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On September 26-27, approximately 370 researchers, physicians, and young investigators met in Montreal, Quebec, Canada to discuss the latest research related to rare bone diseases. This meeting, chaired by Brittle Bone Disorders Consortium Principal Investigator Dr. Brendan Lee of Baylor College of Medicine and co-chaired by Dr. Maurizio Pacifici of the Children’s Hospital of Philadelphia, was titled Mechanistic and Therapeutic Advances in Rare Skeletal Diseases. Over 30 speakers presented information on topics such as Next Generation Sequencing and Multi-Omic Approaches for Diagnosing Skeletal Diseases, Therapies on the Horizon and New Disease Targets, Targeting Signaling Pathways, and more.  

Thank you to the program co-chairs, planning committee, meeting organizers, sponsors, and other patient advocacy organizations that made this meeting a tremendous success! If you participated in this meeting, please be sure to provide your feedback here. For additional information on this program and future activities of the Rare Bone Disease Alliance, please visit rbdalliance.org.

 

RBDA crowd Brendan tracy charlene maurizio
Program Chair Dr. Brendan Lee, OIF CEO Tracy Hart,
Meeting Organizer Charlene Waldman, Program Co-Chair Dr. Maurizio Pacifici

 

YI slide young investigators RBDA

 

 

Mechanistic and Therapeutic Advances
in Rare Skeletal Diseases
A meeting in affiliation with the American Society for Bone and Mineral Research (ASBMR)

SEPTEMBER 26-27, 2018

Preceding the ASBMR Annual Meeting
Montreal, Canada

 

brendan lee headshot

Program Chair
Brendan Lee, MD, PhD
 Baylor College of Medicine 

pacifici maurizio

Program Co-Chair
Maurizio Pacifici, PhD
Children’s Hospital of Philadelphia


 
Program Committee:


yang chai
 Yang Chai, DDS, PhD 
USC
Michael Collins
 Michael Collins, MD 
NIDCR
matthew drake Matthew Drake, MD, PhD 
Mayo Clinic
deb krakow
 Deborah Krakow,  MD 
UCLA
Dr. Sandesh Nagamani.jpg
 Sandesh Nagamani, MD

Baylor College of Medicine



 



 

Meeting Agenda:

 

Wednesday, September 26

 

7:00 am - 7:50 am            Breakfast

7:50 am – 8:00 am            Welcome: Brendan Lee, MD, PhD, Baylor College of Medicine


8:00 am - 9:40 am            Session 1: Diagnostic Approach to Rare Skeletal Diseases

Moderator: Maurizio Pacifici, PhD, Children’s Hospital of Philadelphia
 

Next Generation Sequencing and Multi-Omic Approaches for Diagnosing Skeletal Diseases

Brendan Lee, MD, PhD, Baylor College of Medicine

Higher Order Chromatin Structure and Distal Genetic Interactions in the Diagnosis of Skeletal Diseases

Struan Grant, PhD, Children’s Hospital of Philadelphia

Radiographic and Ultrasound Imaging of Skeletal Diseases

Deborah Krakow, MD, University of California - Los Angeles

Past, Current and Future Biomarkers of the Skeleton

Charlotte Gistelinck, PhD, University of Washington

 

9:40 am - 9:55 am            Break


10:00 am - 12:05 pm      Session 2: Preclinical Models and Pathogenesis (Bones, Cartilage & Craniofacial)

                                            Moderator: Deborah Krakow, MD, University of California - Los Angeles

Fibrous Dysplasia

                                         Michael Collins, MD, National Institute of Dental and Craniofacial Research

BMP Signaling and Therapeutic Approaches
Aris Economides, PhD, Regeneron Pharmaceuticals and
Dinko Gonzalez Trotter, PhD, Regeneron Pharmaceuticals

Osteogenesis Imperfecta
Frank Rauch, MD, Shriners Hospital of Montreal

Progressive Heterotopic Ossification

Yingzi Yang, PhD, Harvard School of Dental Medicine

Hereditary Multiple Exostoses
Maurizio Pacifici, PhD, Children’s Hospital of Philadelphia

 

12:05 pm - 1:30 pm         Lunch & Poster Session 1

 

1:30 pm - 3:10 pm        Session 2 Continued
Moderator: Yang Chai, DDS, PhD, University of Southern California 

Fibrodysplasia Ossificans Progressiva
Eileen Shore, PhD, University of Pennsylvania

Craniosynostosis
Andrew Wilkie, FRS, FMedSci, FRCP, University of Oxford

Hypo-Oligodontia and Tooth Stem Cells

Ophir Klein, MD, PhD, University of California - San Francisco

Osteopetrosis

Anna Teti, PhD, University of L’Aquila

 

3:10 pm - 3:25 pm           Break

 

3:30 pm - 5:35 pm          Session 3: Therapies on the Horizon and New Disease Targets

Moderator: Michael Collins, MD, National Institute of Dental and Craniofacial Research 

