Evidence map›Paper›PMID 37833521›Full record

ArticleThe patient2024

Determining Commonalities in the Experiences of Patients with Rare Diseases: A Qualitative Analysis of US Food and Drug Administration Patient Engagement Sessions.

Catherine Mease, Lewis J Fermaglich, Karen Jackler, Shawn Shermer, Kathleen L Miller

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The patient, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.5field-weighted citation impact, top 10% 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.

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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Applied behavioral and decision sciences in support of US FDA's drug regulatory mission.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  2. Article
  3. Article
  4. Review
  5. Fatigue in acromegaly patients: a scoping review.Frontiers in endocrinology · 2025
    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 at 2 institutions in 1 country.

Catherine MeaseOffice of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA. catherine.mease@fda.hhs.gov.ORCID 0009-0005-0156-198X
Lewis J FermaglichOffice of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.ORCID 0000-0001-7151-1615
Karen JacklerOffice of the Center Director, Center for Biologics Evaluation and Research, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Shawn ShermerPatient Affairs Staff, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Kathleen L MillerOffice of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.ORCID 0000-0002-3939-3660
United States Food and Drug Administration · USCenter for Biologics Evaluation and Research · US

Funding

Intramural FDA HHS FD999999Oak Ridge Institute for Science and Education FDA Rare DiseaseOak Ridge Institute for Science and Education Orphan Product Fellowship
6 · The paper itself

Abstract

backgroundRare diseases are estimated to affect more than one in ten Americans. However, most patients with a rare disease face significant emotional, physical, and social challenges. To better understand the burden of disease and unmet needs, the US Food and Drug Administration (FDA) conducts and supports multiple patient engagement platforms. We analyzed summaries from these discussions to identify commonalities among patients with disparate rare diseases, the results of which could inform priorities for cross-disease policies and medical product development.

methodsWe conducted a qualitative analysis of patient engagement session summaries to investigate shared experiences across rare diseases. Cross-disease similarities were identified within four dimensions: product development/regulatory, clinical/physical, social/psychological, and economic/financial. Summaries from 29 rare diseases were included in our analyses.

resultsWithin the product development/regulatory dimension, we observed that patients and caregivers across rare diseases shared the desire for development of medical products that cured their disease or improved their overall quality of life. In the clinical/physical dimension, we found that patients had numerous common symptoms, including pain and fatigue. In the social/psychological dimension, we observed significant negative impact on mental health. Within the economic/financial dimension, patients and caregivers shared that disease burden caused significant financial hardships.

conclusionWe found remarkable similarities among patients with rare diseases across all four dimensions. Our results indicate that, even among rare diseases with diverse etiologies, patients share numerous commonalties due to their diseases: a lack of effective treatment options, certain physical symptoms, mental health challenges, and financial concerns.

Indexed as

Quality of LifeRare DiseasesCost of IllnessHumansPatient ParticipationUnited StatesUnited States Food and Drug Administration

Identifiers

PMID37833521
PMCPMC11841686
OpenAlexW4387609784

What OpenQuestion holds

Textmetadata
LicenceTDM
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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.