RecruitingPhase 1NCT02254863
Metabolic
Metachromatic Leukodystrophy
Also known as MLD, arylsulfatase A deficiency, ARSA deficiency, sulfatide lipidosis
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA), leading to accumulation of sulfatides in the nervous system and progressive destruction of the myelin sheath. Three clinical f
ORPHA:512 ↗Gene ARSAPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Juvenile, AdultAutosomal recessive genetic
7
studies recruiting now
as of 7 Sept 2026
51
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
14 Jun 2021
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT04528355
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
RecruitingPhase 2NCT01962415
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
RecruitingNCT03047369
The Myelin Disorders Biorepository Project
RecruitingNCT04925349
Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 7 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: MLD Foundation Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA), leading to accumulation of sulfatides in the nervous system and progressive destruction of the myelin sheath. Three clinical forms are defined by age of onset: late infantile (most common), juvenile, and adult. The disease causes progressive loss of motor and cognitive function, and in late infantile cases, death typically occurs within 5-6 years of symptom onset.
Common clinical features
Gait disturbancePeripheral neuropathyCognitive declineBehavioral changesSeizuresSpasticityOptic atrophy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Atidarsagene Autotemcel (Lenmeldy)
Phase 2/3Busulfan (Busilvex)
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2Cebsulfase Alfa (Metazym)
Before you apply
Things trial teams commonly ask about for Metachromatic Leukodystrophy. Not eligibility rules; those are set by each study.
- Gene therapy (atidarsagene autotemcel, Libmeldy) is approved in Europe for pre-symptomatic or early symptomatic patients — trial eligibility may depend on prior treatment
- MRI white matter score and nerve conduction velocity are standard baseline measures for trial stratification
- Pre-symptomatic patients identified by newborn screening are a distinct high-priority enrollment group
- Adult-onset MLD trials are often separate from infantile/juvenile trials due to different disease trajectory
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).