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Last update 08 May 2025

NF1

Last update 08 May 2025

Basic Info

Synonyms

Neurofibromatosis-related protein NF-1, Neurofibromin, neurofibromin 1

+ [2]

Introduction

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Drugs associated with NF1

Neurofibromatosis type 1 (UMass Chan Medical School)

Target

NF1

Mechanism

NF1 modulators

Active Org.

UMass Chan Medical School

Originator Org.

UMass Chan Medical School

Active Indication

Neurofibromatosis 1

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

WO2024259064

Patent Mining

Target

NF1

Mechanism-

Active Org.

Research Institute at Nationwide Childrens Hospital [+1]

Originator Org.

Research Institute at Nationwide Childrens Hospital [+1]

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

WO2024163571

Patent Mining

Target

NF1

Mechanism-

Active Org.

The Board of Regents of The University of Texas System

Originator Org.

The Board of Regents of The University of Texas System

Active Indication

Digestive System Disorders [+3]

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with NF1

100 Translational Medicine associated with NF1

0 Patents (Medical) associated with NF1

6,233

Literatures (Medical) associated with NF1

01 Jun 2025·Gene

The nature and pathological impact of the c.1748A > G variant of the neurofibromin 1 gene

Article

Author: Jo, Kwan Hoon ; Lee, Ji-Young ; Moon, Sung-Dae ; Cho, Yun-Jung ; Han, Je Ho ; Kim, Su Yeon ; Kim, Eun Sook

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, and mutations in the NF1 gene lead to RAS overactivation, which stimulates abnormal cell proliferation and can cause various tumors. The c.1748A > G mutation in the NF1 gene was initially classified as a missense mutation, but has also been suggested to be a splice mutation. It is thought that the substitution of A for G generates a cryptic splice site, resulting in a 27 bp deletion in the mRNA transcript, but this conclusion has not been documented in currently available databases. The present study was conducted to establish whether the NF1 c.1748A > G mutation induces a splicing error, and to determine whether it is pathogenic i.e. activates RAS and increases the expression of NF1-related downstream signaling molecules. We have confirmed by RT-PCR analysis of NF1 transcripts produced in the patient's peripheral blood lymphocytes as well as in a minigene construct and in iPSCs harboring the c.1748A > G mutation that this mutation creates a cryptic splice site which has the effect of deleting the first 27 bases of exon 16, and leading to transcriptional haploinsufficiency. Additionally, NPCs expressing the splicing mutant exhibited increased phosphorylation of NF1-related AKT/mTOR and Raf/MEK/Erk, as well as more effective wound healing and chemotaxis. We conclude that the NF1 c.1748A > G mutation acts as a splice mutation forming a novel cryptic site, causing a 27 bp deletion in the mRNA. This leads to increased expression of NF1-related downstream signaling molecules through RAS activation, inducing cell proliferation and potential tumor formation.

01 Jun 2025·European Journal of Medical Genetics

Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM

Article

Author: Ammour, Nadir ; Dhaenens, Britt A E ; Didden, Eva-Maria ; Rijnbeek, Peter ; Moinat, Maxim ; Oostenbrink, Rianne

Neurofibromatosis type 1 (NF1) is a rare tumour predisposition syndrome. Optic pathway gliomas (NF1-related OPG) are a well-characterised tumour type. There is great need for tools that can efficiently identify patients with NF1-related OPG at hospitals. Computable phenotypes algorithms can be used to find patients with certain clinical features in an electronic database. We developed computable phenotype algorithms using the Observational Medical Outcome Partnership (OMOP) Common Data Model. We subsequently assessed if these algorithms could identify patients with NF1-related OPG in an electronic health records (EHR) derived database. We created phenotype algorithms based on diagnosis codes, visits, and radiologic procedures. These phenotypes were applied to the EHR-derived database of an academic hospital. To assess the performance of the phenotypes, we calculated the precision, recall, and F2 score against a list of known cases (n = 61), provided by a clinician. To evaluate the ability of the phenotypes to identify additional cases, we manually reviewed the predicted positives of each phenotype algorithm. The phenotype algorithm based on the diagnosis codes 'Neurofibromatosis syndrome' and 'Neoplasm of optic nerve' performed best (precision = 1.000, recall = 0.614, F2-score = 0.665). The phenotype 'Neurofibromatosis syndrome and three or more Ophthalmology visits and one or more MRI of brain' performed best of the phenotypes based on visits and radiologic procedures (precision = 0.489, recall = 0.511, F2-score = 0.507). Generally, increased precision came at the cost of a decrease in recall. Following review of the predicted positives of each phenotype, 27 additional cases were identified. OMOP computable phenotype algorithms successfully identified NF1-related OPG patients in an EHR-derived database. They provided swift insight into the number of NF1-related OPG cases and were able to identify additional cases, which were not included in the original list of known cases. Phenotype algorithms created with OMOP could be an invaluable tool to facilitate patient screening, especially in multi-centric trials for rare diseases.

