PellePharm announces launch to develop topical gel for basal cell carcinoma

PellePharm announced its launch today, with financing from BridgeBio Pharma. The Menlo Park, Calif.-based company is developing a topical gel to treat basal cell carcinoma, including the tumors that result from Gorlin syndrome. The company’s topical inhibitor compound, patidegib, acts on the hedgehog pathway – a signaling pathway that transmits cellular information for adult tissue maintenance. Abnormal hedgehog signaling has been correlated with a number of cancers including basal cell carcinoma. PellePharm is studying the topical formulation of patidegib in 2 phase II trials. A study evaluating the gel’s use in patients with Gorlin syndrome just completed enrollment, according to the company. Get the full story at our sister site, Drug Delivery Business News. The post PellePharm announces launch to develop topical gel for basal cell carcinoma appeared first on MassDevice.
Source: Mass Device - Category: Medical Equipment Authors: Tags: Clinical Trials Drug-Device Combinations Oncology Pharmaceuticals BridgeBio Pharma PellePharm Source Type: news

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Abstract Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. The most common syndromes associated with basal cell carcinoma are: Gorlin-Goltz syndrome, Rombo syndrome, and Bazex-Dupré-Christol syndrome. Multiple squamous cell carcinomas can be related to: xeroderma pigmentos...
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
ConclusionOverall, 89% of our NCI families had a pathogenicPTCH1 mutation. The identification ofPTCH1 mutations in previously mutation ‐negative families underscores the importance of repeated testing when new technologies become available. Additional clinical information linked to mutation databases would enhance follow‐up and future studies of genotype–phenotype relationships.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Gorlin–Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits. It may occur that although GGS syndrome is a well-known condition, only the specifi...
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Brief Clinical Studies Source Type: research
We report a case of a 6-year-old female presenting with ventricular tachycardia secondary to cardiac fibroma. After diagnosis of recurrent jaw keratocysts, she was clinically and molecularly diagnosed with NBCCS. Identification of a cardiac fibroma should prompt careful assessment of past medical and family history with consideration of a diagnosis of NBCCS.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
Authors: Skoda AM, Simovic D, Karin V, Kardum V, Vranic S, Serman L Abstract The Hedgehog (Hh) signaling pathway was first identified in the common fruit fly. It is a highly conserved evolutionary pathway of signal transmission from the cell membrane to the nucleus. The Hh signaling pathway plays an important role in the embryonic development. It exerts its biological effects through a signaling cascade that culminates in a change of balance between activator and repressor forms of glioma-associated oncogene (Gli) transcription factors. The components of the Hh signaling pathway involved in the signaling transfer t...
Source: Bosnian Journal of Basic Medical Sciences - Category: General Medicine Tags: Bosn J Basic Med Sci Source Type: research
Basal cell carcinoma (BCC) is the most common type of skin cancer worldwide [1 –4]. In the United States, BCC is diagnosed in> 2 million patients annually, and global incidence rates continue to rise [1,5,6]. Risk factors for the development of BCC include fair skin type, exposure to ultraviolet radiation, age, history of BCC, genetic disorders (eg, Gorlin syndrome, xeroderma pigmentosum), and immunosuppression [1,2,4,7]. BCC tumors are generally slow growing and rarely metastasize, and the prognosis for patients who receive appropriate therapy is typically very good [1 –3].
Source: Cancer Treatment Reviews - Category: Cancer & Oncology Authors: Tags: Anti-Tumour Treatment Source Type: research
ConclusionOn the basis of our results, OKCs do not present recurrent hotspot mutations in these 50 genes commonly mutated in cancer. In addition, BRAFV600E does not play a central role in OKC pathogenesis.This article is protected by copyright. All rights reserved.
Source: Journal of Oral Pathology and Medicine - Category: Pathology Authors: Tags: Original Article Source Type: research
CONCLUSIONS: Our study reported the identification of 17 novel candidate genes in a Han Chinese family through WES. ZFHX4 may be a susceptibility gene for NBCCS in Chinese population. PMID: 29081410 [PubMed - as supplied by publisher]
Source: Cancer Biomarkers - Category: Cancer & Oncology Tags: Cancer Biomark Source Type: research
Abstract Hedgehog signaling is highly conserved across species and governs proper embryonic development. Germline gene mutations that reduce this signaling activity cause a variety of developmental abnormalities such as holoprosencephaly, while those that enhance Hedgehog signaling activity induce a tumor‐predisposition condition Nevoid basal cell carcinoma syndrome. Furthermore, dysregulated activation of Hedgehog signaling has been recognized in various sporadic malignancies, including pancreatic adenocarcinoma. Pancreatic adenocarcinoma develops through a multistep carcinogenesis starting with oncogenic mutation of th...
Source: Pathology International - Category: Pathology Authors: Tags: Review Article Source Type: research
The etiology of most childhood cancer remains largely unknown, but is likely attributable to random or induced genetic aberrations in somatic tissue. However, a subset of children develops cancer in the setting of an underlying inheritable condition involving a germline genetic mutation or chromosomal aberration. The term "neurocutaneous syndrome" encompasses a group of multisystem, hereditary disorders that are associated with skin manifestations as well as central and/or peripheral nervous system lesions of variable severity. This review outlines the central nervous system tumors associated with underlying neur...
Source: Journal of Child Neurology - Category: Neurology Authors: Tags: Original Articles Source Type: research
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