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ORPHA:510

Lesch-Nyhan syndrome

high confidenceDisorder

Also known as: HPRT complete deficiency · HPRT deficiency grade IV · Hypoxanthine guanine phosphoribosyltransferase complete deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV

Publications

18,052

97.2th percentile

Trials

1

Interventional, condition-specific

Researchers

993

Distinct authors in sample

Gene link

HPRT1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, , and self-injurious behaviour (SIB).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

Lesch Nyhan Syndrome · Lesch-Nyhan syndrome, X-linked recessive · X-linked hyperuricemia · X-linked hyperuricemia (disorder) [ambiguous] · complete hypoxanthine-guanine phosphoribosyltransferase deficiency · deficiency of IMP pyrophosphorylase · hypoxanthine guanine phosphoribosyltransferase complete deficiency · hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV

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 — HPRT1

  2. LiteraturePresent

    18,052 matched papers (10,868 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Nephrocalcinosis; Megaloblastic anemia; Hyperuricosuria) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. ecopipam hydrochloride Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (HPRT1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

42

Associated phenotypes · MONDO:0010298

  • Nephrocalcinosis
  • Megaloblastic anemia
  • Hyperuricosuria
  • Hyperreflexia
  • Opisthotonus

Showing 5 of 42 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA ecopipam hydrochlorideLesch-Nyhan Disease · 2009-07-21 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0010298

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

18,052

18,052 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

18,052 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).

10,868 in the last 10 years · high confidence · 97.2th percentile (publications denominator)

Phrase hits: 3,047 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

993

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
    Jinnah HA9 papers · 2025

    Departments of Neurology, Human Genetics, & Pediatrics, Emory University School of Medicine, Atlanta, Georgia.

    Papers in Europe PMC
  2. 02
    Dinasarapu AR4 papers · 2025

    Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.

    Papers in Europe PMC
  3. 03
    Visser JE4 papers · 2025

    Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Faculty of Science, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Amphia Hospital, Breda, The Netherlands. Electronic address: jasper.visser@radboudumc.nl.

    Papers in Europe PMC
  4. 04
    Kilic-Berkmen G3 papers · 2025

    Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.

    Papers in Europe PMC
  5. 05
    Peng Q3 papers · 2024

    Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, 111 East, 210th Street, Bronx, NY, 10467, USA.

    Papers in Europe PMC
  6. 06
    Perlmutter JS3 papers · 2025

    Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

    Papers in Europe PMC
  7. 07
    Shapira J3 papers · 2026

    Department of Pediatric Dentistry, The Hebrew University-Hadassah School of Dental Medicine, Jerusalem, Israel. shapiraj@cc.huji.ac.il.

    Papers in Europe PMC
  8. 08
    Sutcliffe DJ3 papers · 2025

    Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.

    Papers in Europe PMC
  9. 09
    Zhang H3 papers · 2025

    Department of Cardiovascular Medicine, Air Force Medical Center, Air Force Medical University, PLA, Beijing, China.

    Papers in Europe PMC
  10. 10
    Zhang K3 papers · 2025

    Department of Pediatrics, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Lesch-Nyhan syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Lesch-Nyhan syndrome" OR "HPRT complete deficiency" OR "HPRT deficiency grade IV" OR "Hypoxanthine guanine phosphoribosyltransferase complete deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" OR "Lesch Nyhan Syndrome" OR "Lesch-Nyhan syndrome, X-linked recessive" OR "X-linked hyperuricemia" OR "X-linked hyperuricemia (disorder) [ambiguous]" OR "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" OR "deficiency of IMP pyrophosphorylase" OR "deficiency of the IMP pyrophosphorylase") OR ("HPRT1" OR "HPRT1 syndrome" OR "HPRT1-related")

Run this search on Europe PMC

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

"Lesch-Nyhan syndrome" OR "HPRT complete deficiency" OR "HPRT deficiency grade IV" OR "Hypoxanthine guanine phosphoribosyltransferase complete deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" OR "Lesch Nyhan Syndrome" OR "Lesch-Nyhan syndrome, X-linked recessive" OR "X-linked hyperuricemia" OR "X-linked hyperuricemia (disorder) [ambiguous]" OR "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" OR "deficiency of IMP pyrophosphorylase" OR "deficiency of the IMP pyrophosphorylase"

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: 1 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

Ingested 2026-07-26T14:06:56.608Z