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Last update 08 May 2025

PHOX2B

Last update 08 May 2025

Basic Info

Synonyms

NBPhox, Neuroblastoma Phox, paired like homeobox 2B

+ [5]

Introduction

Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.

Drugs associated with PHOX2B

PHOX2B PC-CAR T Cells (Hula Therapeutics)

Target

PHOX2B

Mechanism

PHOX2B modulators

Active Org.

Myrio Therapeutics Pty Ltd. [+1]

Originator Org.

Hula Therapeutics, Inc.

Active Indication

Neuroblastoma

Inactive Indication-

Drug Highest PhaseIND Application

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Orexin B

Target

PHOX2B

Mechanism

PHOX2B modulators

Active Org.

Niigata University [+1]

Originator Org.-

Active Indication

Parkinson Disease [+1]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

WO2023028494

Patent Mining

Target

PHOX2B

Mechanism-

Active Org.

Myrio Therapeutics Pty Ltd.

[+1]

Originator Org.

The Children's Hospital of Philadelphia [+1]

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with PHOX2B

100 Translational Medicine associated with PHOX2B

0 Patents (Medical) associated with PHOX2B

828

Literatures (Medical) associated with PHOX2B

31 Dec 2025·Pulmonology

Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome

Article

Author: Dudoignon, B. ; Cayetanot, F. ; Bret, M. ; Bodineau, L. ; Similowski, T. ; Morélot-Panzini, C. ; Fossé, Q. ; Straus, C. ; Patout, M. ; Llontop, C. ; Laveneziana, P.

INTRODUCTION AND OBJECTIVESThe human congenital central hypoventilation syndrome (CCHS) is caused by mutations in the PHOX2B (paired-like homeobox 2B) gene. Genetically engineered PHOX2B rodents exhibit defective development of the brainstem retrotrapezoid nucleus (RTN), a carbon dioxide sensitive structure that critically controls expiratory muscle recruitment. This has been linked to a blunted exercise ventilatory response. Whether this can be extrapolated to human CCHS is unknown and represents the objective of this study.MATERIALS AND METHODSThirteen adult CCHS patients and 13 healthy participants performed an incremental symptom-limited cycle cardiopulmonary exercise test. Responses were analyzed using guideline approaches (ventilation V'_E, tidal volume V_T, breathing frequency, oxygen consumption, carbon dioxide production) complemented by a breathing pattern analysis (i.e. expiratory and inspiratory reserve volume, ERV and IRV).RESULTSA ventilatory response occurred in both study groups, as follows: V'_E and V_T increased in CCHS patients until 40 W and then decreased, which was not observed in the healthy participants (p<0.001). In the latter, exercise-related ERV and IRV decreases attested to concomitant expiratory and inspiratory recruitment. In the CCHS patients, inspiratory recruitment occurred but there was no evidence of expiratory recruitment (absence of any ERV decrease, p<0.001).CONCLUSIONSAssuming a similar organization of respiratory rhythmogenesis in humans and rodents, the lack of exercise-related expiratory recruitment observed in our CCHS patients is compatible with a PHOX2B-related defect of a neural structure that would be analogous to the rodents' RTN. Provided corroboration, ERV recruitment could serve as a physiological outcome in studies aiming at correcting breathing control in CCHS.

01 May 2025·Pflügers Archiv - European Journal of Physiology

Intrinsic responses to hypoxia and hypercapnia of neurons in the cardiorespiratory center of the ventral medulla of newborn rats

Article

Author: Iigaya, Kamon ; Ikeda, Keiko ; Izumizaki, Masahiko ; Koyanagi, Yui ; Onimaru, Hiroshi

The rostral ventrolateral medulla (RVLM) includes a variety of neurons essential for cardiorespiratory control. Although some of these neurons are thought to be intrinsically sensitive to hypercapnia and/or hypoxia, relationships between types of neurons and responses to hypoxia and/or hypercapnia are not well understood. Tyrosine hydroxylase (TH) is one of the cell-type markers of the RVLM neurons. Here, we report effects of hypoxia and hypercapnia on TH-positive or -negative neurons in the RVLM of newborn rats. Brainstem-spinal cord preparations were isolated from 0-3-day-old Wistar rats and superfused with artificial cerebrospinal fluid equilibrated with 95% O₂ and 5% CO₂, pH 7.4 at 25-26 °C. Membrane potential responses to hypoxia (95% → 0% O₂) and/or hypercapnia (2% → 8% CO₂) were examined in the presence of tetrodotoxin (TTX) after identification of the firing pattern. We found that TH-positive C1 neurons in the RVLM were sensitive to hypoxia with membrane depolarization but less sensitive to hypercapnia. TH-negative neurons in the C1 area showed responses similar to those of C1 neurons. Moreover, C1 area neurons remained depolarized by hypoxia in the presence of TTX plus gliotransmitter blockers. In contrast, Phox2b-positive and TH-negative neurons in the parafacial respiratory group were intrinsically sensitive to CO₂ but not sensitive to hypoxia. Respiratory-related neurons (Phox2b and TH negative) showed a variable response to hypoxia: unchanging, depolarizing, or hyperpolarizing. Our findings suggest that C1 area neurons in the RVLM are intrinsically sensitive to hypoxia and belong to one of the elements constituting central hypoxic sensors.

01 Apr 2025·Journal of Pediatric Hematology/Oncology

PHOX2B-associated Congenital Central Hypoventilation Syndrome Revealed Upon Treatment With Dinutuximab-beta

Article

Author: Couque, Nathalie ; Jouglar, Emmanuel ; Schleiermacher, Gudrun ; Aerts, Isabelle ; Valteau-Couanet, Dominique ; Chupin, Alix ; Masliah-Planchon, Julien ; Bouchoucha, Yassine ; Simaga, Fatoumata ; Philippe-Chomette, Pascale ; Mayer, Sophie ; Masserot, Caroline ; Bourdeaut, Franck ; Benkaddouss, Sakina ; Gauthier-Villars, Marion ; Bokov, Plamen ; Dudoignon, Benjamin

Alterations of PHOX2B function is associated with a wide range of diseases, including congenital central hypoventilation syndrome (CCHS) and neural crest-derived tumors, from low-grade (ganglioneuromas) to malignant forms (neuroblastomas). We report a case bearing a novel nonpolyalanine repeat PHOX2B pathogenic variant presenting both as high-risk neuroblastoma and late-onset CCHS. CCHS was revealed upon severe respiratory decompensation while the patient was administered the anti-GD2 antibody dinutuximab-beta, as part of neuroblastoma treatment. From this experience, we make propositions for the management of patients with high-risk neuroblastoma and a constitutional pathogenic variant of PHOX2B.

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PHOX2B

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