European CMT Federation

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Pharnext’s press release on CMT in Paris

I this occasion, Professor  David R. Cornblath, expert  in peripheral neuropathies including CMT,and Professor of Neurology at Johns Hopkins University in Baltimore, Maryland, U.S.A., took a stock of the latest scientific and medical advances in CMT, from his diagnosis to the various available therapeutic options. This conference also was the opportunity for Pharnext’s management to come back on outcomes of SYNGILITY® (PXT3003), which is the result of Phase 3 pivotal clinic trial on CMT1A disease treatment.


Vivi in Italia? Ti è stata diagnosticata la #CMT? Unisciti a noi nell’aiutare la ricerca a migliorare il trattamento della malattia partecipando al nostro studio usando il tuo smartphone o tablet.
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#salutedigitale #rara #evidenzamondoreale #genomica #molecola #CMT #CMTandMe Pharnext ACMT Rete per la Charcot Marie Tooth ONLUS European CMT Federation


Leben Sie in Deutschland? Wurde bei Ihnen die Erkrankung #CMT diagnostiziert? Dann unterstützen Sie durch Ihre Teilnahme an unserer Studie mittels der #BYOD Technologie unsere Forschung zur Verbesserung der Behandlung dieser Erkrankung.
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#DigitaleGesundheit #selten #echteNachweise #Genomik #Molekül #CMT #CMTandMe Pharnext European CMT Federation

CMT&Me in Germany and Italy

Is now available, in Germany and in Italy, the free app CMT&Me thanks to which it will be possible to further knowledge of CMT and improve care. Each CMT patient can install the app on his smartphone and fill out questionnaires, record symptoms in a diary, access the knowledge section and much more. Do not miss the opportunity to help research and, at the same time, to better manage your CMT.

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Da oggi è disponibile in Italia e in Germania l’applicazione gratuita CMT&Me grazie alla quale sarà possibile approfondire la conoscenza sulla CMT e migliorarne la cura. Ogni malato CMT può caricarla sul proprio smartphone e compilare questionari, memorizzare i propri sintomi su un diario, accedere ad una pagina di informazioni e altro ancora. Non perdete l’occasione di aiutare la ricerca e, al tempo stesso, di gestire al meglio la vostra CMT.

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InFlectis BioScience IFB-088 enters phase 1 Clinical Trial

Nantes, France – May 22th, 2018.

InFlectis BioScience SAS, a drug discovery company committed to the development of innovative therapeutics harnessing the Integrated Stress Response for the treatment of a broad range of diseases, today announced that the French National Agency for Medicines and Health Products Safety (ANSM) approved the Company’s Clinical Trial Application (CTA) to begin a Phase 1 study of IFB-088 (study P-188). First results from the study are expected in the first half of 2019. This study will provide
the safety data necessary for Phase 2 studies in Charcot-Marie-Tooth (CMT) patients that are expected to begin end of 2019.

A Clinical Trial Application (CTA) was submitted to ANSM in March 2018 for a phase 1 clinical trial to investigate the safety, tolerability and pharmacokinetics of IFB-088 when administered in single and multiple doses in healthy volunteers. It was approved on May 18th, 2018. This Phase 1 trial of IFB-088 follows a standard single ascending dose and multiple ascending dose design with the enrolment of 72 healthy volunteers.

Following the successful completion of the Phase 1 study, InFlectis BioScience will transition the IFB-088 program into a Phase 2 clinical trial to test the drug treatment’s efficacy in treating patients with Charcot-Marie-Tooth disease. Based on preclinical evidences and proofs of concept in CMT1A and CMT1B animal models, the European Commission and the Food and Drug Administration (FDA) have both already granted orphan drug designation (ODD) to IFB-088 in CMT.

Philippe Guédat, Président and CEO of InFlectis BioScience SAS said: “We are very pleased to have received the authorization to initiate a human clinical trial with IFB-088. Entering the clinic represents a significant step for IFB-088 and one step closer to reaching CMT patients who are suffering from this rare and debilitating neuropathy. In addition to CMT, the drug might also be assessed in the future in other degenerative pathologies for which InFlectis has already obtained preclinical efficacy in animal models”.

ABOUT IFB-088 (also known as Sephin1)

IFB-088 is a first-in-class orally available small molecule drug candidate with a validated mechanism of action and a promising pharmacokinetic profile for targeting the central and peripheral nervous system. IFB-088 is a selective inhibitor of PPP1R15A (GADD34), a stress-induced PP1 phosphatase regulatory subunit involved in the unfolded protein response. PPP1R15A inhibition by IFB-088 regulates the protein translation rate in stressed cells to a level manageable by the available cellular proteins that assist in protein folding (so-called “chaperones”), thereby restoring proteostasis. IFB-088 is strikingly specific for stressed cells, avoiding persistent inhibition of protein synthesis in normal, non-stressed cells.


InFlectis BioScience is a clinical stage company committed to the development of innovative therapeutics harnessing the Integrated Stress Response (ISR) for the treatment of a broad range of diseases. The company plans to demonstrate the clinical effectiveness of its drug candidate IFB-088 for the treatment of Charcot-Marie-Tooth diseases type 1A (CMT-1A) and 1B (CMT-1B). The company is also developing IFB-088 for the treatment of rare eye diseases. Meanwhile, InFlectis BioScience develops new chemical series for the treatment of non-orphan diseases. Based in Nantes in Western France, InFlectis BioScience is part of the science park of the economic area of Nantes Atlantique.

Charcot-Marie-Tooth 1A Patients Have Significant Clinical Decline After Age 50, Study Shows

Researchers have found that disease progression in Charcot-Marie-Tooth type 1A (CMT1A) patients reaches a critical point at age 50, after which clinical decline occurs faster. In response, patients should be encouraged to engage in a healthy and active lifestyle in order to preserve their function, a new study recommends.

The article “Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1a patients” was published in the European Journal of Neurology.

The aim of the study was to describe the clinical decline in CMT1A patients, by comparing their clinical impairment and age. CMT1A is the most common CMT subtype.

Researchers at the University of Naples “Federico II” in Naples, Italy, recruited and evaluated 70 CMT1A patients (26 men and 44 women from 20 to 81 years of age) and 70 sex- and age-matched healthy participants as controls.

All healthy participants had no neurological symptoms or signs or other disabilities. In the CMT1A patient group, 38 patients were from 14 different families.

Clinical impairment was measured through motor performance using three different tests: the 10-Meter Walk Test, the 6-Minute Walk Test, and the 9-Hole Peg Test of dominant and non-dominant side. All three tests determine the ability and capacity of the participant to achieve specific physical tasks.

In addition, muscle strength, disability and quality of life were evaluated in CMT1A patients.

The researchers analyzed the relationships between age and all clinical measures. In general, motor performance deteriorated with age in both CMT1A patients and healthy participants. However, motor performance deterioration was more accentuated in CMT1A patients.

The authors found that CMT1A patients and healthy participants had similar clinical measures until 50 years of age. However, from age 50 onwards, CMT1A patients had significantly greater clinical impairment when compared with healthy participants.

“Our results support this assumption demonstrating that after the 50th year of age the extent of deterioration of clinical impairment accelerates in CMT1A patients,” the authors wrote. “This is relevant for clinicians in the current management of CMT1A patients. A healthy lifestyle and physical activity should be encouraged in order to preserve the functional reserve.”

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