Evidence map›Paper›PMID 39271956›Full record

Observational studyAmerican journal of medical genetics. Part A2025

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.

Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D Porter

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

Observational study in American journal of medical genetics. Part A, 2025. 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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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.

NCT00001721 completednot on this map

Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome

TypeobservationalSponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Ran1998Enrolled130ConditionsSmith-Lemli-Opitz SyndromeArmsCholesterol Suspension, CRH, Cholesterol
NCT05047354 recruitingnot on this map

Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

TypeobservationalSponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Ran2021 to 2031Enrolled250ConditionsSmith Lemli Opitz Syndrome, CHILD Syndrome, Lathosterolosis, Desmosterolosis
3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. 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

5 authors.

Aishwarya SelvaramanDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Samar RahhalDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Simona BianconiDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Tristan FurnaryDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Forbes D PorterDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0001-9397-0046

Funding

Clinical Investigations of Inborn Errors of MetabolismZIAHD008989 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2020 to 2025
$5.1M
Intramural NIH HHS ZIA HD008989
6 · The paper itself

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme 7-dehydrocholesterol reductase. This results in elevated levels of cholesterol precursors and typically low cholesterol levels, leading to a range of physical and cognitive challenges. Mortality rates in infants with severe SLOS are high, due to congenital malformations. Premature death has been described in individuals with SLOS, particularly in severely affected individuals. Further research is needed to understand postnatal mortality risk factors for individuals with SLOS. Understanding these factors could improve monitoring and prevention efforts. To investigate this, we obtained death certificates from the National Death Index (NDI) database on a cohort of individuals with SLOS who were enrolled in natural history studies at the National Institutes of Health Clinical Center (NCT00001721 and NCT05047354). Analysis and comparison of this deceased cohort showed that although premature death occurs in SLOS, many individuals with SLOS survive into adulthood. We also observed the risk of postnatal mortality increasing with higher severity scores and lower initial cholesterol levels. Trial Registration: NCT00001721 and NCT05047354.

Indexed as

Oxidoreductases Acting on CH-CH Group DonorsSmith-Lemli-Opitz SyndromeAdolescentAdultChildChild, PreschoolCholesterolFemaleHumansInfantInfant, NewbornMaleRisk Factors7-dehydrocholesterol reductaseCholesterolOxidoreductases Acting on CH-CH Group DonorsDHCR7National Death Indexpostnatal mortalitySmith–Lemli–Opitz syndrome (SLOS)

Identifiers

PMID39271956
PMCPMC11698646

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.