ORPHA:309271
Metachromatic leukodystrophy, adult form
Also known as: Arylsulfatase A deficiency, adult form · MLD, adult form
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of Metachromatic leukodystrophy characterized by psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.
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:0017730
- UMLS:C0751279
Additional Mondo synonyms (1)
arylsulfatase A deficiency, adult 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.”
1/6 stages with a signal
Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteratureNot checked
Query returned nothing — not evidence of absence Source
- Phenotype characterisedPresent
48 HPO annotations (e.g. Optic atrophy; Emotional lability; Short attention span) 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 trialNot checked
Broken query — trial zero not trusted
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)
48
Associated phenotypes · MONDO:0017730
- Optic atrophy
- Emotional lability
- Short attention span
- Hallucinations
- Decreased nerve conduction velocity
Showing 5 of 48 — 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?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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
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.
low confidence
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·RECRUITING·Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
Not reviewed·Conditions: Metachromatic Leukodystrophy (MLD)·Matched via name phrase
- NCT03725670·RECRUITING·Direct Lentiviral Injection Gene Therapy for MLD
Not reviewed·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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · 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 (11)
- 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)
- isrctn·ISRCTN06697555·No longer recruiting·Prospective clinical trial to compare safety & efficacy of BioMime Sirolimus stent Vs. Xience Everolimus stent by random assignment for treatment of coronary artery disease at multinational centres
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN72443728·No longer recruiting·Febuxostat versus allopurinol streamlined trial
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, adult 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, adult form" OR "Arylsulfatase A deficiency, adult form" OR "MLD, adult form"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Metachromatic leukodystrophy, adult form" OR "Arylsulfatase A deficiency, adult form" OR "MLD, adult form" OR "metachromatic leukodystrophy, juvenile form"
Recall-expansion terms: metachromatic leukodystrophy, juvenile 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: broken — strategies attempted: phrase, recall-expansion; with hits: none
Parent literature probe: metachromatic leukodystrophy (MONDO:0018868) — 3945 hits
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
- Zero publications but parent term metachromatic leukodystrophy has 3945 — literature likely indexed under a broader name
Ingested 2026-07-27T12:56:25.721Z · excluded from neglect metrics