Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

Johanna H. van der Lee; Jonathan Morton; Heather R. Adams; Lorne Clarke; Julie B. Eisengart; Maria L. Escolar; Roberto Giugliani; Paul Harmatz; Melissa Hogan; Shauna Kearney; Joseph Muenzer; Nicole Muschol; Stewart Rust; Benjamin R. Saville; Margaret Semrud-Clikeman; Raymond Wang; Elsa Shapiro

doi:10.1016/j.ymgme.2020.08.007

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

Johanna H. van der Lee, Jonathan Morton, Heather R. Adams, Lorne Clarke, Julie B. Eisengart, Maria L. Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, Shauna Kearney, Joseph Muenzer, Nicole Muschol, Stewart Rust, Benjamin R. Saville, Margaret Semrud-Clikeman, Raymond Wang, Elsa Shapiro

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

27 Scopus citations

Abstract

Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

Original language	English (US)
Pages (from-to)	181-196
Number of pages	16
Journal	Molecular Genetics and Metabolism
Volume	131
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2020.08.007
State	Published - Sep 1 2020

Bibliographical note

Funding Information:
Funding support for this article and for the consensus conference was provided by the National MPS Society, Durham, NC. The following companies provided funding for the National MPS Society to organize this meeting: Abeona Therapeutics, Allievex, Amicus Therapeutics, BioMarin, bluebird bio, Denali Therapeutics, JCR Pharmaceutical, Orchard Therapeutics, ReGenXBio, Sanofi Genzyme, Seelos Therapeutics, Takeda and Ultragenyx. None of the companies that provided support to the National MPS Society had any role in the design, conduct or outcomes of the Delphi consensus process.Julie Eisengart has received research support from Lysogene, Sangamo and Shire/Takeda; consulting fees from ArmaGen, Denali Therapeutics, JCR Pharmaceutical, Orchard Therapeutics, ReGenXBio and Shire/Takeda; and honoraria for advisory boards for Amicus Therapeutics, bluebird bio, Orchard Therapeutics, ReGenXBio, Sanofi Genzyme and Shire/Takeda.Paul Harmatz has received research support for studies, served on scientific advisory boards, and provided consulting support for Aeglea Biotherapeutics, Alexion, Amicus Therapeutics, Armagen, Ascendis Pharma, BioMarin, Chiesi, Denali Therapeutics, Homology Medicines, Inventiva Pharma, JCR Pharmaceutical, Orphazyme, Paradigm BioPharma, PTC Therapeutics, QED, ReGenXbio, Sangamo, Sanofi Genzyme, Sobi and Shire/Takeda.Melissa Hogan is a principal consultant with Doulots, LLC through which she has received consulting fees from Denali Therapeutics and Seelos Therapeutics. She has also received stipends and expenses in accordance with her son's participation in a clinical trial and its extension sponsored by Shire (now Takeda).Nicole Muschol has received consulting fees from BioMarin, Chiesi, Lysogene, Sanofi Genzyme, Shire/Takeda and Sobi; received grant/research support from BioMarin, Sanofi Genzyme and Shire/Takeda; and received honoraria/travel support from Actelion, Amicus Therapeutics, BioMarin, Sanofi Genzyme and Shire/Takeda.

Funding Information:
Funding support for this article and for the consensus conference was provided by the National Mucopolysaccharidosis Society , Durham, NC. The following companies provided funding for the National MPS Society to organize this meeting: Abeona Therapeutics , Allievex , Amicus Therapeutics , BioMarin , bluebird bio , Denali Therapeutics , JCR Pharmaceutical , Orchard Therapeutics , ReGenXBio , Sanofi Genzyme , Seelos Therapeutics , Takeda and Ultragenyx . None of the companies that provided support to the National MPS Society had any role in the design, conduct or outcomes of the Delphi consensus process.

