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469 results on '"Wijburg, F."'

1. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Author

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G., and van Eeghen, A. M.

Published
2024
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3. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Author

CTM & Statistical consultation, Cancer, Neurologen, Brain, TN groep Pasterkamp, Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., van Eeghen, A. M., CTM & Statistical consultation, Cancer, Neurologen, Brain, TN groep Pasterkamp, Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., and van Eeghen, A. M.

Published
2024

4. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome:protocol for a series of randomized, placebo-controlled N-of-1 trials

Author

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., van Eeghen, A. M., Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., and van Eeghen, A. M.

Abstract

Background: Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-deficit hyperactivity disorder. Quality of life is often impaired due to irritability, aggression and self-injurious behavior, generally refractory to standard therapies. There are indications from previous (case) studies and patient reporting that cannabidiol (CBD) may be an effective treatment for severe behavioral manifestations in RGNDs. However, clear evidence is lacking and interventional research is challenging due to the rarity as well as the heterogeneity within and between disease groups and interindividual differences in treatment response. Our objective is to examine the effectiveness of CBD on severe behavioral manifestations in three RGNDs, including Tuberous Sclerosis Complex (TSC), mucopolysaccharidosis type III (MPS III), and Fragile X syndrome (FXS), using an innovative trial design. Methods: We aim to conduct placebo-controlled, double-blind, block-randomized, multiple crossover N-of-1 studies with oral CBD (twice daily) in 30 patients (aged ≥ 6 years) with confirmed TSC, MPS III or FXS and severe behavioral manifestations. The treatment is oral CBD up to a maximum of 25 mg/kg/day, twice daily. The primary outcome measure is the subscale irritability of the Aberrant Behavior Checklist. Secondary outcome measures include (personalized) patient-reported outcome measures with regard to behavioral and psychiatric outcomes, disease-specific outcome measures, parental stress, seizure frequency, and adverse effects of CBD. Questionnaires will be completed and study medication will be taken at the participants’ natural setting. Individual treatment effects will be determined based on summary statistics. A mixed model analysis will be applied for analyzing the effectiveness of the intervention per disorder and across dis

Published
2024

7. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Author

Crefcoeur, L., Ferdinandusse, S., Crabben, S.N. van der, Dekkers, E., Fuchs, Sabine A., Huidekoper, H., Janssen, M.C.H., Langendonk, J., Maase, R., Sain, M. de, Rubio, E., Spronsen, F.J. van, Vaz, F.M., Verschoof, R., Vries, M.C. de, Wijburg, F., Visser, G., Langeveld, M., Crefcoeur, L., Ferdinandusse, S., Crabben, S.N. van der, Dekkers, E., Fuchs, Sabine A., Huidekoper, H., Janssen, M.C.H., Langendonk, J., Maase, R., Sain, M. de, Rubio, E., Spronsen, F.J. van, Vaz, F.M., Verschoof, R., Vries, M.C. de, Wijburg, F., Visser, G., and Langeveld, M.

Abstract

Item does not contain fulltext, BACKGROUND: Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all. This study aims to answer this question for primary carnitine deficiency (PCD) taking into account that NBS for PCD identifies newborns with PCD and also until then undiagnosed mothers. METHODS: We investigated clinical, genetic (variants in SLC22A5 gene) and functional (carnitine transport activity in fibroblasts) characteristics of all referred individuals through NBS (newborns and mothers) and clinically diagnosed patients with PCD (not through NBS). Disease phenotype in newborns was predicted using data from PCD mothers and cases published in literature with identical SLC22A5 variants. RESULTS: PCD was confirmed in 19/131 referred newborns, 37/82 referred mothers and 5 clinically diagnosed patients. Severe symptoms were observed in all clinically diagnosed patients, 1 newborn and none of the mothers identified by NBS. PCD was classified as severe in all 5 clinically diagnosed patients, 3/19 newborns and 1/37 mothers; as benign in 8/19 newborns and 36/37 mothers and as unknown in 8/19 newborns. Carnitine transport activity completely separated severe phenotype from benign phenotype (median (range): 4.0% (3.5-5.0)] vs 26% (9.5-42.5), respectively). CONCLUSION: The majority of mothers and a significant proportion of newborns with PCD identified through NBS are likely to remain asymptomatic without early treatment. Conversely, a small proportion of newborns with predicted severe PCD could greatly benefit from early treatment. Genetic variants and carnitine transport activity can be used to distinguish between these groups.

