Evidence map›Paper›PMID 42176404›Full record

ArticleMolecular genetics and metabolism2026

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, Kaleb Kelley, Ylenia Vaia, Francesco Gavazzi, Johanna L Schmidt, Amy Pizzino, Russel D'Aiello, Eloise Uebergang and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Anjana SevagamoorthyDivision of Neurology, Children's Hospital of Philadelphia, PA, USA. Electronic address: sevagamooa@chop.edu.
Sarah WoidillDivision of Neurology, Children's Hospital of Philadelphia, PA, USA. Electronic address: woidills@chop.edu.
Gabrielle SudilovskyDivision of Neurology, Children's Hospital of Philadelphia, PA, USA. Electronic address: Gabrielle.Sudilovsky@uchicagomedicine.org.
Kaleb KelleyDivision of Neurology, Children's Hospital of Philadelphia, PA, USA.
Ylenia VaiaNeurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: ylenia.vaia@unimi.it.
Francesco GavazziDivision of Neurology, Children's Hospital of Philadelphia, PA, USA; Department of Pediatrics, University of Pennsylvania, Philadelphia, Philadelphia, PA, USA. Electronic address: gavazzif@chop.edu.
Johanna L SchmidtDivision of Neurology, Children's Hospital of Philadelphia, PA, USA. Electronic address: schmidtj1@chop.edu.
Amy PizzinoDivision of Neurology, Children's Hospital of Philadelphia, PA, USA. Electronic address: pizzinoa@chop.edu.
Russel D'AielloDivision of Neurology, Children's Hospital of Philadelphia, PA, USA. Electronic address: daielloiir@chop.edu.
Eloise UebergangMurdoch Children's Research Institute, Melbourne, VIC, Australia. Electronic address: eloise.uebergang@mcri.edu.au.
Fabio BruschiUnit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: fabio.bruschi@unimi.it.
Amytice MirchiDepartments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Quebec, Canada. Electronic address: mirchia1@chop.edu.
Chihiro Abe-HatanoMedical Genome Center, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. Electronic address: chihiroabe@ncnp.go.jp.
Jacapo SartorelliUnit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: jacopo.sartorelli@opbg.net.
Francesco NicitaUnit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: francesco.nicita@opbg.net.
Chloe CunninghamRoyal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Department of Paediatrics, Melbourne, VIC, Australia. Electronic address: chloe.cunningham@vcgs.org.au.
Davide TondutiUnit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: davide.tonduti@asst-fbf-sacco.it.
Enrico BertiniUnit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: enricosilvio.bertini@opbg.net.
Geneviève BernardDepartments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada. Electronic address: genevieve.bernard@mcgill.ca.
Ken InoueNational Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. Electronic address: kinoue@ncnp.go.jp.
Nicole I WolfDepartment of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, the Netherlands; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands. Electronic address: n.wolf@amsterdamumc.nl.
Laura A AdangNeurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adangl@chop.edu.
Justine ShultsThe Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: shultsj@chop.edu.
Adeline VanderverNeurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: vandervera@chop.edu.

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

introductionPelizaeus-Merzbacher Disease (PMD) is a PLP1-related disorder for which genotype alone is insufficient to reliably determine PMD disease progression. We aim to characterize the developmental outcomes of PMD-affected individuals and evaluate their association with early presentation features.

methodsMolecularly confirmed PMD subjects were included. Data on baseline characteristics, developmental, and disease outcomes were abstracted from medical records and, when feasible, supplemented by caregiver interviews. Data were summarized using descriptive statistics.

resultsThe study included 111 subjects with milestone acquisition ranging from 9.9% to 68.5% across gross motor, 41.1% to 85.6% across fine motor, and 30.0% to 66.7% across expressive communication skills. Genotype and milestone were not significantly associated. Presentation with stridor (N = 20) was associated with profound impairments (overall non-attainment ranging from 10.0% to 100%). In the absence of stridor, head control by 12 months was associated with developmental outcomes: severe outcomes (overall non-attainment ranging from 0% to 96.0%) when head control was not acquired by 12 months (N = 50), and moderate outcomes (overall non-attainment ranging from 0% to 78.0%) when head control was attained (N = 41). Median time to PMD-related complications was noted to be earlier in the profoundly impaired subtype, compared to the severe and moderate subtypes.

conclusionsPMD impairs skill acquisition, with gross motor milestones impacted more than expressive communication. Stridor and lack of head control by 12 months were associated with poor developmental outcomes and disease progression. These insights will support better characterization of disease course for newly diagnosed families, as well as future trial development.

Indexed as

Pelizaeus-Merzbacher DiseaseAdolescentChildChild, PreschoolDisease ProgressionFemaleGenotypeHumansInfantMaleMyelin Proteolipid ProteinMyelin Proteolipid ProteinClinical trial readinessCohort stratificationDevelopmental outcomesDisease progressionPelizaeus-Merzbacher DiseasePrognosis determination

Identifiers

PMID42176404
PMCPMC13371939

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.