Research ethics documents

Members & clinical centres

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Principal Investigator: Dianna M. Milewicz, MD, PhD

Co-Investigators: Reed Pyeritz, MD, PhD; Guillaume Jondeau, MD, PhD; Catherine Boileau, PhD; Lesley Ades, MD, HGSA, FRACP; Eloisa Arbustini, MD; Alan Braverman, MD; Nanette Alvarez, MD; Anne H. Child, MD, MRCP, FRCP; Bo Carlberg, MD, PhD; Ismail El-Hamamsy, MD, PhD, FRCSC; David Chitayat, MD, FABMG, FACMG, FCCMG, FRCPC; Anne De Paepe, MD, PhD; Julie De Backer, MD, PhD; Richard B. Devereux, MD; Arturo Evangalista, MD; Bridget Fernandez, MD, FRCPC, FCCMG; Josephine Grima, PhD; Maarten Groenink, MD, PhD; Gabrielle Horne, MD, PhD; Richmond Jeremy, MB BS PhD FRACP FACC FAHA FESC FCSANZ GAICD; Yskert von Kodolitsch, MD; Ronald Lacro, MD; Scott A. LeMaire, MD; Alex Levin, MD; David Liang, MD, PhD; Irene Maumenee, MD; Vivienne McConnell, MD; Rocio Moran, MD; Hiroko Morisaki, MD, PhD; Takayuki Morisaki, MD, PhD; Shaine A. Morris, MD; Alex Pitcher, MRCP, PhD; Nancy Poirier, MD; Francesco Ramirez, PhD; Peter Robinson, MD; Dieter Reinhardt, PhD; Meike Rybczynski, MD; George Sandor, MD; Lynn Sakai, PhD; Denver Sallee, MD; Sherene Shalhub, MD, MPH, FACS; Anji Yetman, MD; Michael N. Singh, MD; Bert Callewaert, MD, PhD; Ellen S. Regalado, MS, CGC; Marion A. Hofmann Bowman, MD, PhD; Fabien Labombarda, MD; Laurence Faivre, MD, PhD; Claire Bouleti, MD, PhD

Study Coordinator: Ellen S. Regalado, MS CGC; Ellen Hostetler; Stephanie Wallace, MS CGC Population: 5000 individuals of all ages, sex, race or ethnicity with heritable thoracic aortic disease (or HTAD) due to a known or unknown gene mutation Number of Sites: UTHealth is one of two lead sites of this multi-site study Study Duration: 20 years Subject Duration: 20 years

The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with heritable thoracic aortic disease (HTAD) with causal mutations in the known HTAD genes and better define the natural and clinical history and phenotypic features associated with mutations of these genes as well as examine genetic and environmental modifiers and other biomarkers of HTAD. Recruitment of large numbers of patients from multiple sites world-wide will improve the precision of data used to predict disease risks. The consortium will also identify novel genes for HTAD through sharing sequencing data from these patients and recruitment of HTAD patients without a known gene. The data from MAC will provide the critical clinical information for precise management of aortic and other cardiovascular complications, with the goal of improving the outcome of patients with genetically triggered, lethal vascular diseases.

For those interested in participating in or recruiting patients for MAC, the study protocol and research ethics documents are available for review.

Clinician–researchers must apply for MAC membership and agree to recruit eligible patients.

If you have any questions about the protocol or the registry, please contact: Mac@uth.tmc.edu or MACaorta@gadacanada.ca

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