Evidence map›Paper›PMID 32429923›Full record

Trial reportBMC neurology2020

Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy.

Doris G Leung, Alex E Bocchieri, Shivani Ahlawat, Michael A Jacobs, Vishwa S Parekh, Vladimir Braverman, Katherine Summerton, Jennifer Mansour, Genila Bibat, Carl Morris and 2 more

Registry-linked trialOpen access · goldAbstract readClinical Trial, Phase II
PubMed Full text at PMC Publisher
In one paragraph

Trial report in BMC neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02841267 (A Phase 1b/2, Open-Label, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Ambulatory Participants With LGMD2I), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
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.

NCT02841267 phase1 / phase2completednot on this map

A Phase 1b/2, Open-Label, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Ambulatory Participants With LGMD2I

TypeinterventionalSponsorKathryn WagnerRan2016 to 2019Enrolled19ConditionsLGMD2IArmsPF 06252616
3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
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

12 authors at 5 institutions in 1 country.

Doris G LeungCenter for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA. leungd@kennedykrieger.org.ORCID http://orcid.org/0000-0002-2558-7798
Alex E BocchieriDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Shivani AhlawatDepartment of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Michael A JacobsDepartment of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Vishwa S ParekhDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Vladimir BravermanDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Katherine SummertonCenter for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA.
Jennifer MansourTulane University School of Medicine, New Orleans, LA, USA.
Genila BibatCenter for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA.
Carl MorrisSolid Biosciences, Cambridge, MA, USA.
Shannon MarraffinoPfizer, Inc., Cambridge, MA, USA.
Kathryn R WagnerCenter for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA.
Johns Hopkins University · USKennedy Krieger Institute · USPfizer (United States) · USSolidus Biosciences (United States) · USTulane University · US

Funding

Magnetic resonance imaging and spectroscopy biomarkers for facioscapulohumeral muscular dystrophyK23NS091379 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI LEUNG, DORIS G · 2015 to 2019
$885k
Cure LGMD2I NALGMD2i Research Fund NANINDS NIH HHS K23 NS091379Pfizer, Inc. NA
6 · The paper itself

Abstract

backgroundPathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopathies, clinical research in the limb-girdle muscular dystrophies has been limited by the lack of normative biomarker data to gauge disease progression.

methodsParticipants in a phase 2 clinical trial were evaluated over a 4-month, untreated lead-in period to evaluate repeatability and to obtain normative data for timed function tests, strength tests, pulmonary function, and body composition using DEXA and whole-body MRI. Novel deep learning algorithms were used to analyze MRI scans and quantify muscle, fat, and intramuscular fat infiltration in the thighs. T-tests and signed rank tests were used to assess changes in these outcome measures.

resultsNineteen participants were observed during the lead-in period for this trial. No significant changes were noted in the strength, pulmonary function, or body composition outcome measures over the 4-month observation period. One timed function measure, the 4-stair climb, showed a statistically significant difference over the observation period. Quantitative estimates of muscle, fat, and intramuscular fat infiltration from whole-body MRI corresponded significantly with DEXA estimates of body composition, strength, and timed function measures.

conclusionsWe describe normative data and repeatability performance for multiple physical function measures in an adult FKRP muscular dystrophy population. Our analysis indicates that deep learning algorithms can be used to quantify healthy and dystrophic muscle seen on whole-body imaging.

trial registrationThis study was retrospectively registered in clinicaltrials.gov (NCT02841267) on July 22, 2016 and data supporting this study has been submitted to this registry.

Indexed as

AdultAgedDystroglycansFemaleGlycosylationHumansMagnetic Resonance ImagingMaleMiddle AgedMuscle, SkeletalMuscular Dystrophies, Limb-GirdleOutcome Assessment, Health CarePentosyltransferasesYoung AdultDystroglycansFKRP protein, humanPentosyltransferasesBiomarkersConvolutional neural networkDeep learningFKRPLimb-girdle muscular dystrophyTissue signaturesWhole-body MRI

Identifiers

PMID32429923
PMCPMC7236878
OpenAlexW3027985586

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.