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  1. Article ; Online: Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death.

    Wahlgren, Lisa / Kroksmark, Anna-Karin / Lindblad, Anders / Tulinius, Mar / Sofou, Kalliopi

    Journal of neurology

    2024  

    Abstract: Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder with progressive decline of pulmonary function increasing the risk of early mortality. The aim of this study was to explore the respiratory-related comorbidities, and the effect ... ...

    Abstract Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder with progressive decline of pulmonary function increasing the risk of early mortality. The aim of this study was to explore the respiratory-related comorbidities, and the effect of these comorbidities and treatments on life expectancy and causes of death.
    Methods: All male patients living in Sweden with DMD, born and deceased 1970-2019, were included. Data regarding causes of death were collected from the Cause of Death Registry and cross-checked with the medical records along with diagnostics and relevant clinical features.
    Results: Hundred and twenty nine patients were included with a median lifespan of 24.3 years. Acute respiratory failure accounted for 63.3% of respiratory-related causes of death. 70.1% suffered at least one pneumonia, with first episode at a median age of 17.8 years. Hypoventilation was found in 73.0% with onset at 18.1 years. 60.5% had their first pneumonia before established hypoventilation. Age at onset of hypoventilation showed a strong correlation with age at first pneumonia. First pneumonia and scoliosis non-treated with scoliosis surgery increased the risk of dying of respiratory-related causes. In 10% of the patients, first pneumonia resulted in acute tracheostomy or early death. Patients treated with assisted ventilation had higher life expectancy compared to untreated patients.
    Conclusions: Our results highlight the importance of identifying subclinical hypoventilation in a timely manner and the importance of an active treatment regime upon clinical signs of pneumonia.
    Language English
    Publishing date 2024-04-17
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-024-12372-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Low bone mineral density and reduced bone-specific alkaline phosphatase in 5q spinal muscular atrophy type 2 and type 3: A 2-year prospective study of bone health.

    Kroksmark, Anna-Karin / Alberg, Lars / Tulinius, Mar / Magnusson, Per / Söderpalm, Ann-Charlott

    Acta paediatrica (Oslo, Norway : 1992)

    2023  Volume 112, Issue 12, Page(s) 2589–2600

    Abstract: Aim: Individuals with spinal muscular atrophy (SMA) are at risk of developing skeletal problems. This study investigated bone mineral density (BMD), bone turnover markers and motor function in children and adolescents with SMA type 2 and type 3 over a ... ...

    Abstract Aim: Individuals with spinal muscular atrophy (SMA) are at risk of developing skeletal problems. This study investigated bone mineral density (BMD), bone turnover markers and motor function in children and adolescents with SMA type 2 and type 3 over a two-year period. The effect of nusinersen was studied in a subgroup.
    Methods: Single-centre study, including 20 patients, 2-18 years, of whom ten patients received nusinersen treatment. BMD was measured by dual-energy X-ray absorptiometry.
    Results: All patients had low BMD levels at baseline; mean Z-score -2.3 for total body less head (TBLH) and -2.9 for total hip left (THL). Significant correlations were found both at baseline and for the follow-up change for motor function and Z-scores (TBLH and THL). For the whole study group, reduced bone formation and unchanged bone resorption, assessed by bone-specific alkaline phosphatase (BALP) (p = 0.0006, ES = -0.83) and C-terminal cross-linking telopeptide of type I collagen (CTX), respectively, were found over the study period. However, BALP decreased less in the nusinersen treatment group, which suggests a positive development on bone mass in these patients.
    Conclusion: Bone health evaluation is important in follow-up programmes for SMA patients. Further investigations are warranted for individuals on survival motor neuron-targeted treatments.
    MeSH term(s) Child ; Adolescent ; Humans ; Bone Density ; Alkaline Phosphatase ; Prospective Studies ; Spinal Muscular Atrophies of Childhood/drug therapy ; Bone Remodeling ; Bone Diseases, Metabolic/etiology ; Collagen Type I
    Chemical Substances Alkaline Phosphatase (EC 3.1.3.1) ; Collagen Type I
    Language English
    Publishing date 2023-09-15
    Publishing country Norway
    Document type Journal Article
    ZDB-ID 203487-6
    ISSN 1651-2227 ; 0365-1436 ; 0803-5253
    ISSN (online) 1651-2227
    ISSN 0365-1436 ; 0803-5253
    DOI 10.1111/apa.16974
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  3. Article ; Online: One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure.

