Evidence map›Paper›PMID 41798680›Full record

ReviewNeuro-oncology advances

Disease burden and unmet needs in adults with neurofibromatosis type 1 and plexiform neurofibromas: A systematic literature review.

Maciej Mrugala, Ayo Adeyemi, Juliet Johns, Xiaoqin Yang, Pierre Wolkenstein

Abstract readReview
In one paragraph

Review in Neuro-oncology advances. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

5 authors.

Maciej MrugalaDepartment of Neurology, Medicine and Neurosurgery, Mayo Clinic Cancer Center, Phoenix, Arizona (M.M.).
Ayo AdeyemiHealth Economics and Outcomes Research, Alexion, AstraZeneca Rare Disease, Boston, Massachusetts (A.A.).ORCID https://orcid.org/0000-0002-6987-027X
Juliet JohnsCostello Medical, London (J.J.).
Xiaoqin YangMerck & Co., Inc, Rahway, New Jersey (X.Y.).
Pierre WolkensteinDepartment of Dermatology (CERENEF), Henri-Mondor Hospital, APHP, UPEC, Créteil, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic condition. Up to 50% of individuals with NF1 develop plexiform neurofibromas (PN) that can cause pain and significant morbidity, impairing quality of life. As of December 2025, only a limited number of countries have an approved medical treatment for adults with NF1-PN. A systematic literature review (PROSPERO CRD42023463980) was conducted to better understand disease burden and unmet need in this population. Methods: An evidence prioritization strategy identified studies reporting on NF1-PN populations with ≥50% adults from database searches conducted between 1988 and July 20, 2023. Studies published in the last 15 years were extracted. Results: Of 3242 identified sources, 57 publications (53 unique studies) were included. The proportion of adults with NF1 who had PN ranged from 11.8% to 84.9% ( Conclusions: Adults with NF1-PN experience high disease burden. Data gaps exist for epidemiology, transition of care, caregiver burden, healthcare cost, and resource use.

Indexed as

adultsburden of diseaseneurofibromatosis type 1plexiform neurofibromasunmet needs

Identifiers

PMID41798680
PMCPMC12962803

What Socratic 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 Socratic graph.