Last update 21 Mar 2024

Bohring Syndrome

Last update 21 Mar 2024

Basic Info

Synonyms

BOHRING SYNDROME, BOHRING-OPITZ SYNDROME, BOPS

+ [13]

Introduction

An autosomal dominant condition caused by mutation(s) in the ASXL1 gene, encoding putative polycomb group protein ASXL1. It is characterized by severe intrauterine growth retardation, profound mental retardation, craniofacial dysmorphisms, and flexion deformities of the upper limbs.

Clinical Trials associated with Bohring Syndrome

NCT05654922 / RecruitingPhase 3

A Phase 3, Open-label, Randomized, Standard of Care-controlled, Parallel Study Arm Study to Demonstrate Efficacy and Safety of ARINA-1 in the Prevention of Bronchiolitis Obliterans Syndrome (BOS) Progression in Participants With a Bilateral Lung Transplant

The goal of this clinical trial is to compare ARINA-1 plus Standard of Care vs Standard of Care alone. The main question it aims to answer are:
Evaluate the effectiveness of ARINA-1 in preventing bronchiolitis obliterans syndrome (BOS) progression in participants with a bilateral lung transplant
To evaluate the effectiveness of ARINA-1 on improving quality of life decline and preventing or delaying the use of augmented immunosuppression in participants with pre-BOS relative to SOC.
Participants will have clinic visits at screening, randomization (day 1) and weeks 4, 12, 18, and 24. After week 24, participants will have clinic visits at weeks 32, 40, and 48.
Participants will also have a telehealth visit on day 2 and phone calls to assess adverse events (AEs), serious adverse events (SAEs), and review patient education will occur during weeks 5, 8, 36, and 44.

Start Date10 Apr 2023

Sponsor / Collaborator

Renovion, Inc.

NCT04239989 / RecruitingPhase 1IIT

A Phase I Study to Assess Safety of Selective JAK 1 Inhibitor, Itacitinib, in Patients With Bronchiolitis Obliterans Syndrome (BOS) After Allogeneic Hematopoietic Cell Transplant (HCT)

This phase I trial studies how well itacitinib works for the treatment of bronchiolitis obliterans syndrome after donor hematopoietic cell transplant. Itacitinib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.

Start Date08 Apr 2021

Sponsor / Collaborator

The University of Texas MD Anderson Cancer Center

NCT03603899 / RecruitingPhase 1/2IIT

Imaging and Understanding Bronchiolitis Obliterans Syndrome (BOS) in Lung Transplantation With Hyperpolarized 129Xenon MR Lung Imaging

The research is being conducted to develop new imaging methods that are sufficiently sensitive to allow for early diagnosis of BOS, a chronic allograft rejection affecting 50-60% of lung transplanted recipients who survive 5 years after transplant. Although lung transplantation has evolved into an effective therapeutic option for a large number of pediatric patients with end-stage pulmonary disease, long-term survival after lung transplantation is far worse than after the transplantation of other solid organs. This research may improve patient outcomes through earlier diagnosis of changes leading to BOS by obtaining image guided research biopsies of transplanted lung. Biopsies may be used for future research of ex vivo biomarkers of BOS and in the development of treatments through future clinical trials.

Start Date09 Sep 2020

Sponsor / Collaborator

Children's Hospital & Medical Center

100 Clinical Results associated with Bohring Syndrome

100 Translational Medicine associated with Bohring Syndrome

0 Patents (Medical) associated with Bohring Syndrome

1,063

Literatures (Medical) associated with Bohring Syndrome

22 Feb 2024·EBioMedicine

Ventilatory capacity in CLAD is driven by dysfunctional airway structure.

Article

Author: Pieterjan Kerckhof ; Gene P L Ambrocio ; Hanne Beeckmans ; Janne Kaes ; Vincent Geudens ; Saskia Bos ; Lynn Willems ; Astrid Vermaut ; Marie Vermant ; Tinne Goos ; Charlotte De Fays ; Lucia Aversa ; Yousry Mohamady ; Arno Vanstapel ; Michaela Orlitová ; Jan Van Slambrouck ; Xin Jin ; Vimi Varghese ; Iván Josipovic ; Matthieu N Boone ; Lieven J Dupont ; Birgit Weynand ; Adriana Dubbeldam ; Dirk E Van Raemdonck ; Laurens J Ceulemans ; Ghislaine Gayan-Ramirez ; Laurens J De Sadeleer ; John E McDonough ; Bart M Vanaudenaerde ; Robin Vos

BACKGROUND:

Chronic lung allograft dysfunction (CLAD) encompasses three main phenotypes: bronchiolitis obliterans syndrome (BOS), restrictive allograft syndrome (RAS) and a Mixed phenotype combining both pathologies. How the airway structure in its entirety is affected in these phenotypes is still poorly understood.

