Last update 21 Mar 2024

Muenke Syndrome

Last update 21 Mar 2024

Basic Info

Synonyms

FGFR3-Associated Coronal Synostosis, FGFR3-Related Craniosynostosis, Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis

+ [13]

Introduction

A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes.

Drugs associated with Muenke Syndrome

FPI-1967

Target

FGFR3

Mechanism

FGFR3 antagonists [+1]

Active Org.

Fusion Pharmaceuticals, Inc.

Originator Org.

Fusion Pharmaceuticals, Inc.

Active Indication

Breast Cancer [+8]

Inactive Indication-

Drug Highest PhasePhase 1/2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Muenke Syndrome

NCT05363605 / TerminatedPhase 1/2

A Phase 1/2 Study of [225Ac]-FPI-1966, [111In]-FPI-1967, and Vofatamab in Participants With FGFR3-expressing Advanced, Inoperable, Metastatic and/or Recurrent Solid Tumours

This first-in-human study evaluates safety, tolerability and distribution of [225Ac] FPI-1966, [111In]-FPI-1967, and vofatamab in patients with FGFR3-expressing solid tumors.

Start Date20 Apr 2022

Sponsor / Collaborator

Fusion Pharmaceuticals, Inc.

NL-OMON21615 / SuspendedNot Applicable

The neurocognitive functioning and behaviour of children aged six to twelve years with a syndromic or complex craniosynostosis.

Start Date01 Jan 2008

Sponsor / Collaborator-

NCT00106977 / CompletedNot ApplicableIIT

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss.
The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome.
Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures:
Review of medical records and test results.
Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies.
Physical, neurological, ear, nose and throat, dental, and eye examinations.
Neuropsychological testing to assess cognitive thinking abilities.
Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to measure brain waves in response to certain conditions.
MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields.
MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images.
CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied.
Dental evaluation with x-rays.
Skeletal survey (x-rays of all bones of the body).
Developmental assessment of IQ testing.
Blood tests for research purposes. A cell line may be established for use in future research.
Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet.
Other consultations or tests as clinically indicated

Start Date31 Mar 2005

Sponsor / Collaborator

National Human Genome Research Institute

100 Clinical Results associated with Muenke Syndrome

100 Translational Medicine associated with Muenke Syndrome

0 Patents (Medical) associated with Muenke Syndrome

199

Literatures (Medical) associated with Muenke Syndrome

01 Feb 2024·Birth defects research

Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.

Article

Author: Pia Vuola ; Niklas Pakkasjärvi ; Annukka Ritvanen ; Arja Heliövaara ; Erkki Tukiainen ; Mika Gissler

BACKGROUND:

Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.

METHODS:

We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation.

RESULTS:

Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses.

CONCLUSIONS:

The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.

29 Nov 2023·Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Automated three-dimensional analysis of facial asymmetry in patients with syndromic coronal synostosis: A retrospective study.

Article

Author: Tsun Man Choi ; Xianjing Liu ; Tareq Abdel-Alim ; Marie-Lise van Veelen ; Irene Margreet Jacqueline Mathijssen ; Eppo Bonne Wolvius ; Gennady Vasilievich Roshchupkin

Craniosynostosis, characterized by premature fusion of one or more cranial sutures, results in a distorted skull shape. Only three studies have assessed facial asymmetry manually in unicoronal synostosis patients. It is therefore important to understand how uni- and bicoronal synostosis affect facial asymmetry with a minimum risk of human bias. An automated algorithm was developed to quantify facial asymmetry from three-dimensional images, generating a mean facial asymmetry (MFA) value in millimeters to reflect the degree of asymmetry. The framework was applied to analyze postoperative 3D images of syndromic patients (N = 35) diagnosed with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis with respect to MFA values from a healthy control group (N = 89). Patients demonstrated substantially higher MFA values than controls: Muenke syndrome (unicoronal 1.74 ± 0.40 mm, bicoronal 0.77 ± 0.21 mm), Saethre-Chotzen syndrome (unicoronal 1.15 ± 0.20 mm, bicoronal 0.69 ± 0.16 mm), and TCF12-related craniosynostosis (unicoronal 1.40 ± 0.51 mm, bicoronal 0.66 ± 0.05 mm), compared with controls (0.49 ± 0.12 mm). Longitudinal analysis identified an increasing MFA trend in unicoronal synostosis patients. Our study revealed higher MFA in syndromic patients with uni- and bicoronal synostosis compared with controls, with the most pronounced MFA in Muenke syndrome patients with unilateral synostosis. Bicoronal synostosis patients demonstrated higher facial asymmetry than expected given the condition's symmetrical presentation.

01 Jul 2023·The British journal of radiology

Prenatal diagnosis of bone dysplasias.

Review

Author: Gen Nishimura ; Atsuhiko Handa ; Osamu Miyazaki ; Yuko Tsujioka ; Jun Murotsuki ; Hideaki Sawai ; Takahiro Yamada ; Yutaka Kozuma ; Yuichiro Takahashi ; Katsunori Ozawa ; Ritusuko Pooh ; Masakatsu Sase

Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases. However, imaging examinations remain critical for the final diagnosis of bone dysplasias because molecular testing only shows genetic variants, and not their pathogenicity - most variants are clinically insignificant. Bone dysplasias are typically suspected when limb shortening is identified by screening ultrasound. Further assessment can be followed by more detailed ultrasound, magnetic resonance imaging (MRI), and CT. Based on these data, rational decision-making is feasible, even when the definitive prenatal diagnosis is not feasible. Here, we highlight key images of common bone dysplasias obtained by currently available modalities.