Publisher Copyright:
© 2020 The Authors

Keywords

Behavior
Clinical trial
Cognitive
Mucopolysaccharidoses
Protocol
Social-emotional

Access

10.1016/j.ymgme.2020.08.007

OpenUrl availability

Full text

Cite this

van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Eisengart, J. B., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Kearney, S., Muenzer, J., Muschol, N., Rust, S., Saville, B. R., Semrud-Clikeman, M., Wang, R., & Shapiro, E. (2020). Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. Molecular Genetics and Metabolism, 131(1-2), 181-196. https://doi.org/10.1016/j.ymgme.2020.08.007

van der Lee, JH, Morton, J, Adams, HR, Clarke, L, Eisengart, JB, Escolar, ML, Giugliani, R, Harmatz, P, Hogan, M, Kearney, S, Muenzer, J, Muschol, N, Rust, S, Saville, BR, Semrud-Clikeman, M, Wang, R & Shapiro, E 2020, 'Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints', Molecular Genetics and Metabolism, vol. 131, no. 1-2, pp. 181-196. https://doi.org/10.1016/j.ymgme.2020.08.007

@article{b5bf7275f0c34f36817000e379e488e1,

title = "Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints",

abstract = "Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.",

keywords = "Behavior, Clinical trial, Cognitive, Mucopolysaccharidoses, Protocol, Social-emotional",

author = "{van der Lee}, {Johanna H.} and Jonathan Morton and Adams, {Heather R.} and Lorne Clarke and Eisengart, {Julie B.} and Escolar, {Maria L.} and Roberto Giugliani and Paul Harmatz and Melissa Hogan and Shauna Kearney and Joseph Muenzer and Nicole Muschol and Stewart Rust and Saville, {Benjamin R.} and Margaret Semrud-Clikeman and Raymond Wang and Elsa Shapiro",

note = "Funding Information: Funding support for this article and for the consensus conference was provided by the National MPS Society, Durham, NC. The following companies provided funding for the National MPS Society to organize this meeting: Abeona Therapeutics, Allievex, Amicus Therapeutics, BioMarin, bluebird bio, Denali Therapeutics, JCR Pharmaceutical, Orchard Therapeutics, ReGenXBio, Sanofi Genzyme, Seelos Therapeutics, Takeda and Ultragenyx. None of the companies that provided support to the National MPS Society had any role in the design, conduct or outcomes of the Delphi consensus process.Julie Eisengart has received research support from Lysogene, Sangamo and Shire/Takeda; consulting fees from ArmaGen, Denali Therapeutics, JCR Pharmaceutical, Orchard Therapeutics, ReGenXBio and Shire/Takeda; and honoraria for advisory boards for Amicus Therapeutics, bluebird bio, Orchard Therapeutics, ReGenXBio, Sanofi Genzyme and Shire/Takeda.Paul Harmatz has received research support for studies, served on scientific advisory boards, and provided consulting support for Aeglea Biotherapeutics, Alexion, Amicus Therapeutics, Armagen, Ascendis Pharma, BioMarin, Chiesi, Denali Therapeutics, Homology Medicines, Inventiva Pharma, JCR Pharmaceutical, Orphazyme, Paradigm BioPharma, PTC Therapeutics, QED, ReGenXbio, Sangamo, Sanofi Genzyme, Sobi and Shire/Takeda.Melissa Hogan is a principal consultant with Doulots, LLC through which she has received consulting fees from Denali Therapeutics and Seelos Therapeutics. She has also received stipends and expenses in accordance with her son's participation in a clinical trial and its extension sponsored by Shire (now Takeda).Nicole Muschol has received consulting fees from BioMarin, Chiesi, Lysogene, Sanofi Genzyme, Shire/Takeda and Sobi; received grant/research support from BioMarin, Sanofi Genzyme and Shire/Takeda; and received honoraria/travel support from Actelion, Amicus Therapeutics, BioMarin, Sanofi Genzyme and Shire/Takeda. Funding Information: Funding support for this article and for the consensus conference was provided by the National Mucopolysaccharidosis Society , Durham, NC. The following companies provided funding for the National MPS Society to organize this meeting: Abeona Therapeutics , Allievex , Amicus Therapeutics , BioMarin , bluebird bio , Denali Therapeutics , JCR Pharmaceutical , Orchard Therapeutics , ReGenXBio , Sanofi Genzyme , Seelos Therapeutics , Takeda and Ultragenyx . None of the companies that provided support to the National MPS Society had any role in the design, conduct or outcomes of the Delphi consensus process. Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = sep,

day = "1",

doi = "10.1016/j.ymgme.2020.08.007",

language = "English (US)",

volume = "131",

pages = "181--196",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "1-2",

}

TY - JOUR

T1 - Therapy development for the mucopolysaccharidoses

T2 - Updated consensus recommendations for neuropsychological endpoints

AU - van der Lee, Johanna H.

