Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Therapeutics Committee

doi:10.1016/j.gim.2023.100831

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Therapeutics Committee

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Original language	English (US)
Article number	100831
Journal	Genetics in Medicine
Volume	25
Issue number	6
DOIs	https://doi.org/10.1016/j.gim.2023.100831
State	Published - Jun 2023

Keywords

Drug development
Drug toxicity
Gene therapy
Genetic disease
Long-term follow-up

ASJC Scopus subject areas

Genetics(clinical)

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10.1016/j.gim.2023.100831

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@article{5a8dbfe9ee494813bc0ef1a0bc56b350,

title = "Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)",

keywords = "Drug development, Drug toxicity, Gene therapy, Genetic disease, Long-term follow-up",

author = "{ACMG Therapeutics Committee} and Pe{\~n}a, {Loren D.M.} and Burrage, {Lindsay C.} and Enns, {Gregory M.} and Esplin, {Edward D.} and Cary Harding and Mendell, {Jerry R.} and Niu, {Zhiyv (Neal)} and Curt Scharfe and Timothy Yu and Koeberl, {Dwight D.}",

note = "Funding Information: Funding and support listed here did not support the development of this document unless included in the acknowledgments section. L.D.M.P. has received compensation for sponsored travel (Sanofi US), advisory board participation (ModernaTx; Sanofi US; Ultragenyx Pharmaceutical Inc; AveXis, Inc; Orphazyme; BioMarin Pharmaceutical Inc), and research support (ModernaTx; Cyclo Therapeutics, Inc; Takeda; Mallinckrodt Pharmaceuticals; Orphazyme) in the past 4 years. G.M.E. has served as a consultant to AllStripes; Codexis, Inc; Glycomine, Inc; Hemoshear Therapeutics; Homology Medicines, Inc; Horizon Therapeutics; M6P Therapeutics; Moderna, Inc; Travere Therapeutics, Inc; and Ultragenyx Pharmaceutical Inc; is the cofounder of Evvia Therapeutics; and serves on the Data Monitoring Committees for clinical trials for Abliva, Amicus Therapeutics, Audentes Therapeutics, BioMarin Pharmaceutical Inc, Modis Therapeutics, Paradigm Biopharma Ltd, Passage Bio, and RegenxBio. E.D.E. is a stockholder of Invitae Corporation and a scientific advisory board member and stockholder at Taproot Health. T.Y. has served as a consultant for BioMarin Pharmaceutical Inc. D.D.K. has served as a consultant for Sangamo Therapeutics, Inc; Sanofi; Amicus Therapeutics; Takeda; and Vertex Pharmaceuticals; has received grant support from Viking Therapeutics , Genzyme Sanofi , Roivant Rare Diseases, and Amicus Therapeutics; and has equity in Askbio, which is developing gene therapy for Pompe disease. All other authors declare no conflicts of interest.",

year = "2023",

month = jun,

doi = "10.1016/j.gim.2023.100831",

language = "English (US)",

volume = "25",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams and Wilkins",

number = "6",

}

TY - JOUR

T1 - Contributions from medical geneticists in clinical trials of genetic therapies

T2 - A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

AU - ACMG Therapeutics Committee

AU - Peña, Loren D.M.

AU - Burrage, Lindsay C.

AU - Enns, Gregory M.

AU - Esplin, Edward D.

AU - Harding, Cary

AU - Mendell, Jerry R.

AU - Niu, Zhiyv (Neal)

AU - Scharfe, Curt

AU - Yu, Timothy

AU - Koeberl, Dwight D.

N1 - Funding Information: Funding and support listed here did not support the development of this document unless included in the acknowledgments section. L.D.M.P. has received compensation for sponsored travel (Sanofi US), advisory board participation (ModernaTx; Sanofi US; Ultragenyx Pharmaceutical Inc; AveXis, Inc; Orphazyme; BioMarin Pharmaceutical Inc), and research support (ModernaTx; Cyclo Therapeutics, Inc; Takeda; Mallinckrodt Pharmaceuticals; Orphazyme) in the past 4 years. G.M.E. has served as a consultant to AllStripes; Codexis, Inc; Glycomine, Inc; Hemoshear Therapeutics; Homology Medicines, Inc; Horizon Therapeutics; M6P Therapeutics; Moderna, Inc; Travere Therapeutics, Inc; and Ultragenyx Pharmaceutical Inc; is the cofounder of Evvia Therapeutics; and serves on the Data Monitoring Committees for clinical trials for Abliva, Amicus Therapeutics, Audentes Therapeutics, BioMarin Pharmaceutical Inc, Modis Therapeutics, Paradigm Biopharma Ltd, Passage Bio, and RegenxBio. E.D.E. is a stockholder of Invitae Corporation and a scientific advisory board member and stockholder at Taproot Health. T.Y. has served as a consultant for BioMarin Pharmaceutical Inc. D.D.K. has served as a consultant for Sangamo Therapeutics, Inc; Sanofi; Amicus Therapeutics; Takeda; and Vertex Pharmaceuticals; has received grant support from Viking Therapeutics , Genzyme Sanofi , Roivant Rare Diseases, and Amicus Therapeutics; and has equity in Askbio, which is developing gene therapy for Pompe disease. All other authors declare no conflicts of interest.

PY - 2023/6

Y1 - 2023/6

KW - Drug development

KW - Drug toxicity

KW - Gene therapy

KW - Genetic disease

KW - Long-term follow-up

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Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Keywords

ASJC Scopus subject areas

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