    Wahlgren, Lisa / Kroksmark, Anna-Karin / Tulinius, Mar / Sofou, Kalliopi

    European journal of epidemiology

    2021  Volume 37, Issue 2, Page(s) 147–156

    Abstract: Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder with increasing life expectancy from late teens to over 30 years of age. The aim of this nationwide study was to explore the prevalence, life expectancy and leading causes of death in ... ...

    Abstract Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder with increasing life expectancy from late teens to over 30 years of age. The aim of this nationwide study was to explore the prevalence, life expectancy and leading causes of death in patients with DMD in Sweden. Patients with DMD were identified through the National Quality Registry for Neuromuscular Diseases in Sweden, the Swedish Registry of Respiratory Failure, pathology laboratories, neurology and respiratory clinics, and the national network for neuromuscular diseases. Age and cause of death were retrieved from the Cause of Death Registry and cross-checked with medical records. 373 DMD patients born 1970-2019 were identified, of whom 129 patients deceased during the study period. Point prevalence of adult patients with DMD on December 31st 2019 was 3.2 per 100,000 adult males. Birth prevalence was 19.2 per 100,000 male births. Median survival was 29.9 years, the leading cause of death being cardiopulmonary in 79.9% of patients. Non-cardiopulmonary causes of death (20.1% of patients) mainly pertained to injury-related pulmonary embolism (1.3 per 1000 person-years), gastrointestinal complications (1.0 per 1000 person-years), stroke (0.6 per 1000 person-years) and unnatural deaths (1.6 per 1000 person-years). Death from non-cardiopulmonary causes occurred at younger ages (mean 21.0 years, SD 8.2; p = 0.004). Age at loss of independent ambulation did not have significant impact on overall survival (p = 0.26). We found that non-cardiopulmonary causes contribute to higher mortality among younger patients with DMD. We present novel epidemiological data on the increasing population of adult patients with DMD.
    MeSH term(s) Adolescent ; Adult ; Causality ; Humans ; Male ; Muscular Dystrophy, Duchenne/complications ; Muscular Dystrophy, Duchenne/epidemiology ; Prevalence ; Respiratory Insufficiency/complications ; Respiratory Insufficiency/etiology ; Sweden/epidemiology ; Young Adult
    Language English
    Publishing date 2021-11-21
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 632614-6
    ISSN 1573-7284 ; 0393-2990
    ISSN (online) 1573-7284
    ISSN 0393-2990
    DOI 10.1007/s10654-021-00819-4
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  4. Article ; Online: Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy.

    Gillenstrand, Jonas / Ekström, Anne-Berit / Kroksmark, Anna-Karin / Tulinius, Mar / Broberg, Malin

    Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence

    2022  Volume 29, Issue 6, Page(s) 959–972

    Abstract: The aim of this study was to describe behavioral strengths and difficulties in relation to intellectual function and age in boys with DMD. In a cross-sectional design, 70 boys with DMD were tested at 5, 8, 11, and 14 years of age (mean age 10y 5 m). ... ...

