ORPHA:352649
Brain dopamine-serotonin vesicular transport disease
Publications
2,157
Trials
0
Interventional, condition-specific
Researchers
148
Distinct authors in sample
Gene link
SLC18A2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare -onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, and mood disturbances.
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:0018130
- OMIM:618049
- UMLS:C4303546
Additional Mondo synonyms (2)
PKDYS2 · parkinsonism-dystonia, infantile, 2
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SLC18A2
- LiteraturePresent
2,157 matched papers (1,290 in last 10 years) Source
- Phenotype characterisedPresent
60 HPO annotations (e.g. Global developmental delay; Hypertonia; Spastic tetraparesis) 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 found
No matched interventional trial under our ClinicalTrials.gov rules
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 (SLC18A2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
60
Associated phenotypes · MONDO:0018130
- Global developmental delay
- Hypertonia
- Spastic tetraparesis
- Secondary microcephaly
- Axial hypotonia
Showing 5 of 60 — 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?
2,157
2,157 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=3967) is 59.
2,157 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).
1,290 in the last 10 years · low confidence
Phrase hits: 26 · MeSH hits: 0
Who's working on it?
148
Distinct author names in 26 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.
- 01Alkhater RA2 papers · 2024
Women and Child Institute, John's Hopkins Aramco Healthcare (Jhah), Dhahran, Saudi Arabia.
Papers in Europe PMC - 02Jacobsen JC2 papers · 2018
Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand.
Papers in Europe PMC - 03Lehnert K2 papers · 2018
Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand.
Papers in Europe PMC - 04Snell RG2 papers · 2018
Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand. r.snell@auckland.ac.nz.
Papers in Europe PMC - 05Wilson C2 papers · 2018
Adult and Paediatric National Metabolic Service, Auckland City Hospital, Auckland, New Zealand.
Papers in Europe PMC - 06Abrishamcar S1 paper · 2022
Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Papers in Europe PMC - 07Al Masseri Z1 paper · 2024
Department of Pediatric, Medical Genetics Unit, Qatif Central Hospital, Eastern Health Cluster, Ministry of Health, Qatif, Saudi Arabia.
Papers in Europe PMC - 08Al Sari RR1 paper · 2025
Department of General Medicine and Surgery, Batterjee Medical College, Jeddah, Saudi Arabia.
Papers in Europe PMC - 09Al Zoabi BMK1 paper · 2025
Department of General Medicine and Surgery, Batterjee Medical College, Jeddah, Saudi Arabia.
Papers in Europe PMC - 10Alghobaishi A1 paper · 2025
King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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.
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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- ctis·2023-510098-33-01·Authorised·A Phase III, Multicentre, Randomised, Open-label Study to Compare the Efficacy and Safety of AZD0486 plus Rituximab versus Chemotherapy plus Rituximab in Previously Untreated Participants with Follicular Lymphoma (SOUNDTRACK-F1)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526304-79-00·Authorised·A Phase III, Randomized, Double-blind, Parallel-group, Placebo controlled, Multicenter Study to Evaluate the Effect of Elecoglipron in Reducing Cardiovascular Outcomes in Participants with HFpEF and HFmrEF (Elevate-HF)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525382-47-00·Authorised·A Phase 2 Study of Alisertib in Combination with Paclitaxel in Patients with Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-525106-37-00·Authorised·Comparative study of two vaccination schedules for the subunit Herpes Zoster vaccine in Multiple Sclerosis and Neuromyelitis optica spectrum disease patients treated with anti-CD20 therapy: an open-label randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524003-68-00·Authorised·OBINUSS - Safety and efficacy of obinutuzumab in systemic sclerosis: a phase II, randomized, double-blinded versus placebo-controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525933-22-00·Authorised·STRategiEs for Antiplatelet Management foLlowIng acute coroNary syndromE (STREAMLINE)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525484-40-00·Authorised·A Phase 1 Study of PRT12396 in Participants with Select Myeloproliferative Neoplasms
