The first clinical application of lentiviral-based gene therapy was for treatment of inherited metabolic disorders including X-linked adrenoleukodystrophy (Eichler et al., 2017), metachromatic leukodystrophy (Rosenberg et al., 2016), and mucopolysaccharidoses (Kinsella et al., 2020), with the aim of increasing enzyme bioavailability and brain entry (Begley et al., 2008) for correction of the neuropathological phenotype (see below in the disease sections for more details).

Original title: “Frontiers | Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord”

You know there have been trials ... temporary, and then do the gene therapy I mean. The other question is: Cumulative treatment, which you know in rare diseases doesn't seem to be anything that you know would happen in clinical trials, very interestingly compared to other ... You know there have been trials going into enzyme replacement and other things, but really what would be ideal would be having a bridge to gene therapy so that when someone has got symptoms of MLD, which are early juvenile or pre- symptomatic children, that you don't have to worry as much if you can give them a bridge, something temporary, and then do the gene therapy I mean. The other question is: Cumulative treatment, which you know in rare diseases doesn't seem to be anything that you know would happen in clinical trials, very interestingly compared to other conditions. So if you think about childhood cancer, you know treatment is always cumulative. You know you start regimen, this regimen and then when they don't respond, you add something else. And you add something else and you add something else, and that's well known and you know when you have clinical trials showing that something can be added on as added therapy that is beneficial in rare diseases it seems to be harder to do. Is that you know, because it's rare disease, funding and research and things and patient eligibility, sometimes a patient having had some other treatment precludes them from a particular clinical trial because that may modify the result, whereas if you look at childhood cancer that doesn't happen. So it is interesting how we may need to think, change our thinking with rare diseases. Recorded Webinar MLD-S4-M3 (Dr Dipak Ram and Dr Mireia Del Toro)

Original title: “Rare Diseases – Current and Upcoming Treatments | EIP Metachromatic Leukodystrophy (MLD)”

The Health Resources and Services Administration (HRSA) published a Federal Register notice on August 14, 2025 (90 FR 39196), requesting comments from the public on the potential recommendation of adding Metachromatic Leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP). After consideration of public comments and evidence-based reports, HRSA recommended to the Secretary of Health and Human Services (HHS) that MLD be added to the RUSP. The Secretary of HHS has accepted the recom

Original title: “Addition of Metachromatic Leukodystrophy to the Recommended Uniform Screening Panel”

The National Organization for Rare Disorders (NORD) applauds the Department of Health and Human Services (HHS) for adding metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) to the Recommended Uniform … Continue reading "NORD CEO Statement on the Addition of Metachromatic Leukodystrophy (MLD) and Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel"

Original title: “NORD CEO Statement on the Addition of Metachromatic Leukodystrophy (MLD) and Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel”

The U.S. Department of Health and Human Services has added Duchenne muscular dystrophy and Metachromatic Leukodystrophy (MLD) to the federal Recommended Uniform Screening Panel (RUSP)! The RUSP is a list of disorders […] The post HHS Adds Duchenne Muscular Dystrophy and MLD to the Federal Recommended Uniform Screening Panel (RUSP) appeared first on EveryLife Foundation for Rare Diseases.

Original title: “HHS Adds Duchenne Muscular Dystrophy and MLD to the Federal Recommended Uniform Screening Panel (RUSP)”