    Abstract The aim of this study was to describe behavioral strengths and difficulties in relation to intellectual function and age in boys with DMD. In a cross-sectional design, 70 boys with DMD were tested at 5, 8, 11, and 14 years of age (mean age 10y 5 m). Parental ratings of behavioral strengths and difficulties were studied in relation to age, intellectual function, motor function, and family socioeconomic status (SES). Results show a significant relation between behavioral strengths and difficulties and age with parents rating increasingly more difficulties (slightly higher, higher and very high) from 5 years (11.1%) to 9 years (30.8%) and 11 years (78.9%) of age and then fewer difficulties at 14 years (50%) of age. Working Memory Index (WMI) explained significant variance in SDQ-Total-Score (17.5%) and SDQ-Impact-Score (11.2%). WMI together with upper motor function explained 19.5% variance in SDQ-Hyperactivity and 19.7% in SDQ-Peer-Problems. Age and SES explained an 18.9% variance in SDQ-Emotional-Problems. Age is an important factor when analyzing behavioral strengths and difficulties for boys with DMD. The development of boys with DMD needs to be understood in the context of expected developmental trajectory as well as in the decline of psychical functioning. Our study supports that age, cognition, motor function, and family SES all contribute to how behavioral strengths and difficulties evolves in boys with DMD.
    MeSH term(s) Male ; Humans ; Child ; Child, Preschool ; Muscular Dystrophy, Duchenne ; Sweden ; Cross-Sectional Studies ; Child Behavior Disorders ; Cognition
    Language English
    Publishing date 2022-11-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1262599-1
    ISSN 1744-4136 ; 0929-7049
    ISSN (online) 1744-4136
    ISSN 0929-7049
    DOI 10.1080/09297049.2022.2144814
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  5. Article ; Online: Long term treatment with ataluren-the Swedish experience.

    Michael, Eva / Sofou, Kalliopi / Wahlgren, Lisa / Kroksmark, Anna-Karin / Tulinius, Már

    BMC musculoskeletal disorders

    2021  Volume 22, Issue 1, Page(s) 837

    Abstract: Introduction: Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking. Here we present ...

    Abstract Introduction: Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking. Here we present the results from a long-term follow-up study of all DMD patients treated with ataluren and followed at the Queen Silvia Children's Hospital in Gothenburg, Sweden, with focus on the evolution of patients' upper motor and respiratory function over time.
    Methods: This is a retrospective longitudinal case-series study of all male DMD patients treated with ataluren and followed at the Queen Silvia Children's Hospital in Gothenburg, Sweden, since 2008.
    Results: Our eleven patients had a median exposure to ataluren of 2312 days which is almost a fourfold higher than previous studies. Loss of ambulation occurred at a median age of 13.2 years. Patients who lost ambulation prior to 13.2 years of age had received ataluren for 5 years, whereas patients who continued to be ambulatory after 13.2 years of age had received ataluren for 6.5 years until loss of ambulation or last follow-up if still ambulatory. Four of six non ambulatory patients had Performance of the Upper Limb scores above the expected mean values over time. All but one patient maintained a pulmonary decline above the expected over time. All ambulatory patients increased in their predicted forced vital capacity (FVC) with 2.8 to 8.2% annually. Following loss of ambulation, 5 of 6 patients declined in predicted FVC (%), with annual rate of decline varying from 1.8 to 21.1%. The treatment was safe and well tolerated throughout the follow-up period.
    Conclusions: This is the first study to present long-term cumulative treatment outcomes over a median period of 6.3 years on ataluren treatment. Our results indicate a delay in loss of ambulation, as well as a slower decline in FVC and upper limb motor function even after loss of ambulation. We suggest that treatment with ataluren should be initiated as soon as the diagnosis is confirmed, closely monitored and, in case of sustainable benefit, continued even after loss of ambulation.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Follow-Up Studies ; Humans ; Male ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/epidemiology ; Muscular Dystrophy, Duchenne/therapy ; Oxadiazoles ; Retrospective Studies ; Sweden/epidemiology
    Chemical Substances Oxadiazoles ; ataluren (K16AME9I3V)
    Language English
    Publishing date 2021-09-30
    Publishing country England
    Document type Journal Article
    ISSN 1471-2474
    ISSN (online) 1471-2474
    DOI 10.1186/s12891-021-04700-z
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  6. Article ; Online: A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.

    Landfeldt, Erik / Sejersen, Thomas / Tulinius, Már

    Acta paediatrica (Oslo, Norway : 1992)

    2018  Volume 108, Issue 2, Page(s) 224–230

    Abstract: Aim: Ataluren has been approved for treating nonsense mutation Duchenne muscular dystrophy (nmDMD), and there are currently discussions concerning drug access and applications beyond the development programme. This study provides an overview of nmDMD ... ...

