Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases

Sampayo-Cordero, Miguel; Miguel-Huguet, Bernat; Pardo-Mateos, Almudena; Moltó-Abad, Marc; Muñoz-Delgado, Cecilia; Pérez‐López, Jordi

doi:10.1016/j.ymgme.2018.01.002

Cited by 23 publications

(40 citation statements)

References 29 publications

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“…Due to the rarity of aceruloplasminemia, randomized controlled study designs are not feasible to explore clinical outcomes of iron chelation therapy. The value of aggregated case reports has recently been highlighted as an alternative means of systematically deriving evidence from the literature in rare diseases [11,12]. However, the rich source of information embedded in published case reports and case series has not yet been quantitatively investigated in such manner for aceruloplasminemia.…”

Section: Introductionmentioning

confidence: 99%

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Vroegindeweij

Wilson

Langendonk

2020

Orphanet J Rare Dis

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Background: Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent. Aggregated case reports were analyzed to help delineate the disease-modifying potential of treatment. Methods: Data on clinical manifestations, treatment and neurological outcomes of treatment were collected from three neurologically symptomatic Dutch patients, who received deferiprone with phlebotomy as a new therapeutic approach, and combined with other published cases. Neurological outcomes of treatment were compared between patients starting treatment when neurologically symptomatic and patients without neurological manifestations. Results: Therapeutic approaches for aceruloplasminemia have been described in 48 patients worldwide, including our three patients. Initiation of treatment in a presymptomatic stage of the disease delayed the estimated onset of neurological manifestations by 10 years (median age 61 years, SE 5.0 vs. median age 51 years, SE 0.6, p = 0.001). Although in 11/20 neurologically symptomatic patients neurological manifestations remained stable or improved during treatment, these patients were treated significantly shorter than patients who deteriorated neurologically (median 6 months vs. median 43 months, p = 0.016). Combined iron chelation therapy with deferiprone and phlebotomy for up to 34 months could be safely performed in our patients without symptomatic anemia (2/3), but did not prevent further neurological deterioration. Conclusions: Early initiation of iron chelation therapy seems to postpone the onset of neurological manifestations in aceruloplasminemia. Publication bias and significant differences in duration of treatment should be considered when interpreting reported treatment outcomes in neurologically symptomatic patients. Based on theoretical grounds and the observed long-term safety and tolerability in our study, we recommend iron chelation therapy with deferiprone in combination with phlebotomy for aceruloplasminemia patients without symptomatic anemia.

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Section: Introductionmentioning

confidence: 99%

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Vroegindeweij

Wilson

Langendonk

2020

Orphanet J Rare Dis

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“…However, case reports are systematically excluded in systematic reviews in rare-disease research, especially when other designs with a higher level of evidence are included [12,15,[62][63][64][65]. Therefore, important innovations, which could contribute to a better management of the patient treated with orphan drugs, are systematically excluded from systematic reviews of rare diseases [2,13].…”

Section: Discussionmentioning

confidence: 99%

“…Importantly, the new studies assessing these proposals were usually case reports [31,50,51,57,59,60]. Therefore, the evidence and innovations provided by case reports will take a long time to be incorporated into clinical studies on rare diseases [13].…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, findings provided by case reports might not be generalizable and could not be useful to establish a cause-effect relationship, with a consequent high risk of over-interpretation [9][10][11]. Accordingly, it is uncommon to include case reports in systematic reviews and meta-analyses [12,13].…”

Section: Introductionmentioning

confidence: 99%

“…Thus, the purpose of a systematic review is to provide a summary of the state of research knowledge on an intervention, diagnostic test, prognostic factor, or other health or healthcare topics [12]. It has been suggested that novelties about available interventions are published in case reports five or more years earlier than in clinical studies [13]. Accordingly, a detailed review of a health topic should not exclude published clinical reports, especially in the field of rare diseases, where the individualization of treatments or management strategies has a great relevance on clinical practice [14,15].…”

Section: Introductionmentioning

confidence: 99%

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The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2020

IJERPH

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Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

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Female Leadership: A Case of Neuropsychological Research in Colombia

Cárdenas-Poveda

Ibáñez

Rizo-Arévalo

2019

Sustainable Leadership for Entrepreneurs and Academics

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Cited by 23 publications

References 29 publications

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Female Leadership: A Case of Neuropsychological Research in Colombia

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