Article

Newborn Screening for Metachromatic Leukodystrophy: Care Pathway and Early Clinical Outcomes from German and Austrian Pilot Programs

2026-04-28

Abstract excerpt

<title>Abstract</title> <p> Background Metachromatic leukodystrophy (MLD) is a rapidly progressive leukodystrophy that leads to severe disability and early death if untreated. Autologous hematopoietic stem and progenitor cell gene therapy (HSPC-GT, atidarsagene autotemcel, arsa-cel) for early onset subtypes and allogenic hematopoietic stem cell transplantation (HSCT) for late onset disease substantially alters...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5df434fc-c825-5ebd-a204-4b81ca9ceea9
DOI: 10.21203/rs.3.rs-9496450/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Newborn Screening for Metachromatic Leukodystrophy: Care Pathway and Early Clinical Outcomes from German and Austrian Pilot ProgramsDOI 10.21203/rs.3.rs-9496450/v1Read

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatmentSemantic proximity Read

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.Semantic proximity Read

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.Semantic proximity Read

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.Semantic proximity Read

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesSemantic proximity Read

Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patientsSemantic proximity Read

The 2024 update of IUIS phenotypic classification of human inborn errors of immunitySemantic proximity Read

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilitySemantic proximity Read

Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)Semantic proximity Read

Effect of Newborn Genomic Screening for Lysosomal Storage Disorders: A Randomized Clinical Trial in ChinaSemantic proximity Read

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.Semantic proximity Read

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic ConditionsSemantic proximity Read