ReviewNeurology. Genetics2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.
Abstract readReview
In one paragraph
Review in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Clinical and genetic characteristics of pediatric patients with vanishing white matter disease: a retrospective single-center study.Acta neurologica Belgica · 2026Article
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.Neurology · 2025Review
- Vanishing White Matter Disease WithNeurology. Genetics · 2025Article
- White Matter Disease in a Toddler With New-Onset Seizures.Annals of the Child Neurology Society · 2025Article
- Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease.Frontiers in pediatrics · 2025Article
- "Case report": Whole-exome sequencing reveals compound heterozygous variants in theFrontiers in genetics · 2025Article
- [Early onset leukoencephalopathy with vanishing white matter].Revista de neurologia · 2024Article
- Article
- Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.Orphanet journal of rare diseases · 2024Article
- In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter.Annals of clinical and translational neurology · 2024Article
- Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.BMC neurology · 2023Article
- Non-lethal outcomes of engaging regulated cell death pathways in cancer.Nature cancer · 2023Review
- Rapidly progressive dementias - leukodystrophies as a potentially treatable cause.Nature reviews. Neurology · 2022Article
- Case Report: A NovelFrontiers in genetics · 2022Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Marjo S van der KnaapDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Joshua L BonkowskyDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.ORCID https://orcid.org/0000-0001-8775-147X
Adeline VanderverDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Raphael SchiffmannDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Ingeborg Krägeloh-MannDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Enrico BertiniDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.ORCID https://orcid.org/0000-0001-9276-4590
Genevieve BernardDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Seyed Ali FatemiDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Nicole I WolfDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.ORCID https://orcid.org/0000-0003-1721-0728
Elise Saunier-VivarDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Robert RaunerDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Hanka DekkerDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Pieter van BokhovenDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Peter van de VenDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.ORCID https://orcid.org/0000-0003-0837-0762
Prisca S LeferinkDepartment of Pediatric Neurology (M.S.v.d.K., N.I.W.), Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers; Amsterdam Neuroscience (M.S.v.d.K., N.I.W.); Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; Division of Pediatric Neurology (J.L.B.), Department of Pediatrics, University of Utah School of Medicine; Primary Children's Hospital (J.L.B.), Intermountain Healthcare, Salt Lake City, UT; Division of Neurology (A.V.), Children's Hospital of Philadelphia; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, PA; 4D Molecular Therapeutics (R.S.), Emeryville, CA; Department of Developmental and Child Neurology (I.K.-M.), Social Pediatrics, University Children's Hospital Tübingen, Germany; Department of Neuroscience (E.B.), Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Departments of Neurology and Neurosurgery (G.B.), Pediatrics and Human Genetics, McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Kennedy Krieger Institute (S.A.F.), Johns Hopkins University, Baltimore, MD; Research Department (E.S.-V.), European Leukodystrophies Association International and European Leukodystrophies Association France, Paris, France; United Leukodystrophy Foundation (R.R.), DeKalb, IL; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten (H.D.), Zwolle, the Netherlands; Industry Alliance Office (P.v.B., P.S.L.), Amsterdam Neuroscience, Amsterdam University Medical Centers; and Department of Epidemiology and Data Science (P.v.d.V.), Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, the Netherlands.
Funding
Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3MNINDS NIH HHS U54 NS115052
Abstract
Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes
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