METHODS:

A detailed analysis of airway morphometry was applied to gain insights on the effects of airway remodelling on the distribution of alveolar ventilation in end-stage CLAD. Ex vivo whole lung μCT and tissue-core μCT scanning of six control, six BOS, three RAS and three Mixed explant lung grafts (9 male, 9 female, 2014-2021, Leuven, Belgium) were used for digital airway reconstruction and calculation of airway dimensions in relation to luminal obstructions.

FINDINGS:

BOS and Mixed explants demonstrated airway obstructions of proximal bronchioles (starting at generation five), while RAS explants particularly had airway obstructions in the most distal bronchioles (generation >12). In BOS and Mixed explants 76% and 84% of bronchioles were obstructed, respectively, while this was 22% in RAS. Bronchiolar obstructions were mainly caused by lymphocytic inflammation of the airway wall or fibrotic remodelling, i.e. constrictive bronchiolitis. Proximal bronchiolectasis and imbalance in distal lung ventilation were present in all CLAD phenotypes and explain poor lung function and deterioration of specific lung function parameters.

INTERPRETATION:

Alterations in the structure of conducting bronchioles revealed CLAD to affect alveolar ventilatory distribution in a regional fashion. The significance of various obstructions, particularly those associated with mucus, is highlighted.

FUNDING:

This research was funded with the National research fund Flanders (G060322N), received by R.V.

13 Feb 2024·Transplantation and cellular therapy

Detection of bronchiolitis obliterans syndrome using nitrogen multiple breath washout in children post-haemopoietic stem cell transplant.

Article

Author: Nicole Westrupp ; Cassidy Du Berry ; Theresa Cole ; Shivanthan Shanthikumar ; Liam Welsh

BACKGROUND:

Bronchiolitis obliterans syndrome (BOS) is a severe complication following haemopoietic stem cell transplantation (HSCT) and is often undetected until there is significant deterioration in pulmonary function. Lung clearance index (LCI_2.5) derived from the nitrogen multiple breath washout (N₂MBW) test may be more feasible and sensitive than spirometry, which is currently used for surveillance and detection of BOS.

OBJECTIVE:

We aimed to examine the feasibility of performing surveillance N₂MBW in children post-HSCT, and in an exploratory analysis, determine if LCI_2.5 led to earlier detection of BOS when compared to spirometric indices.

STUDY DESIGN:

Participants aged 5 - 17 years were recruited prior to receiving HSCT into a prospective, single-centre, feasibility study at the Royal Children's Hospital, Melbourne. N₂MBW and spirometry were performed within the month prior to transplant and repeated at 3, 6, 9 and 12 months post-transplant. Data were also collected on the presence of graft-versus-host (GVHD) disease in any organ, including the lungs.

RESULTS:

Twenty-one (12 male) children with a mean age of 13.4 (range 9.2-17.1) years at recruitment participated in this study. Prior to HSCT, all participants had normal LCI_2.5, while 16 (76%) demonstrated normal forced expiratory volume in 1 second (FEV₁). Ninety-nine percent of N₂MBW tests were technically acceptable, compared with 66% of spirometry tests. Three participants developed BOS, while two participants died of other respiratory complications. At 6 and 12 months post-transplant, the BOS group had increases in LCI_2.5 ranging from 3 to 5 units and mean reductions in FEV₁ % predicted of 40% to 53% relative to pre HSCT values, respectively. In those who developed BOS, post-HSCT LCI_2.5 values were significantly worse when compared with the no BOS group (p<0.001). Relative changes in LCI_2.5 and FEV₁ were both predictive of BOS at 6 months post HSCT.

CONCLUSION:

This study demonstrates that N₂MBW is a more feasible test compared with spirometry in children post HSCT. However, in an exploratory analysis, LCI_2.5 did not lead to earlier detection of BOS, when compared to spirometry.

03 Jan 2024·Annals of general psychiatry

Occurrences of post-traumatic stress disorder, anxiety, depression, and burnout syndrome in ICU staff workers after two-year of the COVID-19 pandemic: the international PSY-CO in ICU study.