skipped — LLM skipped (--skip-llm)
- ctis·2026-526368-18-00·Authorised·A Randomized Controlled Study Evaluating Short-Term Dual Antiplatelet Therapy with Low-Dose Ticagrelor (60 mg) Followed by Monotherapy versus Standard-Duration Dual Antiplatelet Therapy with Clopidogrel in Patients with Chronic Coronary Syndrome Undergoing Percutaneous Coronary Intervention: the STELAR trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524233-45-00·Authorised·A first-in-human, randomized, double-blind, placebo-controlled, 3-part study assessing the safety, tolerability, pharmacodynamics and pharmacokinetics of GL0071 after single and repeated ascending subcutaneous doses in healthy normal weight, overweight and obese participants, as well as a 12-week treatment randomized, double blind, placebo-controlled exploratory Proof-of-Concept study in overweight and obese participants.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522757-19-00·Authorised·A Cancer Research UK Phase II trial of CY-101 given via intratumoural administration in locally advanced or metastatic adrenocortical carcinoma (CLARITY)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524816-13-00·Authorised·A Phase 2 Study Evaluating the Safety and Efficacy of Neoadjuvant Amivantamab in Combination with Lazertinib or Chemotherapy in Resectable EGFR-Mutated Non-Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522488-14-00·Authorised·A clinical study to compare efficacy and safety of two different doses of CagriSema and semaglutide in participants with obesity with or without type 2 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-523819-11-00·Authorised·A Phase 3 Randomized, Open Label, Multicenter Study to Evaluate the Safety and Efficacy of ABBV-706 versus Standard of Care in Subjects with Relapsed/Refractory Small Cell Lung Cancer (SCLC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-524688-19-00·Authorised·A Phase III Randomized, Double-blind, Placebo-controlled Multicenter Master Protocol to Evaluate the Efficacy and Safety of Elecoglipron in Participants with Obesity or Overweight with or without Type 2 Diabetes Mellitus (Embold)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2026-525862-23-00·Authorised·Evaluation of the effect of botulinum toxin on refractory upper limb rest tremor in parkinsonian patients, double-blind, placebo-controlled cross-over study : TOX PARK
skipped — LLM skipped (--skip-llm)
- ctis·2025-525040-18-00·Authorised·DECREASE-IPC 2025-068 : De-Ecalating neoadjuvant Chemoimmunotherapy in early triple-negative BREASt cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523650-14-00·Authorised·functional imaging of digital osteoarthritis and rheumatoid arthritis using 99mTc-NTP15-5 in nuclear medicine : phase II clinical study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2026-525417-31-00·Authorised·A randomised active-controlled trial to assess the safety and pharmacodynamics of two blinded doses of vortosiran and open-label apixaban in patients with non-valvular atrial fibrillation
skipped — LLM skipped (--skip-llm)
- ctis·2026-525185-21-00·Authorised·IKF-099/D-FLOT-TNT
Total Neoadjuvant Treatment with preoperative FLOT/Durvalumab plus postoperative Durvalumab for Resectable Gastroesophageal Adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-522263-14-00·Authorised·A Phase 2/3 Randomized, Double Blind, Placebo-Controlled, Dose Ranging Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants with Huntington’s Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524418-27-00·Authorised·A Phase 1/2, dose escalation and expansion study of TRI-611, an oral ALK molecular glue degrader in participants with advanced ALK-positive NSCLC
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
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 Brain dopamine-serotonin vesicular transport disease — 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.
("Brain dopamine-serotonin vesicular transport disease" OR "PKDYS2" OR "parkinsonism-dystonia, infantile, 2") OR ("SLC18A2" OR "SLC18A2 syndrome" OR "SLC18A2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brain dopamine-serotonin vesicular transport disease" OR "PKDYS2" OR "parkinsonism-dystonia, infantile, 2"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (2157) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:15:32.102Z