Evidence map›Paper›PMID 40355957›Full record

ArticleOrphanet journal of rare diseases2025

A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States.

Tina Duong, Tmirah Haselkorn, Beckley Miller, Julie Coats, Ivar Jensen, Erin Ward, Marie Wood, Robert J Graham, Laurent Servais

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

9 authors.

Tina DuongStanford University, 213 Quarry Road, Palo Alto, CA, 94041, USA. trduong@stanford.edu.ORCID http://orcid.org/0000-0003-3177-4722
Tmirah HaselkornAstellas Gene Therapies, San Francisco, CA, USA.
Beckley MillerPRECISIONheor, Boston, MA, USA.
Julie CoatsAstellas Gene Therapies, San Francisco, CA, USA.
Ivar JensenPRECISIONheor, Boston, MA, USA.
Erin WardMTM-CNM Family Connection, Inc, Methuen, MA, USA.
Marie WoodMTM-CNM Family Connection, Inc, Methuen, MA, USA.
Robert J GrahamDivision of Critical Care Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Laurent ServaisMDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundX-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, which often includes the need for invasive ventilator support, gastrostomy tube feeding, and wheelchair use in approximately 80% of patients. The direct and indirect financial impact of extensive supportive care, as reported by caregivers of individuals with XLMTM, and the health-related quality of life (HRQoL) of caregivers has not been previously described. Here, we use a survey co-designed by patient advocates to provide objective information on the physical and financial challenges of caregiving for individuals with XLMTM.

methodsA real-world web-based survey was conducted in the United States between November 19, 2019, and January 23, 2020. The survey was developed in association with patient advocacy leaders from the XLMTM community, who were also caregivers of individuals with XLMTM. The survey included the EuroQol 5-dimension 5-level HRQoL instrument and visual analog scale, and a cost (direct and indirect medical costs) and healthcare resource questionnaire. The survey was shared among the XLMTM community by patient advocacy organizations. Caregivers who completed the survey and met the eligibility criteria were included. Descriptive statistics were conducted using Microsoft Excel.

resultsTwenty-two caregiver respondents agreed to participate. All respondents completed the cost and health resource survey. Productivity loss varied between participants over the prior 12 months. Durable medical equipment expenses comprised most of the direct medical out-of-pocket costs. Non-medical expenditures (e.g. home and vehicle modifications) were higher than direct medical out-of-pocket costs. Twelve of the 22 respondents completed the HRQoL survey. The HRQoL domains most impacted were usual activities, anxiety/depression, and pain/discomfort.

conclusionsFindings from this real-world survey of caregivers for individuals with XLMTM describe the caregiver experience, as well as the multifaceted impact of the disease on caregiver productivity loss, out-of-pocket expenses, and HRQoL. XLMTM comes with financial constraints and substantial impacts on caregivers' physical and mental health. Understanding these gaps is crucial to support the caregivers who provide care for this medically fragile population.

Indexed as

CaregiversMyopathies, Structural, CongenitalAdultFemaleHumansMaleMiddle AgedQuality of LifeSurveys and QuestionnairesUnited StatesCaregiverCongenital myopathyEconomic impactMyotubular myopathyQuality of lifeRare diseaseReal-world dataXLMTM

Identifiers

PMID40355957
PMCPMC12067675

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.