Chemical Biology and Drug Discovery

Peter J. Brown, PhD, University of Toronto

Mensenchymal Stem Cells, Craniosynostosis and a Novel Molecular Mechanism in Regulating Cranial Suture Tissue Homeostasis

Yang Chai, DDS, PhD, University of Southern California

Stem Cells for Treatment of OI and the BOOSTB4 Trial (sponsored by the ICCBH)

Cecelia Gotherstrom, PhD, Karolinska Institutet

Gorham’s Disease
Denise Adams, MD, Boston Children’s Hospital

Melorheostosis
Timothy Bhattacharyya, MD, National Institute of Arthritis and Musculoskeletal and Skin Diseases
 

 

5:35 pm - 7:30 pm           Evening Reception/Poster Session 2


 

 

Thursday, September 27

 

7:00 am - 8:00 am            Breakfast

 

8:00 am - 9:40 am         Session 4: Targeting Signaling Pathways (Clinical)
Moderator: Matthew Drake, MD, PhD, Mayo Clinic

The Clinical Trial of Anti-TGFb in OI
Sandesh Nagamani, MD, Baylor College of Medicine

The Role of Sclerostin Inhibition in Bone
Andreas Grauer, MD, Amgen

FGF23 and X-Linked Hypophosphatemia

Thomas Carpenter, MD, Yale University

C-Naturietic Peptide & Achondroplasia

Julie Hoover Fong, MD, PhD, Johns Hopkins University

 

9:40 am - 9:55 am            Break

 

10:00 am - 12:05 pm      Session 5: Advances in Endpoints and Assessments (Preclinical & Clinical)

Moderator: Sandesh Nagamani, MD, Baylor College of Medicine

HR-pQCT Evaluation of Bone
Steven Boyd, PhD, University of Calgary

MRI Evaluation of Cartilage

Sharmila Majumdar, PhD, University of California - San Francisco

FDA Approach to Novel Endpoints

Theresa Kehoe, MD and Gemma Kuijpers, PhD, FDA

Novel Growth Plate Markers

William Horton, MD, Oregon Health Sciences University

Hypophosphatasia: What’s Next?
Michael Whyte, MD, Shriners Hospital - St. Louis

 

12:05 pm - 1:30 pm         Lunch and Poster Session 3

 

1:30 pm - 2:45 pm           Session 6: Current Industry Clinical Trials and Approach to Clinical Trials Phase 1 through Pivotal Phase 3 and Post-Approval Studies

Moderator: Michael Collins, MD, National Institute of Dental and Craniofacial Research

Burosumab Therapy in Children and Adults with XLH, from Discovery to Approval

Javier San Martin, MD, Ultragenyx

 

Addressing Scarcity and Heterogeneity in Drug Development for FOP

Scott Melis, MD, PhD, Regeneron

 

Fibrodysplasia Ossificans Progressiva: Use of a Natural History Study in the Design and Implementation of a Phase 3 Trial

Donna Grogan, MD, Clementia

 

Collaborative Use of a Patient Registry in the Design of a Phase 2 Study for a New Indication, Multiple Osteochondroma

Fei Shih, MD, PhD, Clementia

 

Clinical Development of Asfotase Alfa for the Treatment of Pediatric-Onset Hypophosphatasia
Tom Brown, PhD, Alexion 

 

Development of Setrusumab for Osteogenesis Imperfecta
Anthony Hall, MB, BS, BSc, Mereo Biopharma

 

2:45 pm - 3:45 pm           Industry and FDA Panel: All speakers above and FDA Representatives Theresa Kehoe, MD and Gemma Kuijpers, PhD

 

3:45 pm                            Conclusion – Brendan Lee, MD, PhD, Baylor College of Medicine

 

For additional information, contact waldmancharlene234@gmail.com


The Rare Bone Disease Alliance is a program of the Osteogenesis Imperfecta Foundation.

 

Click here to view the full meeting agenda, speaker information, and abstracts.


7:00 am - 7:50 am            Breakfast

 

7:50 am – 8:00 am            Welcome: Brendan Lee, MD, PhD, Baylor College of Medicine

8:00 am - 9:40 am            Session 1: Diagnostic Approach to Rare Skeletal Diseases 

Moderator: Maurizio Pacifici, PhD, Children’s Hospital of Philadelphia

Next Generation Sequencing and Multi-Omic Approaches for Diagnosing Skeletal Diseases

Brendan Lee, MD, PhD, Baylor College of Medicine

Higher Order Chromatin Structure and Distal Genetic Interactions in the Diagnosis of Skeletal Diseases

Struan Grant, PhD, Children’s Hospital of Philadelphia

Radiographic and Ultrasound Imaging of Skeletal Diseases

Deborah Krakow, MD, University of California - Los Angeles

Past, Current and Future Biomarkers of the Skeleton

Charlotte Gistelinck, PhD, University of Washington

 

9:40 am - 9:55 am            Break


10:00 am - 12:05 pm       Session 2: Preclinical Models and Pathogenesis (Bones, Cartilage & Craniofacial)