Article

Author: Claire Roger ; Lowel Ling ; Mélissa Petrier ; Loubna Elotmani ; Enora Atchade ; Bernard Allaouchiche ; Frédéric Aubrun ; Jean-Michel Constantin ; Claire Dahyot-Fizelier ; Nathalie Delhaye ; Hervé Dupont ; Marc-Olivier Fischer ; Marc Garnier ; Etienne Gayat ; Carole Ichai ; Samir Jaber ; Jérome Morel ; Benoit Plaud ; Thomas Rimmelé ; Sylvaine Robin ; Renee Saba ; Gavin M Joynt ; Jean-Yves Lefrant ; Pascale Fabbro-Peray ; Jeffrey Lipman ; Ismael Conejero ; Kevin Laupland

PURPOSE:

The present study aimed at assessing the prevalences of post-traumatic stress disorder (PTSD) (main objective), anxiety, depression, and burnout syndrome (BOS) and their associated factors in intensive care unit (ICU) staff workers in the second year of the COVID-19 pandemic.

MATERIALS AND METHODS:

An international cross-sectional multicenter ICU-based online survey was carried out among the ICU staff workers in 20 ICUs across 3 continents. ICUs staff workers (both caregivers and non-caregivers) were invited to complete PCL-5, HADS, and MBI questionnaires for assessing PTSD, anxiety, depression, and the different components of BOS, respectively. A personal questionnaire was used to isolate independent associated factors with these disorders.

RESULTS:

PCL-5, HADS, and MBI questionnaires were completed by 585, 570, and 539 responders, respectively (525 completed all questionnaires). PTSD was diagnosed in 98/585 responders (16.8%). Changing familial environment, being a non-caregiver staff worker, having not being involved in a COVID-19 patient admission, having not been provided with COVID-19-related information were associated with PTSD. Anxiety was reported in 130/570 responders (22.8%). Working in a public hospital, being a woman, being financially impacted, being a non-clinical healthcare staff member, having no theoretical or practical training on individual preventive measures, and fear of managing COVID-19 patients were associated with anxiety. Depression was reported in 50/570 responders (8.8%). Comorbidity at risk of severe COVID-19, working in a public hospital, looking after a child, being a non-caregiver staff member, having no information, and a request for moving from the unit were associated with depression. Having received no information and no adequate training for COVID-19 patient management were associated with all 3 dimensions of BOS.

CONCLUSION:

The present study confirmed that ICU staff workers, whether they treated COVID-19 patients or not, have a substantial prevalence of psychological disorders.

News (Medical) associated with Bohring Syndrome

16 Feb 2024

·www.globenewswire.com

OrphAI Therapeutics receives Orphan Drug Designation for AIT-101 as a treatment for amyotrophic lateral sclerosis in the European Union

Feb. 15, 2024 -- OrphAI Therapeutics Inc. (“OrphAI”), a clinical-stage biopharmaceutical company developing novel therapeutics for rare diseases, announced today that it has received Orphan Drug Designation (ODD) in the European Union (EU) for the treatment of amyotrophic lateral sclerosis (ALS). AIT-101 previously received ODD from the U.S. FDA in June 2023 for the treatment of ALS. “OrphAI Therapeutics now has orphan designation for AIT-101 both in the US and the EU for the treatment of ALS, an important step toward bringing the drug to patients suffering from this neurodegenerative disorder,” said Dr. Brigette Roberts, CEO and Director of OrphAI. “AIT-101 has demonstrated compelling activity in its ability to clear toxic aggregates, which are a hallmark of ALS and other neurodegenerative diseases. We look forward to moving AIT-101 into the next stage of clinical development." AIT-101 is a first-in-class, potent and highly selective inhibitor of the lipid kinase PIKfyve. Inhibition of PIKfyve leads to activation of the transcription factor TFEB which drives the increased clearance of toxic protein aggregates via the lysosomal autophagy pathway. AIT-101 has now been demonstrated to reduce aggregates in human subjects, to improve the survival of motor neurons in in vitro models of familial and sporadic ALS, and to ameliorate functional deficits in a mutant TDP-43 animal model of ALS. AIT-101 is the most clinically advanced PIKfyve inhibitor in development. OrphAI Therapeutics’ mission is to transform the lives of patients with rare diseases. The company is currently developing three investigational therapies across multiple orphan indications: AIT-101, a first-in-class PIKfyve inhibitor, which recently completed a Phase 2a clinical trial in amyotrophic lateral sclerosis (ALS); LAM-001, a proprietary inhaled form of rapamycin, currently in Phase 2 for Group 1 and 3 pulmonary hypertension and bronchiolitis obliterans syndrome (BOS); and AIT-102, a proprietary analogue of mithramycin, in preclinical development, for the treatment of SWI/SNF mutated or dysregulated tumors. The content above comes from the network. if any infringement, please contact us to modify.

