Academic Journal
Infantile Krabbe disease (0–12 months), progression, and recommended endpoints for clinical trials
| Τίτλος: | Infantile Krabbe disease (0–12 months), progression, and recommended endpoints for clinical trials |
|---|---|
| Συγγραφείς: | Greco, Melissa R., Lopez, Mabel A., Beltran‐Quintero, Maria L., Tuc Bengur, Ecenur, Poe, Michele D., Escolar, Maria L. |
| Πηγή: | Annals of Clinical and Translational Neurology ; volume 11, issue 12, page 3064-3080 ; ISSN 2328-9503 2328-9503 |
| Στοιχεία εκδότη: | Wiley |
| Έτος έκδοσης: | 2024 |
| Συλλογή: | Wiley Online Library (Open Access Articles via Crossref) |
| Περιγραφή: | Objective Krabbe disease is due to deficiency of galactocerebrosidase, resulting in progressive neurodegeneration due to demyelination. The purpose of this study is to document disease progression in the newly classified infantile‐onset (0–12 months). We evaluated the outcomes of hematopoietic stem cell transplantation (HSCT) and described meaningful clinical endpoints. Methods Patients with infantile Krabbe disease were prospectively evaluated between 2000 and 2022. All patients underwent comprehensive and standardized protocols. Descriptive statistics and Kaplan–Meier survival curves were used for analysis. Results One hundred and thirty‐seven children with infantile Krabbe disease were included (68 males and 69 females). Of the 137, 96 were not treated and 41 underwent hematopoietic stem cell transplantation. Twenty‐three were asymptomatic and 18 symptomatic. Initial symptoms included irritability, developmental delay or loss of milestones, feeding difficulties, spasticity, and reflux with an average survival of 2.2. Abnormalities in nerve conduction studies, auditory brainstem responses, and brain MRIs were evident in both groups of patients. Age at transplantation and signs and symptoms determined functional outcomes. Symptomatic and asymptomatic transplanted patients showed an increase in galactocerebrosidase and a decrease in psychosine, but did not reach the normal range. The median survival for transplanted symptomatic patients was 5 years while asymptomatic was extended to 15.5 years. Interpretation Infantile Krabbe disease with onset before 12 months is rapidly progressive. Irreversible brain damage occurs unless timely HSCT is performed. HSCT does not prevent the progression of peripheral nerve disease. This study can be used to monitor patients and evaluate the effects of future therapies. |
| Τύπος εγγράφου: | article in journal/newspaper |
| Γλώσσα: | English |
| DOI: | 10.1002/acn3.52114 |
| Διαθεσιμότητα: | https://doi.org/10.1002/acn3.52114 https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52114 |
| Rights: | http://creativecommons.org/licenses/by/4.0/ |
| Αριθμός Καταχώρησης: | edsbas.84971FDC |
| Βάση Δεδομένων: | BASE |
| FullText | Text: Availability: 0 CustomLinks: – Url: https://doi.org/10.1002/acn3.52114# Name: EDS - BASE (ns324271) Category: fullText Text: View record from BASE |
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| Items | – Name: Title Label: Title Group: Ti Data: Infantile Krabbe disease (0–12 months), progression, and recommended endpoints for clinical trials – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Greco%2C+Melissa+R%2E%22">Greco, Melissa R.</searchLink><br /><searchLink fieldCode="AR" term="%22Lopez%2C+Mabel+A%2E%22">Lopez, Mabel A.</searchLink><br /><searchLink fieldCode="AR" term="%22Beltran‐Quintero%2C+Maria+L%2E%22">Beltran‐Quintero, Maria L.</searchLink><br /><searchLink fieldCode="AR" term="%22Tuc+Bengur%2C+Ecenur%22">Tuc Bengur, Ecenur</searchLink><br /><searchLink fieldCode="AR" term="%22Poe%2C+Michele+D%2E%22">Poe, Michele D.</searchLink><br /><searchLink fieldCode="AR" term="%22Escolar%2C+Maria+L%2E%22">Escolar, Maria L.</searchLink> – Name: TitleSource Label: Source Group: Src Data: Annals of Clinical and Translational Neurology ; volume 11, issue 12, page 3064-3080 ; ISSN 2328-9503 2328-9503 – Name: Publisher Label: Publisher Information Group: PubInfo Data: Wiley – Name: DatePubCY Label: Publication Year Group: Date Data: 2024 – Name: Subset Label: Collection Group: HoldingsInfo Data: Wiley Online Library (Open Access Articles via Crossref) – Name: Abstract Label: Description Group: Ab Data: Objective Krabbe disease is due to deficiency of galactocerebrosidase, resulting in progressive neurodegeneration due to demyelination. The purpose of this study is to document disease progression in the newly classified infantile‐onset (0–12 months). We evaluated the outcomes of hematopoietic stem cell transplantation (HSCT) and described meaningful clinical endpoints. Methods Patients with infantile Krabbe disease were prospectively evaluated between 2000 and 2022. All patients underwent comprehensive and standardized protocols. Descriptive statistics and Kaplan–Meier survival curves were used for analysis. Results One hundred and thirty‐seven children with infantile Krabbe disease were included (68 males and 69 females). Of the 137, 96 were not treated and 41 underwent hematopoietic stem cell transplantation. Twenty‐three were asymptomatic and 18 symptomatic. Initial symptoms included irritability, developmental delay or loss of milestones, feeding difficulties, spasticity, and reflux with an average survival of 2.2. Abnormalities in nerve conduction studies, auditory brainstem responses, and brain MRIs were evident in both groups of patients. Age at transplantation and signs and symptoms determined functional outcomes. Symptomatic and asymptomatic transplanted patients showed an increase in galactocerebrosidase and a decrease in psychosine, but did not reach the normal range. The median survival for transplanted symptomatic patients was 5 years while asymptomatic was extended to 15.5 years. Interpretation Infantile Krabbe disease with onset before 12 months is rapidly progressive. Irreversible brain damage occurs unless timely HSCT is performed. HSCT does not prevent the progression of peripheral nerve disease. This study can be used to monitor patients and evaluate the effects of future therapies. – Name: TypeDocument Label: Document Type Group: TypDoc Data: article in journal/newspaper – Name: Language Label: Language Group: Lang Data: English – Name: DOI Label: DOI Group: ID Data: 10.1002/acn3.52114 – Name: URL Label: Availability Group: URL Data: https://doi.org/10.1002/acn3.52114<br />https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52114 – Name: Copyright Label: Rights Group: Cpyrght Data: http://creativecommons.org/licenses/by/4.0/ – Name: AN Label: Accession Number Group: ID Data: edsbas.84971FDC |
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