-Pruszczyk, A., Karachunski, P., Butterfield, R. J., Mercuri, E., Fiorillo, C., Bertini, E. S., Tian, C., Statland, J., Sadosky, A. B., Purohit, V. S., Sherlock, S. P., Palmer, J. P. & 4 others, Binks, M., Charnas, L., Marraffino, S. & Wong, B. L., Jun 2020, In: Neuromuscular Disorders. 30, 6, p. 492-502 11 p.
Research output: Contribution to journal › Article › peer-review
2 Scopus citations
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
CINRG Investigators, 2020, (Accepted/In press) In: European Journal of Human Genetics.
Research output: Contribution to journal › Article › peer-review

Open Access
5 Scopus citations
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Segura Castell, M., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S. & Kaya, N., Apr 1 2020, In: Acta Neuropathologica. 139, 4, p. 791-794 4 p.
Research output: Contribution to journal › Article › peer-review

4 Scopus citations
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)
Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P. I., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Aug 1 2019, In: Genetics in Medicine. 21, 8, p. 1899 1 p.
Research output: Contribution to journal › Comment/debate › peer-review