RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:664

Ornithine transcarbamylase deficiency

medium confidenceDisorder

Also known as: OCT deficiency · OTC deficiency · Ornithine carbamoyltransferase deficiency

Publications

3,231

89.6th percentile

Trials

14

Interventional, condition-specific

Researchers

1,276

Distinct authors in sample

Gene link

OTC

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, -onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of that can be fatal and which can lead to neurological sequelae.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

OTCD · ornithine carbamoyltransferase deficiency · ornithine carbamoyltransferase deficiency disease · ornithine transcarbamylase 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — OTC

  2. LiteraturePresent

    3,231 matched papers (1,576 in last 10 years) Source

  3. Phenotype characterisedPresent

    54 HPO annotations (e.g. Aminoaciduria; Lethargy; Anorexia) Source

  4. Animal modelPresent

    11 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 12 EMA designations (1 FDA orphan-indication approval) — e.g. L-Citrulline Source

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (3 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 (OTC).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

54

Associated phenotypes · MONDO:0010703

  • Aminoaciduria
  • Lethargy
  • Anorexia
  • Delirium
  • Seizure

Showing 5 of 54 — open Monarch for the full list.

Animal models (Monarch / Alliance)

11

Model associations linked to this Mondo ID

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)

14

Designations · 1 with FDA orphan-indication approval

  • FDA L-CitrullineOrnithine Transcarbamylase Deficiency · 2020-11-03 · Not FDA Approved for Orphan Indication
  • EMA heterologous human adult liver-derived stem cellsTreatment of ornithine transcarbamylase deficiency · 27/09/2011 · PositiveEMA designation
  • EMA sodium benzoate;sodium phenylacetateTreatment of ornithine transcarbamylase deficiency · 24/04/2019 · PositiveEMA designation
  • EMA adeno-associated viral vector serotype 8 encoding human ornithine transcarbamylase (avalotcagene ontaparvovec)Treatment of ornithine transcarbamylase deficiency · 21/03/2016 · PositiveEMA designation
  • EMA modified messenger ribonucleic acid encoding human ornithine transcarbamylase enzyme encapsulated into lipid nanoparticlesTreatment of ornithine transcarbamylase deficiency · 20/04/2017 · PositiveEMA designation
  • EMA Adeno-associated viral vector serotype LK03 encoding human ornithine transcarbamylaseTreatment of ornithine transcarbamylase deficiency · 20/03/2017 · PositiveEMA designation
  • EMA mRNA encoding modified human ornithine transcarbamylaseTreatment of ornithine transcarbamylase deficiency · 18/07/2022 · PositiveEMA designation
  • EMA human heterologous liver cells (Heparesc)Treatment of ornithine-transcarbamylase deficiency · 14/09/2007 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0010703

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,231

3,231 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.

3,231 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).

1,576 in the last 10 years · medium confidence · 89.6th percentile (publications denominator)

Phrase hits: 3,170 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,276

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.

  1. 01
    Gropman AL8 papers · 2026

    Division of Neurodevelopmental Pediatrics and Neurogenetics, Children's National Health System and The George Washington School of Medicine, Washington, District of Columbia, USA.

    Papers in Europe PMC
  2. 02
    Häberle J7 papers · 2026

    University Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  3. 03
    Wang Y5 papers · 2025

    Department of Pediatrics, Xijing Hospital, The Fourth Military Medical University, Xi'an, 710032, China.

    Papers in Europe PMC
  4. 04
    Alexander IE4 papers · 2026

    Gene Therapy Research Unit, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney and Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.

    Papers in Europe PMC
  5. 05
    Chen Z4 papers · 2026

    The First Affiliated Hospital of Xinjiang Medical University, Urumqi Xinjiang , China.

    Papers in Europe PMC
  6. 06
    Kasahara M4 papers · 2025

    Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Laemmle A4 papers · 2025

    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

    Papers in Europe PMC
  8. 08
    Li H4 papers · 2026

    Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

    Papers in Europe PMC
  9. 09
    Liu Y4 papers · 2026

    Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.

    Papers in Europe PMC
  10. 10
    Nagamani SCS4 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

medium confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

14 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

14 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 21 · after dedupe 21 · already on CT.gov 2 · kept 0 · parent 0 · uncertain 19 · dropped 0 · fetched 2026-07-29

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 (19)

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 Ornithine transcarbamylase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Urea cycle disorder as a category (Groups 1 and 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Ornithine transcarbamylase deficiency" OR "OCT deficiency" OR "OTC deficiency" OR "Ornithine carbamoyltransferase deficiency" OR "ornithine carbamoyltransferase deficiency disease") OR ("OTC syndrome" OR "OTC-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Ornithine transcarbamylase deficiency" OR "OCT deficiency" OR "OTC deficiency" OR "Ornithine carbamoyltransferase deficiency" OR "ornithine carbamoyltransferase deficiency disease"

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: 14 interventional · 14 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

Synonyms dropped by stoplist: OTCD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:48:57.834Z