01 Jun 2025·Radiology Case Reports

Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report

Article

Author: El Mahi, Nadia ; Kamaoui, Imane ; Siouri, Hajar ; Ziani, Hamid ; Nasri, Siham ; Skiker, Imane ; Mojahid, Amal

Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease. The clinical manifestations and presentation of this condition are variable. In this report, we present a unique case of a 10-year-old child with NF-1 who presented with scrotal swelling associated with progressive penile enlargement. After a thorough evaluation, the diagnosis of a plexiform neurofibroma was made. MRI evaluation revealed an intrapelvic extension of the tumor affecting the bladder and spermatic cords. This rare clinical presentation makes this case particularly interesting and highlights the diverse manifestations of Von Recklinghausen disease.

News (Medical) associated with NF1

29 Apr 2025

·ir.pasithea.com

Pasithea Therapeutics Announces Completion of Enrollment and Initial Dosing of Patients in Cohort 6 from its Phase 1 Trial of PAS-004 in Advanced Cancer Patients

MIAMI, April 29, 2025 (GLOBE NEWSWIRE) -- Pasithea Therapeutics Corp. (NASDAQ: KTTA) (“Pasithea” or the “Company”), a clinical-stage biotechnology company developing PAS-004, a next-generation macrocyclic MEK inhibitor, for the treatment of neurofibromatosis type 1 (NF1) and other MAPK pathway driven cancer indications, today announced the Company has completed enrollment and initial dosing of three subjects in Cohort 6 with 30 mg capsules of PAS-004. “We are pleased to have recruited, enrolled and commenced dosing of the initial three subjects in Cohort 6 more rapidly than anticipated and we currently expect to complete enrollment of all patients in the trial by the end of 2025,” said Dr. Tiago Reis Marques, Chief Executive Officer of Pasithea. The ongoing Phase 1 clinical trial is a multi-center, open-label, dose escalation 3+3 study design to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary efficacy of PAS-004 in patients with MAPK pathway driven advanced solid tumors with a documented RAS, NF1 or RAF mutation or patients who have failed BRAF/MEK inhibition (NCT06299839). About Pasithea Therapeutics Corp. Pasithea is a clinical-stage biotechnology company focused on the discovery, research and development of innovative treatments for central nervous system (CNS) disorders, RASopathies and MAPK pathway driven tumors. Forward Looking Statements This press release contains statements that constitute “forward-looking statements” made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements include statements regarding the Company’s ongoing Phase 1 clinical trial of PAS-004 in advanced cancer patients, the Company’s planned Phase 1/1b clinical trial of PAS-004 in adult NF1 patients, and the safety, tolerability, pharmacokinetic (PK), pharmacodynamics (PD) and preliminary efficacy of PAS-004, as well as all other statements, other than statements of historical fact, regarding the Company’s current views and assumptions with respect to future events regarding its business, as well as other statements with respect to the Company’s plans, assumptions, expectations, beliefs and objectives, the success of the Company’s current and future business strategies, product development, pre-clinical studies, clinical studies, clinical and regulatory timelines, market opportunity, competitive position, business strategies, potential growth opportunities and other statements that are predictive in nature. Forward-looking statements are subject to numerous conditions, many of which are beyond the control of the Company. While the Company believes these forward-looking statements are reasonable, undue reliance should not be placed on any such forward-looking statements, which are based on information available to the Company on the date of this release. These forward-looking statements are based upon current estimates and assumptions and are subject to various risks and uncertainties, including risks that future clinical trial results may not match results observed to date, may be negative or ambiguous, or may not reach the level of statistical significance required for regulatory approval, as well as other factors set forth in the Company’s most recent Annual Report on Form 10-K, Quarterly Report on Form 10-Q and other filings made with the U.S. Securities and Exchange Commission (SEC). Thus, actual results could be materially different. The Company undertakes no obligation to update these statements whether as a result of new information, future events or otherwise, after the date of this release, except as required by law. Pasithea Therapeutics Contact Patrick Gaynes Corporate Communications pgaynes@pasithea.com Released April 29, 2025

