ORPHA:309256
Metachromatic leukodystrophy, late infantile form
Also known as: Arylsulfatase A deficiency, late infantile form · MLD, late infantile form
Publications
2
8th percentile
Trials
0
Interventional, condition-specific
Researchers
7
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of Metachromatic leukodystrophy characterized by rapidly psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, , painful spasms, muscle weakness, , paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017729
- UMLS:C0751278
Additional Mondo synonyms (1)
arylsulfatase A deficiency, late infantile form
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
36 HPO annotations (e.g. Seizure; Dysarthria; Hyporeflexia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 23 for broader category metachromatic leukodystrophy
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
36
Associated phenotypes · MONDO:0017729
- Seizure
- Dysarthria
- Hyporeflexia
- Dystonia
- Abnormality of metabolism/homeostasis
Showing 5 of 36 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2
2 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
7
Distinct author names in 2 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Clausen J1 paper · 1973Papers in Europe PMC
- 02Gombolay GY1 paper · 2025
Division of Child Neurology, Children's Healthcare of Atlanta, GA; and.
Papers in Europe PMC - 03Gupta A1 paper · 2025
Department of Neurological Sciences, University of Nebraska Medical Center, Omaha.
Papers in Europe PMC - 04Kahn I1 paper · 2025
Division of Child Neurology, Children's National Hospital, Washington DC.
Papers in Europe PMC - 05Melchior JC1 paper · 1973Papers in Europe PMC
- 06Sahjwani D1 paper · 2025
Division of Child Neurology, Children's National Hospital, Washington DC.
Papers in Europe PMC - 07Sen K1 paper · 2025
Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington DC.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 23 trials are registered for metachromatic leukodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
23 interventional trials matched metachromatic leukodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: metachromatic leukodystrophy
23
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07046338·NOT YET RECRUITING·Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
Conditions: Metachromatic Leukodystrophy (MLD)·Matched via name phrase
- NCT03725670·NOT YET RECRUITING·Direct Lentiviral Injection Gene Therapy for MLD
Conditions: Metachromatic Leukodystrophy (MLD)·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (9)
- ctis·2025-522275-28-00·Authorised·Sample Collection Study to Monitor the Risk of Malignancy Due to Insertional Oncogenesis in Early Onset Patients with Metachromatic Leukodystrophy Treated with OTL-200 in the Clinical Development Program
skipped — LLM skipped (--skip-llm)
- ctis·2024-511968-81-00·Authorised, ongoing·A Proof-of-Concept Study to Explore the Potential Efficacy of Deferiprone in Patients With Pelizaeus-Merzbacher disease (PMD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514403-34-00·Cancelled·An Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-515253-25-00·Cancelled·A Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of
Metachromatic Leukodystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514402-31-00·Cancelled·A Global, Multicenter, Single-arm, Matched External Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-511970-66-00·Cancelled·A single arm, open label, clinical study of cryopreserved autologous CD34+ cells transduced with lentiviral vector containing human ARSA cDNA, for the treatment of early onset Metachromatic Leukodystrophy (MLD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511971-13-00·Expired·An open label, non-randomized trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518834-95-02·Authorised, ongoing·An open-label, non-randomized, extension study to further investigate the long-term efficacy, safety, and tolerability of Guanabenz in patients with early childhood onset vanishing white matter (VWM)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508935-30-00·Authorised, ongoing·Use of oral colchicine to determine restenosis in the superficial femoral artery - the COLSTENT study
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Metachromatic leukodystrophy, late infantile form — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Metachromatic leukodystrophy, late infantile form" OR "Arylsulfatase A deficiency, late infantile form" OR "MLD, late infantile form"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Metachromatic leukodystrophy, late infantile form" OR "Arylsulfatase A deficiency, late infantile form" OR "MLD, late infantile form"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"metachromatic leukodystrophy"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:56:11.476Z