Evidence map›Paper›PMID 27132782›Full record

ArticleMolecular genetics and metabolism2016

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

Elsa Shapiro, Jessica Bernstein, Heather R Adams, Ann J Barbier, Teresa Buracchio, Peter Como, Kathleen A Delaney, Florian Eichler, Jonathan C Goldsmith, Melissa Hogan and 7 more

2 registry-linked trialsAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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.

NCT00237315 unknown statusnot on this map

Longitudinal Study of Urea Cycle Disorders

TypeobservationalSponsorAndrea GropmanRan2006 to 2026Enrolled1,500ConditionsBrain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
NCT02935283 unknown statusnot on this map

Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders

TypeobservationalSponsorChildren's National Research InstituteRan2016 to 2025Enrolled56ConditionsUrea Cycle DisordersArmsMRI, Behavioral
3 · Its place in the literature

Who cites it

20 citing papers in PubMed.

  1. Trial
  2. Article
  3. Article
  4. Observational
  5. Brain proton MR spectroscopy measurements in CLN3 disease.Molecular genetics and metabolism · 2023
    Article
  6. Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.American journal of medical genetics. Part A · 2023
    Article
  7. Review
  8. Use of the Vineland-3, a measure of adaptive functioning, in CLN3.American journal of medical genetics. Part A · 2022
    Observational
  9. Observational
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. 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

17 authors.

Elsa ShapiroDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, USA; Shapiro & Delaney, LLC, Mendota Heights, MN, USA. Electronic address: shapi004@umn.edu.
Jessica BernsteinCenter for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, USA. Electronic address: jessica.bernstein@fda.hhs.gov.
Heather R AdamsDepartment of Neurology, Division of Child Neurology, University of Rochester Medical Center, Rochester, NY, USA. Electronic address: Heather_Adams@URMC.Rochester.edu.
Ann J BarbierShire, Lexington, MA, USA. Electronic address: annjbarbier@aol.com.
Teresa BuracchioCenter for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, USA. Electronic address: teresa.buracchio@fda.hhs.gov.
Peter ComoCenter for Devices and Radiological Health, Food and Drug Administration, Silver Spring, MD, USA. Electronic address: peter.como@fda.hhs.gov.
Kathleen A DelaneyShapiro & Delaney, LLC, Mendota Heights, MN, USA; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: kate.delaney@shapiroanddelaney.com.
Florian EichlerDepartment of Neurology, Center for Rare Neurological Diseases, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: feichler@partners.org.
Jonathan C GoldsmithCenter for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, USA. Electronic address: jonathan.goldsmith@fda.hhs.gov.
Melissa HoganSaving Case & Friends, Inc., Thompson's Station, TN, USA. Electronic address: melissa@savingcase.com.
Sarrit KovacsCenter for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, USA. Electronic address: sarrit.kovacs@fda.hhs.gov.
Jonathan W MinkDepartment of Neurology, Division of Child Neurology, University of Rochester Medical Center, Rochester, NY, USA. Electronic address: Jonathan_Mink@URMC.Rochester.edu.
Joanne OdenkirchenNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address: jo21x@nih.gov.
Melissa A ParisiEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: parisima@mail.nih.gov.
Alison SkrinarClinical Outcomes Research and Evaluation, Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: ASkrinar@ultragenyx.com.
Susan E WaisbrenMetabolism Program, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: Susan.Waisbren@childrens.harvard.edu.
Andrew E MulbergCenter for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, USA. Electronic address: andrew.mulberg@fda.hhs.gov.

Funding

Training (Career Development) ComponentU54HD061221 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI GROPMAN, ANDREA LYNNE · 2009 to 2023
$20.8M
NICHD NIH HHS U54 HD061221
6 · The paper itself

Abstract

Well-defined and reliable clinical outcome assessments are essential for determining whether a drug provides clinically meaningful treatment benefit for patients. In 2015, FDA convened a workshop, "Assessing Neurocognitive Outcomes in Inborn Errors of Metabolism." Topics covered included special challenges of clinical studies of inborn errors of metabolism (IEMs) and other rare diseases; complexities of identifying treatment effects in the context of the dynamic processes of child development and disease progression; and the importance of natural history studies. Clinicians, parents/caregivers, and participants from industry, academia, and government discussed factors to consider when developing measures to assess treatment outcomes, as well as tools and methods that may contribute to standardizing measures. Many issues examined are relevant to the broader field of rare diseases in addition to specifics of IEMs.

Indexed as

Outcome Assessment, Health CareCaregiversChildChild DevelopmentClinical Trials as TopicDisease ProgressionHumansMental Status and Dementia TestsMetabolism, Inborn ErrorsNational Institutes of Health (U.S.)ParentsRare DiseasesRemote Sensing TechnologyUnited StatesUnited States Food and Drug AdministrationClinical outcome assessmentDrug developmentInborn errorsNatural history studiesNeurocognitiveRare diseases

Identifiers

PMID27132782
PMCPMC4895194

What OpenQuestion holds

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Registered trials

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.