Phase 1

24 Apr 2025

·ir.pasithea.com

Pasithea Therapeutics to Present Updated Data from Ongoing Phase 1 Trial of PAS-004 in Advanced Cancer Patients at the 2025 ASCO Annual Meeting

Poster presentation on Monday, June 2, 2025 from 1:30 – 4:30 PM CDT at the ASCO Annual Meeting MIAMI, April 24, 2025 (GLOBE NEWSWIRE) -- Pasithea Therapeutics Corp. (NASDAQ: KTTA) (“Pasithea” or the “Company”), a clinical-stage biotechnology company developing PAS-004, a next-generation macrocyclic MEK inhibitor, for the treatment of neurofibromatosis type 1 (NF1) and other MAPK pathway driven indications, today announced the acceptance of an abstract for a poster prenstation at the Annual Meeting of the American Society for Clinical Oncology (ASCO) taking place May 30 – June 3, 2025, in Chicago, Illinois. The Company will present updated interim clinical data from its onging Phase 1 clinical trial of PAS-004 in patients with MAPK pathway driven advanced solid tumors. “We are pleased to present interim clinical data of PAS-004 through cohort 4A and 4B, that to date has demonstrated clinical activity, target engagement, and a favorable safety profile,” said Dr. Tiago Reis Marques, Chief Executive Officer of Pasithea. “We believe PAS-004’s emerging profile may achieve the sweet spot between PK, PD and tolerability and may make PAS-004 an ideal candidate for the treatment of NF1 related cutaneous and plexiform neurofibromas as well as a potential candidate for treatment of various cancers and MAPK pathway driven diseases.” Presentation and poster details Title: Phase 1 dose-escalation study of the safety and pharmacokinetics of PAS-004, a macrocyclic MEK inhibitor, for the treatment of patients with MAPK pathway–driven advanced solid tumors Session: Poster Session – Developmental Therapeutics – Molecularly Targeted Agents and Tumor Biology Poster Board: 440 Date and Time: 6/2/2025, 1:30 – 4:30 PM CDT The full abstract will be available on the ASCO® website on May 22, 2025, at 5:00 p.m. ET. The ongoing Phase 1 clinical trial is a multi-center, open-label, dose escalation 3+3 study design to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and preliminary efficacy of PAS-004 in patients with MAPK pathway driven advanced solid tumors with a documented RAS, NF1 or RAF mutation or patients who have failed BRAF/MEK inhibition (NCT06299839). About Pasithea Therapeutics Corp. Pasithea is a clinical-stage biotechnology company focused on the discovery, research and development of innovative treatments for central nervous system (CNS) disorders, RASopathies and MAPK pathway driven diseases. Forward-Looking Statements This press release contains statements that constitute “forward-looking statements” made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements include statements regarding the Company’s ongoing Phase 1 clinical trial of PAS-004 in advanced cancer patients, the Company’s planned Phase 1/1b clinical trial of PAS-004 in adult NF1 patients, and the safety, tolerability, pharmacokinetic (PK), pharmacodynamics (PD) and preliminary efficacy of PAS-004, as well as all other statements, other than statements of historical fact, regarding the Company’s current views and assumptions with respect to future events regarding its business, as well as other statements with respect to the Company’s plans, assumptions, expectations, beliefs and objectives, the success of the Company’s current and future business strategies, product development, pre-clinical studies, clinical studies, clinical and regulatory timelines, market opportunity, competitive position, business strategies, potential growth opportunities and other statements that are predictive in nature. Forward-looking statements are subject to numerous conditions, many of which are beyond the control of the Company. While the Company believes these forward-looking statements are reasonable, undue reliance should not be placed on any such forward-looking statements, which are based on information available to the Company on the date of this release. These forward-looking statements are based upon current estimates and assumptions and are subject to various risks and uncertainties, including risks that future clinical trial results may not match results observed to date, may be negative or ambiguous, or may not reach the level of statistical significance required for regulatory approval, as well as other factors set forth in the Company’s most recent Annual Report on Form 10-K, Quarterly Report on Form 10-Q and other filings made with the U.S. Securities and Exchange Commission (SEC). Thus, actual results could be materially different. The Company undertakes no obligation to update these statements whether as a result of new information, future events or otherwise, after the date of this release, except as required by law. Pasithea Therapeutics Contact Patrick Gaynes Corporate Communications pgaynes@pasithea.com Released April 24, 2025

