Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

Westhoff, M.; Litterst, P

doi:10.1007/8904_2011_100

Cited by 3 publications

(5 citation statements)

References 24 publications

(42 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The efficacy of ERT was explored on key outcomes (social behavior, skin lesions, central nervous system development, bone abnormalities, visual acuity) and specific situations (serious respiratory impairment, hematological disease, and physical abnormalities) that had not been considered in previous clinical studies. Additionally, case reports also proposed new therapeutic strategies to deal with immune reactions against ERT [ 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 49 ]. In accordance with previous results, we observed that most of these novelties were not assessed in subsequent clinical studies after five years from the publication of the case report [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…(3) Effects in pebbling skin lesions [26,27] Case report (Srinivas SM et al, 2017) [51] No clinical study after 8 years (4) Effects in hyperactivity, aggressive behavior, language functioning, and social interaction [28] No clinical study after 7 years No clinical study after 7 years [30,31] Case report Scarpa et al, 2017 Bonanni et al, 2014 [57,58] No clinical study after 8 years 7ERT effects in vision [32,33] Case report (Yamanishi R et al, 2019) [59] No clinical study after 5 years (8) ERT effect in autoimmune anemia, thrombocytopenia, or thrombocytopenic purpura [34,35] Case report (Alcántara-Ortigoza et al, 2016) [60] No clinical study after 8 years (9) Botulinum Toxin for the treatment of equinus deformity with an ERT [36] No new citations No clinical study after 8 years (10) ERT effects in involuntary movements (chorea) [37] No new citations No prospective study after 12 years (11) Early ERT effects in bone abnormalities [38] Cohort study (Manara R [39][40][41][42][43][44][45][46][47][48][49]. ** This study analyzed two novelties proposed by previous case reports.…”

Section: Secondary Outcomesmentioning

confidence: 99%

“…The case reports excluded were: Lampe et al 2014, Biviana et al 2014, Christiano et al 2013, Sato et al 2013, Tajima et al 2013, Hoffmann B. et al 2011, Tylki-Szymanska et al 2012, Pérez-Calvo et al 2011, Tchan M.C. et al 2011, Westhoff M. et al 2011, and Galán Gómez E. et al 2008 [ 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 ]. ** This study analyzed two novelties proposed by previous case reports.…”

Section: Figurementioning

confidence: 99%

“…Novelties proposed in case reports of ERT in MPS-II patients and in clinical studies citing these case reports. References [ 16 , 17 , 18 , 19 , 20 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , …”

mentioning

confidence: 99%

See 3 more Smart Citations

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Secondary Outcomesmentioning

confidence: 99%

Section: Figurementioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

show abstract

“…24 Similar findings have been reported in several separate clinical reports. 25,26 Forced vital capacity…”

Section: Six-minute Walk Testmentioning

confidence: 99%

Profile of idursulfase for the treatment of Hunter syndrome

Sestito¹,

Ceravolo²,

Grisolia³

et al. 2015

RRED

View full text Add to dashboard Cite

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). Enzyme replacement therapy (ERT) with recombinant human IDS, available since 2005, is currently the most appropriate treatment for this progressive, multisystemic, chronic, and life-threatening disease. Efficacy and safety of therapy with idursulfase have been assessed in several clinical trials, and confirmed in many clinical reports. Long-term follow-up of patients receiving ERT has demonstrated the importance of an early onset of treatment with idursulfase, before irreversible pathological changes occur. Intravenously administered idursulfase is not able to cross the blood-brain barrier, so neurological signs and symptoms cannot benefit from ERT, still remaining a major challenge in the treatment of MPS II.

show abstract

Pädiatrische Heimbeatmung – practical approach

Rath-Wacenovsky

2015

Wien Med Wochenschr

View full text Add to dashboard Cite

Out-of-hospital ventilation represents only a marginal area of paediatric therapeutic concepts. In Austria, the proportion of children to be supplied with invasive and non-invasive ventilation increases significantly, together with the challenges of caring for their long-term demands. Neuromuscular diseases accounted for almost the sole indication group. Premature and newborn infants with persistent respiratory failures are an increasing group, needing more extensive care due to additional comorbidities. Children with congenital disorder have often been tracheotomised in order to secure their airway, and non-invasive ventilation as a bridge- or long-term therapy gains in importance more and more. Usually, infants with primary or secondary CNS disorders suffer from respiratory complications and eventually from chronic respiratory insufficiencies during adolescence or young adulthood. Here, invasive or non-invasive ventilation can contribute both to a significant stabilisation of health status and also quality of life. Spirit of research, experience, appropriate support structures, and appropriate networking constitute the most relevant quality- and success criteria for home care.

show abstract

Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

Cited by 3 publications

References 24 publications

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)

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)

Profile of idursulfase for the treatment of Hunter syndrome

Pädiatrische Heimbeatmung – practical approach

Contact Info

Product

Resources

About