Evidence map›Paper›PMID 41508113›Full record

ArticleOrphanet journal of rare diseases2026

Living with adrenoleukodystrophy: adult patient and caregiver perspectives.

Amena Smith Fine, Kathleen O' Sullivan-Fortin, Kelly Miettunen, Felicity Emerson, Reza Sadjadi, Ali Fatemi, Florian Eichler

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.Annals of clinical and translational neurology · 2026
    Review
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

7 authors.

Amena Smith FineMoser Center for Leukodystrophies, Department of Neurogenetics, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD, 21205, USA. FineA@kennedykrieger.org.ORCID http://orcid.org/0000-0002-6855-8807
Kathleen O' Sullivan-FortinALD Connect, 35 Village Road Suite 100 35533, Middleton, MA, 01949, USA.
Kelly MiettunenALD Connect, 35 Village Road Suite 100 35533, Middleton, MA, 01949, USA.
Felicity EmersonALD Connect, 35 Village Road Suite 100 35533, Middleton, MA, 01949, USA.
Reza SadjadiDepartment of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.
Ali FatemiMoser Center for Leukodystrophies, Department of Neurogenetics, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD, 21205, USA.
Florian EichlerDepartment of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
Autobahn Therapeutic N/AMinoryx Therapeutics N/ANINDS NIH HHS U54 NS115052SwanBio N/A
6 · The paper itself

Abstract

introductionAdrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions. We report on an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting involving patients and caregivers, Food and Drug Administration representatives, and physicians to hear the patient’s voice regarding living with adult manifestations of ALD.

methodsAdult patients with ALD and/or caregivers were invited to the EL-PFDD to discuss the impact of living with ALD and their desires for future treatment/management.

resultsOn July 22, 2022, the virtual EL-PFDD meeting took place with 254 individuals, including 153 adult patients with ALD and/or caregivers. Men and women with ALD suffer from many health conditions with top concerns being balance issues (81%), altered gait (67%), and spasticity (67%). Disease impact on daily activities was significant; 69% had issues with walking, playing sports (45%), and sleeping (41%). Overall, 88% of respondents feared their condition worsening, being unable to walk (61%), and developing cerebral ALD (39%). There are no disease-specific treatments for adults; patients used various medications and physical therapies for symptom management, with either ‘very little’ (39% respondents) or ‘somewhat’ (44% respondents) of a response; 10% received no relief with treatments. In the future, patients want to be involved in treatment development and clinical trials.

conclusionALD is a progressive disease that can be life-limiting. There is an urgent need to develop treatments that will either slow, halt, or cure adult manifestations of ALD, and men and women are eager to be involved in studies.

Indexed as

AdrenoleukodystrophyCaregiversAdultATP Binding Cassette Transporter, Subfamily D, Member 1FemaleHumansMaleMiddle AgedQuality of LifeATP Binding Cassette Transporter, Subfamily D, Member 1AdrenoleukodystrophyAdrenomyeloneuropathyDisease burdenPatient voiceQuality of lifeSymptoms

Identifiers

PMID41508113
PMCPMC12781523

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.