Evidence map›Paper›PMID 28219443›Full record

ArticleOrphanet journal of rare diseases2017

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.

Michael L Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01136304 (Retrospective and Prospective Validation of a Disease Severity Score System), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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.

NCT01136304 completednot on this map

Retrospective and Prospective Validation of a Disease Severity Score System (DS3) for Adults With Type 1 Gaucher Disease (GD1)

TypeobservationalSponsorUniversity Research Foundation for Lysosomal Storage Diseases, Inc.Ran2010 to 2013Enrolled173ConditionsGaucher DiseaseArmsImiglucerase
3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. 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

7 authors.

Michael L GanzEvidera, 500 Totten Pond Road, 5th Floor, Waltham, MA, 02451, USA. michael.ganz@evidera.com.
Sean SternEvidera, 7101 Wisconsin Avenue, Suite 600, Bethesda, MD, 20814, USA.
Alex WardEvidera, 500 Totten Pond Road, 5th Floor, Waltham, MA, 02451, USA.
Luba NalysnykSanofi Genzyme, 500 Kendall Street, Cambridge, MA, 02142, USA.
Martin SelzerChatham Decision Sciences, Sarasota, FL, 34235, USA.
Alaa HamedSanofi Genzyme, 500 Kendall Street, Cambridge, MA, 02142, USA.
Neal WeinrebUniversity Research Foundation for Lysosomal Storage Diseases Inc., 7367 Wexford Terrace, Boca Raton, FL, 33433, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences for those states (utilities) based on the DS3 to predict long-term outcomes of patients starting treatment. We defined nine mutually exclusive (alive) health states based on three DS3 categories: mild (0 ≤ DS3 ≤ 3.5) without symptoms of bone disease; mild with bone pain, mild with severe skeletal complications (SSC) defined as lytic lesions, avascular necrosis, or fracture; moderate (3.5 < DS3 ≤ 6.5) without SSC; moderate with SSC; marked (6.5 < DS3 ≤ 9.5) without SSC; marked with SSC; severe (9.5 < DS3 ≤ 19) without SSC; and severe with SSC. Health-state transition probabilities and utilities were estimated from a longitudinal sample of patients with GD1 who started enzyme replacement therapy (the DS3 Score Study). Age dependent GD1-specific mortality was derived from published data. We used a Markov state-transition model to illustrate how to estimate time spent in each health state.

resultsThe average predicted utilities for each health state ranged from 0.76 for mild disease with no clinical symptoms of bone disease to 0.52 with severe disease with SSC. Transition probabilities depended on disease severity (DS3 score) at treatment initiation and whether patients had undergone a total splenectomy or had an intact spleen/partial splenectomy prior to starting treatment. Patients who started treatment with intact or residual spleens spent more time in better health states than those who started treatment with total splenectomy.

conclusionsThis new framework, which is based on the DS3, can be used to project the long-term outcomes of GD1 patients starting treatment. The framework could also be used to compare the long-term outcomes of different GD1 treatment options.

trial registrationNCT01136304 . Registered: May 31, 2010 (retrospectively registered).

Indexed as

1-DeoxynojirimycinEnzyme InhibitorsEnzyme Replacement TherapyGaucher DiseaseGlucosylceramidaseHumans1-DeoxynojirimycinalgluceraseEnzyme InhibitorsGlucosylceramidaseimiglucerasemiglustatVelaglucerase alfa, humanEconomic evaluationGaucher diseaseHealth-related quality-of-lifeSimulation

Identifiers

PMID28219443
PMCPMC5319149

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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.