                                            Moderator: Deborah Krakow, MD, University of California - Los Angeles

                                            Fibrous Dysplasia

                                            Michael Collins, MD, National Institute of Dental and Craniofacial Research

BMP Signaling and Therapeutic Approaches
Aris Economides, PhD, Regeneron Pharmaceuticals and
Dinko Gonzalez Trotter, PhD, Regeneron Pharmaceuticals

Osteogenesis Imperfecta
Frank Rauch, MD, Shriners Hospital of Montreal

Progressive Heterotopic Ossification

Yingzi Yang, PhD, Harvard School of Dental Medicine

Hereditary Multiple Exostoses

Maurizio Pacifici, PhD, Children’s Hospital of Philadelphia

 

12:05 pm - 1:30 pm         Lunch & Poster Session 1

 

1:30 pm - 3:10 pm           Session 2 Continued
Moderator: Yang Chai,
DDS, PhD, University of Southern California 

Fibrodysplasia Ossificans Progressiva
Eileen Shore, PhD, University of Pennsylvania

Craniosynostosis
Andrew Wilkie, FRS, FMedSci, FRCP, University of Oxford

Hypo-Oligodontia and Tooth Stem Cells

Ophir Klein, MD, PhD, University of California - San Francisco

Osteopetrosis

Anna Teti, PhD, University of L’Aquila

 

3:10 pm - 3:25 pm           Break

 

3:30 pm - 5:35 pm           Session 3: Therapies on the Horizon and New Disease Targets

Moderator: Michael Collins, MD, National Institute of Dental and Craniofacial Research 

Chemical Biology and Drug Discovery

Peter J. Brown, PhD, University of Toronto

Dental Stem Cell Therapies

Yang Chai, DDS, PhD, University of Southern California

Stem Cells for Treatment of OI and the BOOSTB4 Trial (sponsored by the ICCBH)

Cecelia Gotherstrom, PhD, Karolinska Institutet

Gorham’s Disease
Denise Adams, MD, Boston Children’s Hospital

Melorheostosis
Timothy Bhattacharyya, MD, National Institute of Arthritis and Musculoskeletal and Skin Diseases
 

 

5:35 pm - 7:30 pm           Evening Reception/Poster Session 2

 

Thursday, September 27

 

7:00 am - 8:00 am            Breakfast

 

8:00 am - 9:40 am            Session 4: Targeting Signaling Pathways (Clinical)
Moderator: Matthew Drake, MD, PhD, Mayo Clinic

The Clinical Trial of Anti-TGFb in OI
Sandesh Nagamani, MD, Baylor College of Medicine

The Role of Sclerostin Inhibition in Bone
Andreas Grauer, MD, Amgen

FGF23 and X-Linked Hypophosphatemia

Thomas Carpenter, MD, Yale University

C-Naturietic Peptide & Achondroplasia

Julie Hoover Fong, MD, PhD, Johns Hopkins University

 

9:40 am - 9:55 am            Break

 

10:00 am - 12:05 pm       Session 5: Advances in Endpoints and Assessments (Preclinical & Clinical)

Moderator: Sandesh Nagamani, MD, Baylor College of Medicine

HR-pQCT Evaluation of Bone
Steven Boyd, PhD, University of Calgary

MRI Evaluation of Cartilage

Sharmila Majumdar, PhD, University of California - San Francisco

FDA Approach to Novel Endpoints

Theresa Kehoe, MD and Gemma Kuijpers, PhD, FDA

Novel Growth Plate Markers

William Horton, MD, Oregon Health Sciences University

Hypophosphatasia: What’s Next?

Michael Whyte, MD, Shriners Hospital - St. Louis

 

12:05 pm - 1:30 pm         Lunch and Poster Session 3

 


1:30 pm - 2:45 pm           Session 6: Current Industry Clinical Trials and Approach to Clinical Trials Phase 1 through Pivotal Phase 3 and Post-Approval Studies

Moderator: Michael Collins, MD, National Institute of Dental and Craniofacial Research

Burosumab Therapy in Children and Adults with XLH, from Discovery to Approval

Javier San Martin, MD, Ultragenyx

 

Addressing Scarcity and Heterogeneity in Drug Development for FOP

Scott Melis, MD, PhD, Regeneron

 

Fibrodysplasia Ossificans Progressiva: Use of a Natural History Study in the Design and Implementation of a Phase 3 Trial

Donna Grogan, MD, Clementia

 

Collaborative Use of a Patient Registry in the Design of a Phase 2 Study for a New Indication, Multiple Osteochondroma

Fei Shih, MD, PhD, Clementia

 

Clinical Development of Asfotase Alfa for the Treatment of Pediatric-Onset Hypophosphatasia

Tom Brown, PhD, Alexion 

 

2:45 pm - 3:45 pm           Industry and FDA Panel: All speakers above and FDA Representatives Theresa Kehoe, MD and Gemma Kuijpers, PhD

 

3:45 pm                             Conclusion – Brendan Lee, MD, PhD, Baylor College of Medicine

 

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