Evidence map›Paper›PMID 38808315›Full record

ReviewTherapeutic advances in rare disease

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Sarah Nelson Potter, Elizabeth Reynolds, Katherine C Okoniewski, Anne Edwards, Julia Gable, Christine Hill, Vesselina Bakalov, Stephanie Zentz, Carolyne Whiting, Emily Cheves and 5 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Therapeutic advances in rare disease. 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. 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

15 authors.

Sarah Nelson PotterRTI International, 3040 E. Cornwallis Road, Research Triangle Park, NC 27709-2194, USA.ORCID https://orcid.org/0000-0002-8640-8992
Elizabeth ReynoldsRTI International, Research Triangle Park, NC, USA.
Katherine C OkoniewskiRTI International, Research Triangle Park, NC, USA.
Anne EdwardsRTI International, Research Triangle Park, NC, USA.
Julia GableRTI International, Research Triangle Park, NC, USA.
Christine HillRTI International, Research Triangle Park, NC, USA.
Vesselina BakalovRTI International, Research Triangle Park, NC, USA.
Stephanie ZentzRTI International, Research Triangle Park, NC, USA.
Carolyne WhitingRTI International, Research Triangle Park, NC, USA.
Emily ChevesRTI International, Research Triangle Park, NC, USA.
Katie GarbariniAngelman Syndrome Foundation, Aurora, IL, USA.
Elizabeth JalazoDepartment of Pediatrics, The University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Carrie HowellDup15q Alliance, Matthews, NC, USA.
Amanda MooreAngelman Syndrome Foundation, Aurora, IL, USA.
Anne WheelerRTI International, Research Triangle Park, NC, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g. intellectual disability, epilepsy) and often require lifelong care. Disease-modifying therapies for both conditions are emerging, resulting in a significant need for a better understanding of the natural history of both AS and dup15q. Patient advocacy groups for both conditions recognized a need for a data repository that would link data on individuals from multiple sources to expand research, increase understanding of natural history, and accelerate the development of treatments, resulting in the Linking Angelman and Dup15q Data for Expanded Research (LADDER) Database. This paper describes the development and functionality of the LADDER Database - including challenges, lessons learned, and preliminary feasibility - and how it can be used as a model for other rare conditions.

Indexed as

Angelman syndromedata repositorydup15q syndromenatural historyresearchtherapeutics

Identifiers

PMID38808315
PMCPMC11131393

What OpenQuestion holds

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LicenceCC BY-NC
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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.