Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set

Ruben J Overduin¹, Andrea B Haijer-Schreuder¹, Frederiec K Withaar², Sarah C Grünert³, Jamas LaFreniere⁴, Enrique L Contreras⁵, Gayle W Temkin⁶, Blair Stone-Schneider⁴, Frédéric Vanneste⁷, Hanka Dekker⁸, Marieke J Fokkert-Wilts¹, Melanie M van der Klauw⁹, David A Weinstein¹⁰, Alessandro Rossi¹¹, Terry G J Derks¹²; GSD Value Consortium

Collaborators, Affiliations

Collaborators

GSD Value Consortium:
Alberto Ferriani, Alessandro Rossi, Allan Lund, Amani Husaineid, Ana Drole Torkar, Andrea Haijer-Schreuder, Anne Hugon, Anne Mei-Kwun Kwok, Blaire Stone-Schneider, Boelo G F D Boelens, Camilla Carøe, Carmen Rosano, Carolina Fischinger Moura De Souza, Damian Cohen, David Rodriguez-Buritica, Deberah Goldman, Denise Boss-Lagerwaard, Enrique Lande Contreras, Fatih Ezgu, Fred van Eenennaam, Frédéric Vanneste, Frederiec K Withaar, Gayle W Temkin, Hanka Dekker, Heather Saavedra, Helen Mundy, Ida Schwartz, Iris Ferrecchia, Jamas LaFreniere, Jana Šaligová, John Mitchell, Julieta Bonvin Sallago, Katie Ouellette, Klaudia Meszes, Louise Engelbrecht, Luisa Diogo, Magali Reyes-Apodaca, Malaya Mount, Marcia Makdisse, Marcus Landgren, María Clemente León, Marie-Cécile Nassogne, Marieke Fokkert-Wilts, Marjorie Dixon, Melanie M van der Klauw, Merve Koç Yekedüz, Mirela Adriana Borhan, Monika Williams, Nerea López Maldonado, Patricia Janeiro, Patricia Pilar Perez Mohand, Priya S Kishnani, Rani Singh, Rebecca Halligan, Rebecca Koch, Rebecca Riba-Wolman, René Santer, Ruben J Overduin, Sarah C Grünert, Steven Buijs, Sunita Bijarnia-Mahay, Terry G J Derks, Thomas Casswall, Ute Stachelhaus-Theimer, Yunkoo Kang

Affiliations

¹ Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands.
² UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands; Department of Medical Psychology, University Center of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
³ Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Faculty of Medicine, Freiburg, Germany.
⁴ Sophie's Hope Foundation, Hopkinton, MA.
⁵ C. D. Nina la Guerrera, www.ninalaguerrera.org.
⁶ Global Center for Glycogen Storage Disease, West Hartford, CT.
⁷ Belgian Patient Association for Metabolic Diseases (BOKS), Beveren-Waas, Belgium.
⁸ Dutch Patient Association for Metabolic Diseases (VKS), Zwolle, The Netherlands.
⁹ UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands; Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
¹⁰ School of Medicine, Department of Pediatrics, University of Connecticut, Farmington, CT.
¹¹ Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands; Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
¹² Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: t.g.j.derks@umcg.nl.

PMID: 41014099
DOI: 10.1016/j.gim.2025.101589

Free article

Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set

Ruben J Overduin et al. Genet Med. 2025.

Free article

. 2025 Sep 23;27(12):101589.

doi: 10.1016/j.gim.2025.101589. Online ahead of print.

