Evidence map›Paper›PMID 40763653›Full record

ReviewMolecular genetics and metabolism

Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.

Elizabeth G Ames, Nicholas A Borja, Russell J Butterfield, Dustin R Donald, Jeanine R Jarnes, Julie M Porter, Katie L Sapp, Ching-Sui Ueng, Tao Wang, Jennifer L Cohen

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism. 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

10 authors.

Elizabeth G AmesDepartment of Pediatrics, University of Michigan Health System, Ann Arbor, MI, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States. Electronic address: amese@med.umich.edu.
Nicholas A BorjaJohn T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Russell J ButterfieldCenter for Gene Therapy, Department of Pediatrics, University of Utah, Salt Lake City, UT, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Dustin R DonaldVanderbilt University Medical Center, Nashville, TN, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Jeanine R JarnesDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Julie M PorterDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Katie L SappIU School of Medicine, IU Health Physicians, Indianapolis, IN, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Ching-Sui UengPharmacy Services, Children's Medical Center Dallas, Dallas, TX, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Tao WangDepartment of Genetic Medicine and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.
Jennifer L CohenDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, United States; Clinical Application of Newly Approved Treatments Working Group, National Organization for Rare Disorders (NORD®) Rare Disease Centers of Excellence, Quincy, MA, United States.

Funding

Developing strategies to identify candidate individuals for early genetic therapiesK23HD113824 · NICHD · DUKE UNIVERSITY · PI Jennifer L Cohen · 2024 to 2026
$460k
NICHD NIH HHS K23 HD113824
6 · The paper itself

Abstract

The landscape of therapeutic options for rare diseases is rapidly expanding, including a range of novel treatments such as antisense oligonucleotides, enzyme replacement therapies, targeted small molecules, mRNA, and gene replacement therapies. The integration of these high-cost, advanced therapeutics into clinical practice presents significant challenges. This focused review aims to outline the practical aspects of implementing non-gene therapy therapeutics that have been recently approved for rare diseases in a clinical setting, focusing on the multidisciplinary efforts required for successful integration, the coordination with various healthcare specialists, and the management of institutional and insurance-related barriers. Effective implementation necessitates strong institutional support and comprehensive infrastructure, including specialized clinics and dedicated pharmacy services. Key strategies involve developing new treatment protocols, ensuring robust payor support, and coordinating with pharmaceutical companies. The successful deployment of these new to market therapeutics hinges on a well-coordinated, institution-wide approach that addresses both clinical and logistical challenges. Emphasizing multi-disciplinary collaboration and patient-centric care, institutions can navigate the complexities of recently approved rare disease treatments, improving outcomes and access for this vulnerable patient population.

Indexed as

Rare DiseasesGenetic TherapyHumansClinical implementationHealthcare coordinationInsurance challengesMulti-disciplinary approachNovel therapeuticsRare diseases

Identifiers

PMID40763653
PMCPMC13334482

What OpenQuestion holds

Textmetadata
LicenceTDM
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.