ORPHA:35708
Aromatic L-amino acid decarboxylase deficiency
Also known as: AADC deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
702
Trials
7
Interventional, condition-specific
Researchers
1,120
Distinct authors in sample
Gene link
DDC
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular , movement disorders (oculogyric crisis, dystonia), , ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012084
- MeSH:C537437
- OMIM:608643
- UMLS:C1291564
- NCIT:C142085
Additional Mondo synonyms (2)
aromatic L-amino acid decarboxylase deficiency · aromatic L-amino-acid decarboxylase deficiency
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — DDC
- LiteraturePresent
702 matched papers (561 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
7 matched on ClinicalTrials.gov (2 recruiting in sample)
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?
Yes — we know a specific gene responsible (DDC).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
702
702 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
702 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
561 in the last 10 years · low confidence
Phrase hits: 702 · MeSH hits: 0
Who's working on it?
1,120
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Hwu WL20 papers · 2025
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, No. 8, Chung-Shan South Road, Taipei, 100226, Taiwan. hwuwlntu@ntu.edu.tw.
Papers in Europe PMC - 02Chien YH14 papers · 2026
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, and College of Medicine, National Taiwan University, Taipei, Taiwan.
Papers in Europe PMC - 03Lee NC13 papers · 2025
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, and College of Medicine, National Taiwan University, Taipei, Taiwan.
Papers in Europe PMC - 04Opladen T13 papers · 2026
Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
Papers in Europe PMC - 05Bertoldi M10 papers · 2026
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Papers in Europe PMC - 06Muramatsu SI9 papers · 2024
Division of Neurological Gene Therapy, Jichi Medical University, Tochigi, Japan.
Papers in Europe PMC - 07Bisello G8 papers · 2026
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Papers in Europe PMC - 08Kurian MA8 papers · 2025
Developmental Neurosciences, Zayed Centre for Research, UCL GOS-ICH; Department of Neurology, Great Ormond Street Hospital, London, UK.
Papers in Europe PMC - 09Leuzzi V8 papers · 2026
Department of Human Neuroscience, Sapienza - Università di Roma, Rome, Italy.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
low confidence · 89.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05765981·RECRUITING·An Early Clinical Trial to Evaluate VGN-R09b for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency.
Conditions: Aromatic L-amino Acid Decarboxylase (AADC) Deficiency·Matched via name phrase
- NCT02852213·RECRUITING·A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
Conditions: AADC Deficiency·Matched via name phrase
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Aromatic L-amino acid decarboxylase deficiency" OR "AADC deficiency" OR "aromatic L-amino-acid decarboxylase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aromatic L-amino acid decarboxylase deficiency" OR "AADC deficiency" OR "aromatic L-amino-acid decarboxylase deficiency" OR "DDC"
Recall-expansion terms: DDC
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 7 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
- Publication count (702) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T23:48:47.253Z