Phase 1ASCO

10 Apr 2025

·ir.pasithea.com

Pasithea Therapeutics Announces Positive Safety Review Committee (SRC) Recommendation from its Ongoing Phase 1 Clinical Trial of PAS-004 in Advanced Cancer

– SRC recommended that the trial escalate to the next dose level of 30mg capsule – – No dose-limiting toxicities (DLT’s) or rash observed to date – MIAMI, April 10, 2025 (GLOBE NEWSWIRE) -- Pasithea Therapeutics Corp. (NASDAQ: KTTA) (“Pasithea” or the “Company”), a clinical-stage biotechnology company developing PAS-004, a next-generation macrocyclic MEK inhibitor, for the treatment of neurofibromatosis type 1 (NF1) and other cancer indications, today announced that the external Safety Review Committee recommended that the Company’s Phase 1 clinical trial of PAS-004 in advanced cancer should proceed to Cohort 6, 30mg capsule, without modification. This recommendation was based on the review of the safety data from three patients from Cohort 5 and the absence of any dose limiting toxicities (DLT’s). In addition, no rash has been observed to date during the DLT period in any of the first 19 patients in either capsule (15 patients) or tablet (four patients) formulation of PAS-004. Rash is a common adverse event (AE) that is observed at low doses with competitor MEK inhibitors and may lead to the discontinuation rate in real world practice. “We are seeing substantial enrollment demand and have already identified Cohort 6 patients. In addition, we continue to observe substantial exposure levels of PAS-004, and remain excited about the possibility of delivering relevant pERK inhibition below the no observed adverse effect levels (NOAEL) as we modeled and observed during our previously conducted nine-month chronic toxicity studies. The on label rash rate for both approved MEKi for NF1 exceeds 80% which leads to patients discontinuing who otherwise should remain on treatment for longer periods of time”, stated Dr. Tiago Reis Marques, Chief Executive Officer of Pasithea. “We will provide additional safety, pharmacokinetic (PK) and pharmacodynamic (PD) data over the next several weeks.” The ongoing Phase 1 clinical trial is a multi-center, open-label, dose escalation 3+3 study design to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and preliminary efficacy of PAS-004 in patients with MAPK pathway driven advanced solid tumors with a documented RAS, NF1 or RAF mutation or patients who have failed BRAF/MEK inhibition (NCT06299839). About Pasithea Therapeutics Corp. Pasithea is a biotechnology company focused on the discovery, research and development of innovative treatments for central nervous system (CNS) disorders and RASopathies. With an experienced team of experts in the fields of neuroscience, translational medicine, and drug development, Pasithea is developing new molecular entities for the treatment of neurological disorders, including Neurofibromatosis type 1 (NF1), Solid Tumors, and Amyotrophic Lateral Sclerosis (ALS). Forward Looking Statements This press release contains statements that constitute “forward-looking statements” made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements include statements regarding the Company’s ongoing Phase 1 clinical trial and the safety, tolerability, pharmacokinetic (PK), pharmacodynamics (PD) and preliminary efficacy of PAS-004, as well as all other statements, other than statements of historical fact, regarding the Company’s current views and assumptions with respect to future events regarding its business, as well as other statements with respect to the Company’s plans, assumptions, expectations, beliefs and objectives, the success of the Company’s current and future business strategies, product development, preclinical studies, clinical studies, clinical and regulatory timelines, market opportunity, competitive position, business strategies, potential growth opportunities and other statements that are predictive in nature. Forward-looking statements are subject to numerous conditions, many of which are beyond the control of the Company. While the Company believes these forward-looking statements are reasonable, undue reliance should not be placed on any such forward-looking statements, which are based on information available to the Company on the date of this release. These forward-looking statements are based upon current estimates and assumptions and are subject to various risks and uncertainties, including risks that future clinical trial results may not match results observed to date, may be negative or ambiguous, or may not reach the level of statistical significance required for regulatory approval, as well as other factors set forth in the Company’s most recent Annual Report on Form 10-K, Quarterly Report on Form 10-Q and other filings made with the U.S. Securities and Exchange Commission (SEC). Thus, actual results could be materially different. The Company undertakes no obligation to update these statements whether as a result of new information, future events or otherwise, after the date of this release, except as required by law. Pasithea Therapeutics Contact Patrick Gaynes Corporate Communications pgaynes@pasithea.com Released April 10, 2025

Phase 1Clinical Result

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NF1

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