Orphan DrugClinical Result

24 Jan 2024

·www.globenewswire.com

OrphAI Therapeutics Announces Appointment of Jay Fine to Board of Directors

Seasoned leader in drug discovery and developmentGUILFORD, Conn., Jan. 24, 2024 (GLOBE NEWSWIRE) -- OrphAI Therapeutics Inc. (“OrphAI”), a clinical-stage biopharmaceutical company developing novel therapeutics for rare diseases, announced today the appointment of Jay S. Fine, Ph.D. to its Board of Directors. Dr. Fine has a strong track record of drug discovery and development leadership in respiratory diseases, oncology, immunology and fibrotic disease indications. His leadership has contributed to the progression of over 30 new molecular entities into clinical development, leading to the commercial launch of multiple products including Skyrizi™ for Plaque Psoriasis, Psoriatic Arthritis and Crohn’s Disease and Spevigo™ for Generalized Pustular Psoriasis. He has chaired various governance and steering committees at several global pharmaceutical companies. Dr. Fine currently serves as President of Research and Development at EvolveImmune Therapeutics, a development-stage company focused on advancing differentiated immunotherapeutic approaches for the treatment of cancer. Previously, he served as Senior Vice President and Global Therapeutic Area Head for Immunology and Respiratory Diseases Research at Boehringer Ingelheim and as the Discovery Research Site Head at their Ridgefield, CT location. Dr. Fine also served as Head of Translational Biology at Roche Pharmaceuticals, was a Director in the Inflammation department at Schering-Plough and worked in the Biologic Response Modifiers Program at the National Cancer Institute. He holds a B.S. degree from Cornell University and a Ph.D. from the University of Rochester School of Medicine. Dr. Fine has authored over 75 scientific publications and patents and has been the recipient of numerous honors and awards during his career. “Jay Fine represents an extraordinary resource both for the Board as well as for the OrphAI management team, given his years of experience and success in the operational leadership of drug discovery and development. I am personally excited to work with him in this capacity,” said Dr. Brigette Roberts, CEO and Director of OrphAI. “I am very pleased to join the OrphAI Therapeutics’ Board of Directors,” said Dr. Fine. “The company has established an exciting product pipeline which holds tremendous potential to meaningfully improve the lives of patients with rare diseases. I look forward to working closely with the OrphAI team and its board to accelerate the progress of its promising pipeline.” “We are excited to welcome Jay Fine to our Board of Directors,” said David Scheer, Chairman of the Board of Directors at OrphAI. “Jay’s extensive leadership experience and drug development insights will be especially valuable to OrphAI and our Board as we collectively embark on this next stage of the company’s growth.” About OrphAI Therapeutics OrphAI Therapeutics’ mission is to transform the lives of patients with rare diseases. The company is currently developing three investigational therapies across multiple orphan indications: AIT-101, a first-in-class PIKfyve inhibitor, which recently completed a Phase 2a clinical trial in amyotrophic lateral sclerosis (ALS); LAM-001, a proprietary inhaled form of rapamycin, currently in Phase 2 for bronchiolitis obliterans syndrome (BOS) and pulmonary arterial hypertension (PAH); and AIT-102, a proprietary analogue of mithramycin, in preclinical development for the treatment of SWI/SNF mutated or dysregulated tumors. To learn more, please visit: OrphAI-Therapeutics.com

Phase 2Executive Change

07 Dec 2023

·www.prnewswire.com

Itacitinib Emerging Drug Insights and Market Forecasts, 2019-2032: An Orally Bioavailable Inhibitor of Janus-associated Kinase 1 (JAK1) with Potential Antineoplastic and Immunomodulating Activities