News (Medical) associated with Muenke Syndrome

21 Sep 2023

·www.prnewswire.com

Tyra Biosciences Announces Oral Presentations on TYRA-300 for Achondroplasia at the ASBMR and ASHG 2023 Annual Meetings

CARLSBAD, Calif., Sept. 21, 2023 /PRNewswire/ -- Tyra Biosciences, Inc. (Nasdaq: TYRA), a clinical-stage biotechnology company focused on developing next-generation precision medicines that target large opportunities in Fibroblast Growth Factor Receptor (FGFR) biology, today announced that TYRA will deliver oral presentations on TYRA-300 for achondroplasia at the American Society for Bone and Mineral Research (ASBMR) and the American Society of Human Genetics (ASHG) 2023 annual meetings. ASBMR is taking place October 13-16, 2023, in Vancouver, BC, Canada and ASHG is taking place November 1-5, 2023, in Washington, DC. ASBMR presentation details: Title: "TYRA-300 Demonstrates Significant Increases in Growth and Bone Length in a Mouse Model of FGFR3-Related Skeletal Dysplasia" Presentation Number: 1077 Session: Oral Presentations: Skeletal Development and Disease Presentation Date/Time: Sunday, October 15, 2023, 10:00 AM TYRA Presenter: Ronald Swanson, Ph.D., Chief Scientific Officer ASHG presentation details: Title: "TYRA-300 Demonstrates Significant Increases in Growth and Bone Length in a Mouse Model of FGFR3-Related Skeletal Dysplasia" Session: Oral Presentations: Precision prescription: The therapeutic potential of ASOs and small molecules for genetic disorders Presentation Date/Time: Friday, November 3, 2023, 12:00 PM TYRA Presenter: Jacqueline H. Starrett, PhD, Associate Director, In Vivo Pharmacology More information on the annual meetings can be found below: ASBMR 2023 Annual Meeting - American Society for Bone and Mineral Research ASHG 2023 Scientific Program and Schedule of Events - ASHG The presentation materials will be made available via the For Investors page on the Investor section of the TYRA website. About TYRA-300 TYRA-300 is the Company's lead precision medicine program stemming from its in-house SNÅP platform. TYRA-300 is an investigational, oral, FGFR3-selective inhibitor currently in development for the treatment of cancer and skeletal dysplasias including achondroplasia. TYRA-300 is being evaluated in a multi-center, open label Phase 1/2 clinical study, SURF301 ( Study in Untreated and Resistant FGFR3+ Advanced Solid Tumors). SURF301 (NCT05544552) was designed to determine the optimal and maximum tolerated doses (MTD) and the recommended Phase 2 dose (RP2D) of TYRA-300, as well as to evaluate the preliminary antitumor activity of TYRA-300. SURF301 is currently enrolling adults with advanced urothelial carcinoma and other solid tumors with FGFR3 gene alterations. In skeletal dysplasias, TYRA-300 has demonstrated positive preclinical results and the Company expects to submit an IND for the initiation of a Phase 2 clinical study in pediatric achondroplasia in 2024. About Tyra Biosciences Tyra Biosciences, Inc. (Nasdaq: TYRA) is a clinical-stage biotechnology company focused on developing next-generation precision medicines that target large opportunities in FGFR biology. The Company's in-house precision medicine platform, SNÅP, enables rapid and precise drug design through iterative molecular SNÅPshots that help predict genetic alterations most likely to cause acquired resistance to existing therapies. TYRA's initial focus is on applying its accelerated small molecule drug discovery engine to develop therapies in targeted oncology and genetically defined conditions. TYRA is based in Carlsbad, CA. For more information about our science, pipeline and people, please visit and engage with us on LinkedIn. Contact: Amy Conrad [email protected] SOURCE Tyra Biosciences

Clinical ResultPhase 1

22 Feb 2023

·www.prnewswire.com

Tyra Biosciences to Present at Upcoming Investor Conferences

CARLSBAD, Calif., Feb. 22, 2023 /PRNewswire/ -- Tyra Biosciences, Inc. (Nasdaq: TYRA), a precision oncology company focused on developing purpose-built therapies to overcome tumor resistance and improve outcomes for patients with cancer, today announced that management will present at the following investor conferences: Cowen 43rd Annual Healthcare Conference Todd Harris, CEO of TYRA, will participate in a fireside chat on Tuesday, March 7, 2023 at 10:30 am ET Oppenheimer 33rd Annual Healthcare Conference Mr. Harris will virtually present a company overview on Wednesday, March 15, at 12:00 pm ET Live and archived webcasts of the events will be available via the For Investors page on the Investor section of the TYRA website. About Tyra Biosciences Tyra Biosciences, Inc. is a precision oncology company focused on developing purpose-built therapies to overcome tumor resistance and improve outcomes for patients with cancer. TYRA's proprietary in-house discovery platform, SNÅP, enables the rapid and precise refinement of structural design through iterative molecular SNÅPshots that help predict genetic alterations most likely to cause acquired resistance to existing therapies. Leveraging SNÅP, TYRA is developing a pipeline of selective inhibitors of Fibroblast Growth Factor Receptors (FGFR), which are altered in approximately 7% of all cancers. TYRA-300 is an FGFR3 selective inhibitor for oncology. TYRA-200 is an FGFR1/2/3 inhibitor with potency against FGFR2 fusions, molecular brake mutations and gatekeeper resistance that TYRA is developing initially in intrahepatic cholangiocarcinoma. TYRA is also targeting achondroplasia and other FGFR3-related skeletal dysplasias and FGFR4 and RET (REarranged during Transfection kinase) driven cancers. TYRA is based in Carlsbad, CA. For more information about our science, pipeline and people, please visit and engage with us on LinkedIn. Contact: Amy Conrad [email protected] SOURCE Tyra Biosciences

22 Feb 2023

·www.biospace.com

Tyra Biosciences to Present at Upcoming March 2023 Investor Conferences

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