    Abstract Aim: Ataluren has been approved for treating nonsense mutation Duchenne muscular dystrophy (nmDMD), and there are currently discussions concerning drug access and applications beyond the development programme. This study provides an overview of nmDMD and ataluren, stipulates clinical rules for treatment initiation and discontinuation and proposes a model for the implementation of orphan drugs in clinical practice in Sweden.
    Methods: This was a targeted mini-review of the literature from 1995 to 2018, which included cohort studies, guidelines, randomised clinical trials, clinical commentaries and reviews. The review covered the pathophysiology, epidemiology and burden of nmDMD and the clinical programme for ataluren.
    Results: Based on the current evidence, and our experiences, we recommend that patients with nmDMD should be given ataluren as soon as possible after diagnosis and this treatment should continue until they reach a forced vital capacity of <30%, and, or, a score of at least six on the Brooke upper extremity scale. We propose an implementation model that comprises a coordinating specialist physician and a national expert committee responsible for providing clinical intelligence to ensure appropriate use.
    Conclusion: Our clinical recommendations and proposed implementation model will inform the optimum medical management of nmDMD in Sweden and help ensure timely, equal access to ataluren and similar orphan drugs.
    MeSH term(s) Clinical Trials as Topic ; Codon, Nonsense/drug effects ; Cost-Benefit Analysis ; Humans ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/genetics ; Orphan Drug Production ; Oxadiazoles/economics ; Oxadiazoles/pharmacology ; Oxadiazoles/therapeutic use ; Sweden
    Chemical Substances Codon, Nonsense ; Oxadiazoles ; ataluren (K16AME9I3V)
    Language English
    Publishing date 2018-10-02
    Publishing country Norway
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 203487-6
    ISSN 1651-2227 ; 0365-1436 ; 0803-5253
    ISSN (online) 1651-2227
    ISSN 0365-1436 ; 0803-5253
    DOI 10.1111/apa.14568
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  7. Article ; Online: Quality of life of patients with spinal muscular atrophy: A systematic review.

    Landfeldt, Erik / Edström, Josefin / Sejersen, Thomas / Tulinius, Már / Lochmüller, Hanns / Kirschner, Janbernd

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2019  Volume 23, Issue 3, Page(s) 347–356

    Abstract: Objectives: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.: Methods: We ... ...

    Abstract Objectives: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.
    Methods: We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments.
    Results: Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and -0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL.
    Conclusions: Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
    MeSH term(s) Child ; Europe ; Humans ; Muscular Atrophy, Spinal ; Quality of Life
    Language English
    Publishing date 2019-03-21
    Publishing country England
    Document type Journal Article ; Systematic Review
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2019.03.004
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  8. Article ; Online: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

    Mercuri, Eugenio / Osorio, Andrés Nascimento / Muntoni, Francesco / Buccella, Filippo / Desguerre, Isabelle / Kirschner, Janbernd / Tulinius, Már / de Resende, Maria Bernadete Dutra / Morgenroth, Lauren P / Gordish-Dressman, Heather / Johnson, Shelley / Kristensen, Allan / Werner, Christian / Trifillis, Panayiota / Henricson, Erik K / McDonald, Craig M

    Journal of neurology

    2023  Volume 270, Issue 8, Page(s) 3896–3913

    Abstract: Objective: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in ... ...

    Abstract Objective: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in clinical practice. This updated interim report (data cut-off: January 31, 2022), describes STRIDE patient characteristics and ataluren safety data, as well as the effectiveness of ataluren plus standard of care (SoC) in STRIDE versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS).
    Methods: Patients are followed up from enrollment for at least 5 years or until study withdrawal. Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established predictors of disease progression.
    Results: As of January 31, 2022, 307 patients were enrolled from 14 countries. Mean (standard deviation [SD]) ages at first symptoms and at genetic diagnosis were 2.9 (1.7) years and 4.5 (3.7) years, respectively. Mean (SD) duration of ataluren exposure was 1671 (56.8) days. Ataluren had a favorable safety profile; most treatment-emergent adverse events were mild or moderate and unrelated to ataluren. Kaplan-Meier analyses demonstrated that ataluren plus SoC significantly delayed age at loss of ambulation by 4 years (p < 0.0001) and age at decline to %-predicted forced vital capacity of < 60% and < 50% by 1.8 years (p = 0.0021) and 2.3 years (p = 0.0207), respectively, compared with SoC alone.
    Conclusion: Long-term, real-world treatment with ataluren plus SoC delays several disease progression milestones in individuals with nmDMD. NCT02369731; registration date: February 24, 2015.
    MeSH term(s) Humans ; Codon, Nonsense ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/genetics ; Registries ; Disease Progression
    Chemical Substances Codon, Nonsense ; ataluren (K16AME9I3V)
    Language English
    Publishing date 2023-04-28
    Publishing country Germany
    Document type Multicenter Study ; Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-11687-1
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  9. Article ; Online: Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

