Evidence map›Paper›PMID 35301072›Full record

ArticleDiabetes research and clinical practice2022

Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

Jaclyn Tamaroff, Anna DeDio, Kristin Wade, McKenzie Wells, Courtney Park, Karla Leavens, Christian Rummey, Andrea Kelly, David R Lynch, Shana E McCormack

Open access · greenAbstract readMulticenter Study
In one paragraph

Article in Diabetes research and clinical practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

17 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Review
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  7. Article
  8. Observational
  9. Pulling back the mitochondria's iron curtain.npj metabolic health and disease · 2025
    Review
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  11. Article
  12. Article
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  15. Article
  16. Article
  17. Friedreich ataxia: clinical features and new developments.Neurodegenerative disease management · 2022
    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

10 authors at 2 institutions in 2 countries.

Jaclyn TamaroffDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: jaclyn.tamaroff@vumc.org.
Anna DeDioDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kristin WadeDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
McKenzie WellsDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Courtney ParkDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Karla LeavensDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Christian RummeyClinical Data Science GmbH, Basel, Switzerland.
Andrea KellyDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
David R LynchDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Shana E McCormackDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Children's Hospital of Philadelphia · USSwiss Data Science Center · CH

Funding

Translational Research Training in Pediatric Diabetes & EndocrinologyT32DK063688 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI LORRAINE E LEVITT KATZ, ANDREA Bridget KELLY · 2002 to 2026
$5.4M
NAD+ precursor supplementation with exercise training to improve aerobic capacity in Friedreich's AtaxiaR01HL149722 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI MCCORMACK, SHANA ERIN · 2020 to 2024
$4.0M
Career Development Program in Pediatric Diabetes Research (K12) at CHOPK12DK094723 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI WILLI, STEVEN M · 2011 to 2020
$3.6M
Dissecting the mechanisms behind biphasic beta cell disease caused by mutations in HNF1alphaK08DK131253 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI LEAVENS, KARLA FITZGERALD · 2021 to 2024
$636k
Glycemia and Cardiac Involvement in Friedreich's AtaxiaF32DK128970 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI TAMAROFF, JACLYN · 2021 to 2022
$172k
NHLBI NIH HHS R01 HL149722NIDDK NIH HHS F32 DK128970NIDDK NIH HHS K08 DK131253NIDDK NIH HHS K12 DK094723NIDDK NIH HHS T32 DK063688
6 · The paper itself

Abstract

aimsFriedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the prevalence of, risk factors for, and management practices of FRDA-related DM.

methodsFACOMS, a prospective, multi-site natural history study, includes 1,104 individuals. Extracted data included the presence of DM and other co-morbidities, genetic diagnosis, and markers of disease severity. We performed detailed medical record review and a survey for the subset of individuals with FRDA-related DM followed at one FACOMS site, Children's Hospital of Philadelphia.

resultsFRDA-related DM was reported by 8.7% of individuals. Age, severe disease, and FRDA cardiac complications were positively associated with DM risk. FRDA-related DM was generally well-controlled, as reflected by HbA1c, though diabetic ketoacidosis did occur. Insulin is the mainstay of treatment (64-74% overall); in adults, metformin use was common and newer glucose-lowering agents were used rarely.

conclusionsClinical factors identify individuals at increased risk for FRDA-related DM. Future studies should test strategies for FRDA-related DM screening and management, in particular the potential role for novel glucose-lowering therapies in preventing or delaying FRDA-related cardiac disease.

Indexed as

Diabetes MellitusFriedreich AtaxiaAdultChildDiabetic KetoacidosisGlucoseHumansIron-Binding ProteinsProspective StudiesRisk FactorsTrinucleotide Repeat ExpansionGlucoseIron-Binding ProteinsFriedreich’s AtaxiaMitochondrial diabetes

Identifiers

PMID35301072
PMCPMC9075677
OpenAlexW4220658979

What Socratic 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 Socratic graph.