International research

It is important to know that the research mentioned here has not been tested specifically for HNPP on patients.
Do not try these at home!

HNPP specific

Wisdom teeth needed (2024)
(CMT1A and HNPP)

https://blog.vib.be/the-woman-and-science-behind-an-incurable-disease

Professor Dr Esther Wolfs from the Biomedical Research Institute (BIOMED) of Hasselt University (Belgium) is looking for wisdom teeth from both patients with CMT1A and HNPP. She is able to convert stem cells from wisdom teeth into Schwann cells. "That is quite unique because few cells suit this purpose. Thanks to this discovery we are now able to imitate the genetic background of the disease. Our initial results look very promising: we can imitate the genetic defect in the Schwann cells." (Source: https://issuu.com/vubrussel/docs/impactbrochure_eng_def/s/21175664)

You can contact her by email esther.wolfs@uhasselt.be
or by phone (Belgian number): +32 (0)11269296 (https://www.uhasselt.be/nl/wie-is-wie/detail/esther-wolfs)

Her department covers for the costs of the transport of the wisdom teeth.

Rarebase

www.hnf-cure.org/triad/3-new-drug-development-projects

Hereditary Neuropathy Foundation:
Rarebase is a public benefit biotech company focused on accelerating therapy development for rare diseases with its tech-enabled drug discovery platform called “Function”. Rarebase will screen a compound library of thousands of FDA-approved drugs and novel drugs, targeting 10 mutations of CMT. 

First stage had been performed. No results have been published yet.

Biomarker development in people with HNPP (MD Jun Li)

PAK1 inhibitor (MD Jun Li)

HNPP mice were treated with PAK1 inhibitor, what prevented the progression of nerve conduction failure and HNPP pathology.

Source: www.ncbi.nlm.nih.gov/pmc/articles/PMC5008806/ : Hu B, Arpag S, Zhang X, Möbius W, Werner H, Sosinsky G, Ellisman M, Zhang Y, Hamilton A, Chernoff J, Li J. Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP. PLoS Genet. 2016 Sep 1;12(9):e1006290. doi: 10.1371/journal.pgen.1006290. PMID: 27583434; PMCID: PMC5008806.

Niacin/Niaspan  (Alessandra Bolino)

2023:  REPOSITIONING OF NIACIN/NIASPANÒ FOR THE THERAPY OF CHARCOT-MARIE-TOOTH NEUROPATHIES WITH FOCAL HYPERMYELINATION
https://iris.unisr.it/handle/20.500.11768/136960: https://hdl.handle.net/20.500.11768/136960 Riposizionamento del farmaco Niaspan (Niacina) per il trattamento di neuropatie Charcot-Marie-Tooth caratterizzate da ipermielinizzazione focale / Silvia Cipriani , 2023 Jan 19. 35. ciclo, Anno Accademico 2021/2022. 


2016: "Here we show that in vivo delivery of Niaspan, a FDA-approved drug known to enhance TACE activity, efficiently rescues myelination in the Mtmr2-/- mouse, a model of CMT4B1 with myelin outfoldings, and in the Pmp22+/- mouse, which reproduces HNPP (hereditary neuropathy with liability to pressure palsies) with tomacula. "
Source: https://pubmed.ncbi.nlm.nih.gov/27799291/: Bolino A, Piguet F, Alberizzi V, Pellegatta M, Rivellini C, Guerrero-Valero M, Noseda R, Brombin C, Nonis A, D'Adamo P, Taveggia C, Previtali SC. Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. EMBO Mol Med. 2016 Dec 1;8(12):1438-1454. doi: 10.15252/emmm.201606349. PMID: 27799291; PMCID: PMC5167133.

Progresterone (failed)

(2020) https://ediss.uni-goettingen.de/handle/21.11130/00-1735-0000-0005-1341-C
Experimental therapy with progesterone on a mouse model for hereditary neuropathy with liability to pressure palsies, Heidi Granat, 2019, Max-Planck-Instituts für Experimentelle Medizin in Göttingen
(2003) https://pubmed.ncbi.nlm.nih.gov/14608378: Sereda MW, Meyer zu Hörste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med. 2003 Dec;9(12):1533-7. doi: 10.1038/nm957. Epub 2003 Nov 9. PMID: 14608378.


Related research

Resveratrol

https://pubmed.ncbi.nlm.nih.gov/33239684/
Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study: Kawamura K, Fukumura S, Nikaido K, Tachi N, Kozuka N, Seino T, Hatakeyama K, Mori M, Ito YM, Takami A, Hinotsu S, Kuno A, Kawasaki Y, Horio Y, Tsutsumi H. Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study. Sci Rep. 2020 Nov 25;10(1):20585. doi: 10.1038/s41598-020-77197-6. PMID: 33239684; PMCID: PMC7688653.

Curcumin

https://pubmed.ncbi.nlm.nih.gov/32980538/  Curcumin-cyclodextrin/cellulose nanocrystals improve the phenotype of Charcot-Marie-Tooth-1A transgenic rats through the reduction of oxidative stress
Caillaud M, Msheik Z, Ndong-Ntoutoume GM, Vignaud L, Richard L, Favreau F, Faye PA, Sturtz F, Granet R, Vallat JM, Sol V, Desmoulière A, Billet F. Curcumin-cyclodextrin/cellulose nanocrystals improve the phenotype of Charcot-Marie-Tooth-1A transgenic rats through the reduction of oxidative stress. Free Radic Biol Med. 2020 Dec;161:246-262. doi: 10.1016/j.freeradbiomed.2020.09.019. Epub 2020 Sep 25. PMID: 32980538.


Farnesol

https://charcot-marie-toothnews.com/news/farnesol-component-essential-aids-myelin-cmt1a-mouse-model/ Farnesol, Part of Essential Oils, aids Myelin in CMT1A Mouse Model

https://www.mdpi.com/1467-3045/43/3/138
Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A
Park NY, Kwak G, Doo HM, Kim HJ, Jang SY, Lee YI, Choi BO, Hong YB. Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A. Curr Issues Mol Biol. 2021 Nov 13;43(3):2011-2021. doi: 10.3390/cimb43030138. PMID: 34889893; PMCID: PMC8928981.

Theophyline

https://charcot-marie-toothnews.com/news/theophylline-enhances-myelin-production-cmt1a-mouse-study/  Theophylline Enhances Myelin Production in CMT1A Mice
Duman M, Jaggi S, Enz LS, Jacob C, Schaeren-Wiemers N. Theophylline Induces Remyelination and Functional Recovery in a Mouse Model of Peripheral Neuropathy. Biomedicines. 2022 Jun 15;10(6):1418. doi: 10.3390/biomedicines10061418. PMID: 35740439; PMCID: PMC9219657.