DUBLIN, Dec. 7, 2023 /PRNewswire/ -- The "Itacitinib Emerging Drug Insight and Market Forecast - 2032" report has been added to ResearchAndMarkets.com's offering. This report provides comprehensive insights about itacitinib for Bronchiolitis Obliterans Syndrome (BOS) in the seven major markets. A detailed picture of the itacitinib for bronchiolitis obliterans syndrome in the 7MM, i.e., the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan for the study period 2019 -2032 is provided in this report along with a detailed description of the itacitinib for bronchiolitis obliterans syndrome. The report provides insights about mechanism of action, dosage and administration, as well as research and development including regulatory milestones, along with other developmental activities. Further, it also consists of future market assessments inclusive of the itacitinib market forecast analysis for bronchiolitis obliterans syndrome in the 7MM, SWOT, analysts' views, comprehensive overview of market competitors, and brief about other emerging therapies in bronchiolitis obliterans syndrome. Drug Summary Itacitinib (also known as INCB-039110) is an orally bioavailable inhibitor of Janus-associated kinase 1 (JAK1) with potential antineoplastic and immunomodulating activities. Upon oral administration, itacitinib selectively inhibits JAK-1, thereby inhibiting the phosphorylation of signal transducer and activator of transcription (STAT) proteins and the production of pro-inflammatory factors induced by other cytokines, including interleukin-23 (IL-23) and interleukin-6 (IL-6). The JAK-STAT pathway plays a key role in the signaling of many cytokines and growth factors and is involved in cellular proliferation, growth, hematopoiesis, and the immune response; JAK kinases may be upregulated in inflammatory diseases, myeloproliferative disorders, and various malignancies. Itacitinib Analytical Perspective In-depth Itacitinib Market Assessment This report provides a detailed market assessment of itacitinib for bronchiolitis obliterans syndrome in the seven major markets, i.e., the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan. This segment of the report provides forecasted sales data from 2031 to 2032. Itacitinib Clinical Assessment The report provides the clinical trials information of itacitinib for bronchiolitis obliterans syndrome covering trial interventions, trial conditions, trial status, start and completion dates. Report Highlights In the coming years, the market scenario for bronchiolitis obliterans syndrome is set to change due to the extensive research and incremental healthcare spending across the world; which would expand the size of the market to enable the drug manufacturers to penetrate more into the market. The companies are developing therapies that focus on novel approaches to treat/improve the disease condition, assess challenges, and seek opportunities that could influence itacitinib dominance. Other emerging products for bronchiolitis obliterans syndrome are expected to give tough market competition to itacitinib and launch of late-stage emerging therapies in the near future will significantly impact the market. A detailed description of regulatory milestones, and developmental activities, provide the current development scenario of itacitinib in bronchiolitis obliterans syndrome. This in-depth analysis of the forecasted sales data of itacitinib from 2031 to 2032 will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the itacitinib in bronchiolitis obliterans syndrome. Key Topics Covered: 1. Report Introduction 2. Itacitinib Overview in Bronchiolitis Obliterans Syndrome 2.1. Product Detail 2.2. Clinical Development 2.2.1. Clinical studies 2.2.2. Clinical trials information 2.2.3. Safety and efficacy 2.3. Product Profile 3. Competitive Landscape (Late-stage Emerging Therapies) 4. Itacitinib Market Assessment 4.1. Market Outlook of Itacitinib in Bronchiolitis Obliterans Syndrome 4.2. 7MM Analysis 4.2.1. Market Size of Itacitinib in the 7MM for Bronchiolitis Obliterans Syndrome 4.3. Country-wise Market Analysis 4.3.1. Market Size of Itacitinib in the United States for Bronchiolitis Obliterans Syndrome 4.3.2. Market Size of Itacitinib in Germany for Bronchiolitis Obliterans Syndrome 4.3.3. Market Size of Itacitinib in France for Bronchiolitis Obliterans Syndrome 4.3.4. Market Size of Itacitinib in Italy for Bronchiolitis Obliterans Syndrome 4.3.5. Market Size of Itacitinib in Spain for Bronchiolitis Obliterans Syndrome 4.3.6. Market Size of Itacitinib in the United Kingdom for Bronchiolitis Obliterans Syndrome 4.3.7. Market Size of Itacitinib in Japan for Bronchiolitis Obliterans Syndrome 5. SWOT Analysis 6. Analysts' Views 7. Appendix For more information about this report visit About ResearchAndMarkets.com ResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. Media Contact: Research and Markets Laura Wood, Senior Manager [email protected] For E.S.T Office Hours Call +1-917-300-0470 For U.S./CAN Toll Free Call +1-800-526-8630 For GMT Office Hours Call +353-1-416-8900 U.S. Fax: 646-607-1907 Fax (outside U.S.): +353-1-481-1716 Logo - SOURCE Research and Markets

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Bohring Syndrome

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