AU - Morton, Jonathan

AU - Adams, Heather R.

AU - Clarke, Lorne

AU - Eisengart, Julie B.

AU - Escolar, Maria L.

AU - Giugliani, Roberto

AU - Harmatz, Paul

AU - Hogan, Melissa

AU - Kearney, Shauna

AU - Muenzer, Joseph

AU - Muschol, Nicole

AU - Rust, Stewart

AU - Saville, Benjamin R.

AU - Semrud-Clikeman, Margaret

AU - Wang, Raymond

AU - Shapiro, Elsa

N1 - Funding Information: Funding support for this article and for the consensus conference was provided by the National MPS Society, Durham, NC. The following companies provided funding for the National MPS Society to organize this meeting: Abeona Therapeutics, Allievex, Amicus Therapeutics, BioMarin, bluebird bio, Denali Therapeutics, JCR Pharmaceutical, Orchard Therapeutics, ReGenXBio, Sanofi Genzyme, Seelos Therapeutics, Takeda and Ultragenyx. None of the companies that provided support to the National MPS Society had any role in the design, conduct or outcomes of the Delphi consensus process.Julie Eisengart has received research support from Lysogene, Sangamo and Shire/Takeda; consulting fees from ArmaGen, Denali Therapeutics, JCR Pharmaceutical, Orchard Therapeutics, ReGenXBio and Shire/Takeda; and honoraria for advisory boards for Amicus Therapeutics, bluebird bio, Orchard Therapeutics, ReGenXBio, Sanofi Genzyme and Shire/Takeda.Paul Harmatz has received research support for studies, served on scientific advisory boards, and provided consulting support for Aeglea Biotherapeutics, Alexion, Amicus Therapeutics, Armagen, Ascendis Pharma, BioMarin, Chiesi, Denali Therapeutics, Homology Medicines, Inventiva Pharma, JCR Pharmaceutical, Orphazyme, Paradigm BioPharma, PTC Therapeutics, QED, ReGenXbio, Sangamo, Sanofi Genzyme, Sobi and Shire/Takeda.Melissa Hogan is a principal consultant with Doulots, LLC through which she has received consulting fees from Denali Therapeutics and Seelos Therapeutics. She has also received stipends and expenses in accordance with her son's participation in a clinical trial and its extension sponsored by Shire (now Takeda).Nicole Muschol has received consulting fees from BioMarin, Chiesi, Lysogene, Sanofi Genzyme, Shire/Takeda and Sobi; received grant/research support from BioMarin, Sanofi Genzyme and Shire/Takeda; and received honoraria/travel support from Actelion, Amicus Therapeutics, BioMarin, Sanofi Genzyme and Shire/Takeda. Funding Information: Funding support for this article and for the consensus conference was provided by the National Mucopolysaccharidosis Society , Durham, NC. The following companies provided funding for the National MPS Society to organize this meeting: Abeona Therapeutics , Allievex , Amicus Therapeutics , BioMarin , bluebird bio , Denali Therapeutics , JCR Pharmaceutical , Orchard Therapeutics , ReGenXBio , Sanofi Genzyme , Seelos Therapeutics , Takeda and Ultragenyx . None of the companies that provided support to the National MPS Society had any role in the design, conduct or outcomes of the Delphi consensus process. Publisher Copyright: © 2020 The Authors

PY - 2020/9/1

Y1 - 2020/9/1

N2 - Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

AB - Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

KW - Behavior

KW - Clinical trial

KW - Cognitive

KW - Mucopolysaccharidoses

KW - Protocol

KW - Social-emotional

UR - http://www.scopus.com/inward/record.url?scp=85090484387&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85090484387&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2020.08.007

DO - 10.1016/j.ymgme.2020.08.007

M3 - Article

C2 - 32917509

AN - SCOPUS:85090484387

SN - 1096-7192

VL - 131

SP - 181

EP - 196

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1-2

ER -

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

Abstract

Bibliographical note

Keywords

Access

OpenUrl availability

Other files and links

Fingerprint

Cite this