Published
2023

11. Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

Author

van der Veen, S. J., Körver, S., Hirsch, A., Hollak, C. E.M., Wijburg, F. A., Brands, M. M., Tøndel, C., van Kuilenburg, A. B.P., Langeveld, M., van der Veen, S. J., Körver, S., Hirsch, A., Hollak, C. E.M., Wijburg, F. A., Brands, M. M., Tøndel, C., van Kuilenburg, A. B.P., and Langeveld, M.

Abstract

Background: Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage. However, with the clinically asymptomatic progression of renal, cardiac and cerebral disease manifestations spanning decades, optimal timing of ERT initiation remains unclear. Methods: In this cross-sectional retrospective study, seven male FD patients with a classical disease phenotype (cFD) who started treatment with agalsidase-beta in childhood were evaluated after 10 years of treatment (median age at evaluation 24 years, range 14–26). Cardiac imaging (echocardiography and MRI), electrophysiological and biochemical data of these patients were compared to those of untreated male cFD patients (n = 23, median age 22 years, range 13–27). Results: Albuminuria was less common and less severe in treated patients (albumin to creatinine ratio, ACR 0–8.8 mg/mmol, median 0.4) compared to untreated patients (ACR 0–248 mg/mmol, median 3.7, p = 0.02). The treated group had a lower left ventricular mass, measured using echocardiography (median 80 g/m2 versus 94 g/m2, p = 0.02) and MRI (median 53 g/m2 versus 68 g/m2, p = 0.02). Myocardial fibrosis was absent in all included patients. eGFR was normal in all treated patients whereas 7/23 (30%) of untreated patients had abnormal eGFR. Cerebral manifestations did not differ. Conclusions: Start of treatment with ERT before age 16, in male cFD patients is associated with reduced occurrence of renal and cardiac manifestations of FD, as assessed by intermediate endpoints. Confirmation that this approach delays or even prevents renal failure and cardiac events requires another decade of follow-up.

Published
2022

14. EPG5-related Vici syndrome defines a new group of multisystem disorders due to defects in membrane trafficking and autophagy

Author

BYRNE, S, U-KING-IM, J M, BODI, I, DIONISI-VICI, C, AL-GAZALI, L, AL-OWAIN, M, BROWN, N J, EL-GARHI, R, GERSHONI-BARUCH, R, FILLOUX, F, KAMATH, A, KOELKER, S, MANCHESTER, D, MANZUR, A, MANDEL, H, MEIN, R, MIYATA, R, PILZ, D, ROGERS, C C, RYAN, M, SAID, E, SCHARA, U, STEIN, A, SEWRY, C A, TRAVAN, L, WIJBURG, F A, YAU, S, FANTO, M, GAUTEL, M, and JUNGBLUTH, H

Published
2015

16. Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

Author

Ontwikkelingsstoornissen Med., Biostatistiek Onderzoek, Genetica Klinische Genetica, Müller, A. R., Zinkstok, J. R., Rommelse, N. N.J., van de Ven, P. M., Roes, K. C.B., Wijburg, F. A., de Rooij-Askes, E., Linders, C., Boot, E., van Eeghen, A. M., Ontwikkelingsstoornissen Med., Biostatistiek Onderzoek, Genetica Klinische Genetica, Müller, A. R., Zinkstok, J. R., Rommelse, N. N.J., van de Ven, P. M., Roes, K. C.B., Wijburg, F. A., de Rooij-Askes, E., Linders, C., Boot, E., and van Eeghen, A. M.

Published
2021

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