Authors

Collaborators

GSD Value Consortium:
Alberto Ferriani, Alessandro Rossi, Allan Lund, Amani Husaineid, Ana Drole Torkar, Andrea Haijer-Schreuder, Anne Hugon, Anne Mei-Kwun Kwok, Blaire Stone-Schneider, Boelo G F D Boelens, Camilla Carøe, Carmen Rosano, Carolina Fischinger Moura De Souza, Damian Cohen, David Rodriguez-Buritica, Deberah Goldman, Denise Boss-Lagerwaard, Enrique Lande Contreras, Fatih Ezgu, Fred van Eenennaam, Frédéric Vanneste, Frederiec K Withaar, Gayle W Temkin, Hanka Dekker, Heather Saavedra, Helen Mundy, Ida Schwartz, Iris Ferrecchia, Jamas LaFreniere, Jana Šaligová, John Mitchell, Julieta Bonvin Sallago, Katie Ouellette, Klaudia Meszes, Louise Engelbrecht, Luisa Diogo, Magali Reyes-Apodaca, Malaya Mount, Marcia Makdisse, Marcus Landgren, María Clemente León, Marie-Cécile Nassogne, Marieke Fokkert-Wilts, Marjorie Dixon, Melanie M van der Klauw, Merve Koç Yekedüz, Mirela Adriana Borhan, Monika Williams, Nerea López Maldonado, Patricia Janeiro, Patricia Pilar Perez Mohand, Priya S Kishnani, Rani Singh, Rebecca Halligan, Rebecca Koch, Rebecca Riba-Wolman, René Santer, Ruben J Overduin, Sarah C Grünert, Steven Buijs, Sunita Bijarnia-Mahay, Terry G J Derks, Thomas Casswall, Ute Stachelhaus-Theimer, Yunkoo Kang

Affiliations

¹ Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands.
² UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands; Department of Medical Psychology, University Center of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
³ Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Faculty of Medicine, Freiburg, Germany.
⁴ Sophie's Hope Foundation, Hopkinton, MA.
⁵ C. D. Nina la Guerrera, www.ninalaguerrera.org.
⁶ Global Center for Glycogen Storage Disease, West Hartford, CT.
⁷ Belgian Patient Association for Metabolic Diseases (BOKS), Beveren-Waas, Belgium.
⁸ Dutch Patient Association for Metabolic Diseases (VKS), Zwolle, The Netherlands.
⁹ UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands; Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
¹⁰ School of Medicine, Department of Pediatrics, University of Connecticut, Farmington, CT.
¹¹ Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands; Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
¹² Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: t.g.j.derks@umcg.nl.

PMID: 41014099
DOI: 10.1016/j.gim.2025.101589

Abstract

Purpose: Health care and clinical trials for persons with liver glycogen storage diseases (GSD) can be improved by a consensus-based standard set of person-centered health outcomes, including patient-reported outcome measures.

Methods: Persons with GSD (n = 6), caregivers (n = 17), multidisciplinary health care providers (n = 38), industry representatives (n = 7), and value-based health care experts (n=4) from 25 countries participated in an international, iterative nominal consensus process to identify the most important health outcomes and case-mix variables for liver GSD.

Results: The following 14 health outcomes are recommended for measurement: (1) cure; (2) life-threatening GSD-related events; (3) glycemic control; (4) metabolic control; (5) acute metabolic decompensations; (6) GSD-related complications; (7) time to treatment of intercurrent complications; (8) time to return to functional status; (9) access and availability of GSD expertise care; (10) access and availability of GSD-related diagnostic, monitoring, and treatment products; (11) quality of life; (12) independence; (13) treatment adherence; and (14) food intake problems. A list of 29 case-mix variables was composed of demographic, diagnostic, clinical, and treatment factors. Recommendations were formulated on frequency of measurements.

Conclusion: An international consensus-based standard set of person-centered health outcomes for liver GSD was developed to apply in health care, registries, and clinical trials.

Keywords: Data collection; Metabolic diseases; Outcome assessment; Patient-centered care; Value-based health care.

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Conflict of interest statement