    Mercuri, Eugenio / Osorio, Andrés Nascimento / Muntoni, Francesco / Buccella, Filippo / Desguerre, Isabelle / Kirschner, Janbernd / Tulinius, Már / de Resende, Maria Bernadete Dutra / Morgenroth, Lauren P / Gordish-Dressman, Heather / Johnson, Shelley / Kristensen, Allan / Werner, Christian / Trifillis, Panayiota / Henricson, Erik K / McDonald, Craig M

    Journal of neurology

    2023  Volume 270, Issue 9, Page(s) 4583

    Language English
    Publishing date 2023-06-27
    Publishing country Germany
    Document type Published Erratum
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-11864-2
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  10. Article ; Online: Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.

    Landfeldt, Erik / Zhang, Rongrong / Childs, Anne-Marie / Johannsen, Jessika / O'Rourke, Declan / Sejersen, Thomas / Strautmanis, Jurgis / Schara-Schmidt, Ulrike / Tulinius, Mar / Walter, Maggie C / Willis, Tracey / Buesch, Katharina

    Journal of medical economics

    2022  Volume 25, Issue 1, Page(s) 808–816

    Abstract: Objective: The objective of this study was to assess the face validity of a disease model evaluating the cost-effectiveness of ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD).: Methods: This was a Delphi panel ... ...

    Abstract Objective: The objective of this study was to assess the face validity of a disease model evaluating the cost-effectiveness of ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD).
    Methods: This was a Delphi panel study comprising of physicians with first-hand experience of ataluren for the treatment of nmDMD. Consensus was sought for previously unvalidated model data, including patient health status and quality of life measured using the Health Utility Index (HUI), mortality, informal caregiving, and the expected benefit of early ataluren treatment across four states: (1) ambulatory, (2) non-ambulatory, not yet requiring ventilation support, (3) non-ambulatory, night-time ventilation support, and (4) non-ambulatory, full-time ventilation support.
    Results: Nine experts from five countries participated in the Delphi panel. Consensus was obtained for all questions after three panel rounds (except for two HUI-questions concerning hand function [dexterity]). Consensus HUI-derived utilities for state (1) were 1.0000 for ataluren on top of best supportive care (BSC) and 0.7337 for BSC alone. Corresponding estimates for state (2) were 0.3179 and 0.2672, for state (3) 0.1643 and 0.0913, and for state (4) -0.0732 and -0.1163. Consensus mortality rates for states (1), (2), and (3) were 4%, 13%, and 33%, and life expectancy in state (4) was agreed to be 3 years. Panelists further agreed that two informal caregivers typically provide day-to-day care/support to patients with nmDMD, and that starting treatment with ataluren at 2 versus 5 years of age would be expected to delay loss of ambulation by an additional 2 years, and initiation of night-time and full-time ventilation support by an additional 3 years, respectively.
    Limitations: The main limitation concerns the size of the Delphi panel, govern primarily by the rarity of the disease.
    Conclusion: This study confirms the face validity of key clinical parameters and assumptions underlying the ataluren cost-effectiveness model.
    MeSH term(s) Caregivers ; Child, Preschool ; Codon, Nonsense ; Humans ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/genetics ; Quality of Life ; Reproducibility of Results
    Chemical Substances Codon, Nonsense
    Language English
    Publishing date 2022-06-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2270945-9
    ISSN 1941-837X ; 1369-6998
    ISSN (online) 1941-837X
    ISSN 1369-6998
    DOI 10.1080/13696998.2022.2085444
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