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Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)

NCT ID: NCT01630460

Last Updated: 2024-12-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-04-30

Study Completion Date

2025-12-31

Brief Summary

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CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find mechanisms to slow down bone deposition in CMD patients.

Detailed Description

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CMD is a very rare bone disorder that affects mostly bones of the head (=cranial bones) but also long (=tubular) bones. Therefore, CMD has been added to the class of craniotubular bone disorders. There are a number of disorders in this group and sometimes they are difficult to distinguish. Typical signs for CMD are the lifelong bone deposition in bones of the face and head (=progressive craniofacial hyperostosis) and the widening of the ends of long bones (=metaphyseal flaring). Typical facial characteristics are wide-set eyes and a prominent jaw (=mandible). CMD is sometimes diagnosed in infants. The best way to confirm diagnosis is by molecular genetics.

Conditions

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Craniometaphyseal Dysplasia

Keywords

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Craniometaphyseal dysplasia bone hyperostosis osteoblast osteoclast

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* CMD; unaffected individuals only if part of a participating CMD family

Exclusion Criteria

* No CMD; unaffected individuals only as part of a participating CMD family
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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UConn Health

OTHER

Sponsor Role lead

Responsible Party

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Ernst Reichenberger

Assoc. Prof.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Ernst J Reichenberger, PhD

Role: PRINCIPAL_INVESTIGATOR

UConn Health

Locations

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University of Connecticut Health Center

Farmington, Connecticut, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Ernst J Reichenberger, PhD

Role: CONTACT

Phone: 860-679-2062

Email: [email protected]

Facility Contacts

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Ernst J Reichenberger, PhD

Role: primary

References

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Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. Clin Genet. 2012 Jan;81(1):93-5. doi: 10.1111/j.1399-0004.2011.01700.x. No abstract available.

Reference Type RESULT
PMID: 22150416 (View on PubMed)

Chen IP, Wang L, Jiang X, Aguila HL, Reichenberger EJ. A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). Hum Mol Genet. 2011 Mar 1;20(5):948-61. doi: 10.1093/hmg/ddq541. Epub 2010 Dec 13.

Reference Type RESULT
PMID: 21149338 (View on PubMed)

Chen IP, Wang CJ, Strecker S, Koczon-Jaremko B, Boskey A, Reichenberger EJ. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.

Reference Type RESULT
PMID: 19257826 (View on PubMed)

Reichenberger E, Chen IP. Autosomal Dominant Craniometaphyseal Dysplasia. 2007 Aug 27 [updated 2025 Aug 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1461/

Reference Type RESULT
PMID: 20301634 (View on PubMed)

Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16.

Reference Type RESULT
PMID: 11326338 (View on PubMed)

Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.

Reference Type RESULT
PMID: 23951358 (View on PubMed)

Dutra EH, Chen IP, Reichenberger EJ. Dental abnormalities in a mouse model for craniometaphyseal dysplasia. J Dent Res. 2013 Feb;92(2):173-9. doi: 10.1177/0022034512468157. Epub 2012 Nov 15.

Reference Type RESULT
PMID: 23160629 (View on PubMed)

Chen IP, Tadinada A, Dutra EH, Utreja A, Uribe F, Reichenberger EJ. Dental Anomalies Associated with Craniometaphyseal Dysplasia. J Dent Res. 2014 Jun;93(6):553-8. doi: 10.1177/0022034514529304. Epub 2014 Mar 24.

Reference Type RESULT
PMID: 24663682 (View on PubMed)

Chen IP, Luxmi R, Kanaujiya J, Hao Z, Reichenberger EJ. Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. Stem Cell Reports. 2017 Nov 14;9(5):1369-1376. doi: 10.1016/j.stemcr.2017.09.016. Epub 2017 Oct 19.

Reference Type RESULT
PMID: 29056330 (View on PubMed)

Kanaujiya J, Bastow E, Luxmi R, Hao Z, Zattas D, Hochstrasser M, Reichenberger EJ, Chen IP. Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. Sci Rep. 2018 Oct 24;8(1):15710. doi: 10.1038/s41598-018-34157-5.

Reference Type RESULT
PMID: 30356088 (View on PubMed)

Fujii Y, Kozak E, Dutra E, Varadi A, Reichenberger EJ, Chen IP. Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia. J Bone Miner Res. 2020 Oct;35(10):2070-2081. doi: 10.1002/jbmr.4110. Epub 2020 Jul 12.

Reference Type RESULT
PMID: 33463757 (View on PubMed)

Related Links

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https://health.uconn.edu/reichenberger-lab/

study website

Other Identifiers

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UCHC03-008CMD

Identifier Type: -

Identifier Source: org_study_id