Evidence map›Paper›PMID 31300018›Full record

ArticleOrphanet journal of rare diseases2019

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.

Randall D Marshall, Abigail Collins, Maria L Escolar, H A Jinnah, Thomas Klopstock, Michael C Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L Swett and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.Movement disorders : official journal of the Movement Disorder Society · 2021
    Trial
  2. Article
  3. RareBrain communications · 2025
    Article
  4. Article
  5. Mimickers of hydroxychloroquine retinal toxicity.Clinical & experimental ophthalmology · 2024
    Review
  6. Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. 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

13 authors.

Randall D MarshallFormerly Retrophin, Inc., San Diego, CA, USA.
Abigail CollinsDepartments of Pediatrics and Neurology, University of Colorado, School of Medicine, Denver, CO, USA.
Maria L EscolarDepartment of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
H A JinnahDepartments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Thomas KlopstockDepartment of Neurology, Friedrich-Baur-Institute, University of Munich, Munich, Germany.
Michael C KruerBarrow Neurological Institute, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, AZ, USA.
Aleksandar VidenovicDepartment of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
Amy Robichaux-ViehoeverDepartment of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Colleen BurnsRetrophin, Inc., 3721 Valley Centre Drive, Suite 200, San Diego, CA, 92130, USA. colleen.burns@retrophin.com.
Laura L SwettEvidera, Inc, Bethesda, MD, USA.
Dennis A RevickiEvidera, Inc, Bethesda, MD, USA.
Randall H BenderEvidera, Inc, Bethesda, MD, USA.
William R LenderkingEvidera, Inc, Bethesda, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).

objectivesTo assess PKAN diagnostic pathway, history, and burden across the spectrum of PKAN severity from patient and/or caregiver perspectives.

methodsCaregivers of patients (n = 37) and patients themselves (n = 2) were interviewed in a validation study of the PKAN-Activities of Daily Living (ADL) scale. The current study used quartiles of the PKAN-ADL total score to divide patients by severity of impairment (Lowest, Second Lowest, Third Lowest, Highest). Diagnostic and treatment history, healthcare utilization, disease burden, and caregiver experience were compared between groups.

resultsThe analyses included data from 39 patients. Mean age at PKAN symptom onset (P = 0.0007), initial MRI (P = 0.0150), and genetic testing (P = 0.0016) generally decreased across the PKAN severity spectrum. The mean duration of illness did not differ among PKAN severity groups (range, 9.7-15.2 years; P = 0.3029). First MRI led to diagnosis in 56.4% of patients (range, 30.0-90.0%). A mean (SD) of 13.0 (13.1) medical and 55.2 (78.5) therapy visits (eg, physical, speech) occurred in the past year. More patients in the higher PKAN severity groups experienced multiple current functional losses and/or earlier onset of problems (P-values < 0.0500). Over half (56.8%) of caregivers experienced a change in employment because of caregiving. The percentage of patients requiring full-time caregiving increased across the PKAN severity spectrum (range, 11.1-100%; P = 0.0021).

conclusionsPKAN diagnosis was often delayed, most probably due to low awareness. Considerable burden of functional impairment and high healthcare utilization were found across the PKAN severity spectrum.

Indexed as

Activities of Daily LivingAdolescentBrainChildFemaleGenetic TestingHumansMagnetic Resonance ImagingMalePantothenate Kinase-Associated NeurodegenerationSocial ClassSurveys and QuestionnairesBurden of illnessCaregiverHealthcare utilizationPKANPKAN-ADL scale

Identifiers

PMID31300018
PMCPMC6625120

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.