Conflict of Interest C.C.: There are confidentiality agreements with third parties. For private-public relationships with Vitaflo, Danone S.A., and Ultragenyx Pharmaceutical Inc, contracts are via Center for Inherited Metabolic Diseases or Departments of Pediatrics Nutrition, Copenhagen University Hospital, Rigshospitalet, Denmark. All payments are to Center for Inherited Metabolic Diseases or Departments of Pediatrics Nutrition, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark T.G.J.D.: There are confidentiality agreements with third parties. In the past 36 months, there have been consultation agreements (with Danone S.A., Ultragenyx Pharmaceutical Inc, Moderna Inc, and Beam Therapeutics Inc), contracts for financial research support for investigator-initiated research (NCT04311307) and sponsor-initiated research (NCT03517085, NCT03970278, NCT05139316, and NCT05196165), honoraria for lectures or presentations (by MEDTalks, Prelum, and Danone S.A.), and participations in a Data Safety Monitoring Board (NCT05095727) and Advisory Boards (Ultragenyx Pharmaceutical Inc, Moderna Inc, and Beam Therapeutics Inc). For all private-public relationships, all contracts are via UMCG Contract Research Desk, and all payments are to UMCG. C.F.M.D.S.: Consultant agreement with Ultragenyx Pharmaceutical Inc and Moderna Inc. PI from the study ClinicalTrials.gov ID NCT05139316 Sponsor Ultragenyx Pharmaceutical Inc. The contract is directly with the Hospital de Clinicas de Porto Alegre. MFW: There are confidentiality agreements with third parties. For all private-public relationships, all contracts are via UMCG Contract Research Desk, and all payments are to UMCG. S.C.G.: Reports no conflicts of interest relevant to this work. She has received honoraria for educational lectures from Vitaflo GmbH and Ultragenyx Pharmaceutical Inc, as well as for the creation of patient information material for Danone Deutschland GmBH and received support for attending metabolic expert meetings from Nutricia Metabolics GmbH. She participated in an advisory board for Ultragenyx Pharmaceutical, Inc. AHS: There are confidentiality agreements with third parties. For all private-public relationships, all contracts are via UMCG Contract Research Desk, and all payments are to UMCG. P.S.K.: In the past 36 months, consulting fees were received from Moderna Inc and Ultragenyx Pharmaceutical Inc. M.L.: There are confidentiality agreements with third parties. In the past 36 months, there have been consultation agreements with 4 video meetings in a Global Gene Therapy Advisory Council and 1 consultation as a moderator for an online gene therapy Town Hall meeting for Ultragenyx Pharmaceutical Inc. A.L.: In the past 36 months, there have been consultation agreements and contracts for financial research support for sponsor-initiated research with Ultragenyx Pharmaceutical Inc and Moderna Inc. M.M.: There are confidentiality agreements with third parties. In the past 36 months, there have been consultation agreements with Danone S.A., Vitaflo, Moderna Inc and Beam Therapeutics Inc. R.J.O.: There are confidentiality agreements with third parties. There is a consultation agreement (with Ultragenyx Pharmaceutical Inc). For all private-public relationships, all contracts are via UMCG Contract Research Desk, and all payments are to UMCG. AR: There are confidentiality agreements with third parties. In the past 36 months there have been consultation agreements or honoraria for lectures or presentations with Nestlé, Danone S.A., and Ultragenyx Pharmaceutical Inc. D.R.B.: There are confidentiality agreements with third parties. In the past 36 months, there have been consultation agreements (Beam Therapeutics Inc) and contracts for financial research support and sponsor-initiated research between Ultragenyx Pharmaceutical Inc and Moderna Inc and The University of Texas (UTHealth) R.R.W.: There are confidentiality agreements with third parties. In the past 36 months, there have been consultation agreements (with Beam Therapeutics Inc) and contracts for financial research support for sponsor-initiated research (Ultragenyx Pharmaceutical Inc). H.S.: There are confidentiality agreements with third parties. There are consultancy agreements with Moderna Inc, Beam Therapeutics Inc, Vitaflo, Sanofi (unrelated to GSD), and Danone S.A. Speaker honoraria were received from Ultragenyx Pharmaceutical Inc and Vitaflo, USA. D.A.W.: In the past 36 months, there have been consultation agreements with Ultragenyx Pharmaceutical Inc, Beam Therapeutics Inc, Prime Medicine Inc, Moderna Inc, Covert Therapeutics, CTI, Abata Therapeutics, Alltrna, Siren Biotechnology, Danone S.A., Cometa Therapeutics, Golden Heart Flower, Ltd., ZipBio, Chaim Medicine, Vitaflo/Nestle, WIRB-Copernicus Group, and SOLA Biotherapeutics. All other authors declare no conflicts of interests.

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Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set

Collaborators

Affiliations

Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

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