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ORPHA:3129

Sarcosinemia

medium confidenceDisorder

Also known as: Sarcosine dehydrogenase complex deficiency

Publications

794

84.2th percentile

Trials

0

Interventional, condition-specific

Researchers

317

Distinct authors in sample

Gene link

SARDH

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical . Mode of inheritance is .

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 (1)

sarcosinemia

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Moderate — SARDH

  2. LiteraturePresent

    794 matched papers (554 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Hypersarcosinemia; Hypersarcosinuria; Ataxia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Probably — there is moderate evidence for SARDH.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0010008

  • Hypersarcosinemia
  • Hypersarcosinuria
  • Ataxia
  • Motor delay
  • Pulmonic stenosis

Showing 5 of 23 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

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?

794

794 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.

794 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).

554 in the last 10 years · medium confidence · 84.2th percentile (publications denominator)

Phrase hits: 55 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

317

Distinct author names in 55 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.

  1. 01
    Benarrosh A2 papers · 2013

    Neurology Department and CMRR, CHU Reims, France. a.benarrosh@gmail.com.

    Papers in Europe PMC
  2. 02
    DAI Heping2 papers · 1999
    Papers in Europe PMC
  3. 03
    de Andrade RB2 papers · 2017

    PPG Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, Rua Ramiro Barcelos 2600, Porto Alegre, RS, CEP 90.035-003, Brazil.

    Papers in Europe PMC
  4. 04
    Dutra-Filho CS2 papers · 2017

    PPG Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, Rua Ramiro Barcelos 2600, Porto Alegre, RS, CEP 90.035-003, Brazil.

    Papers in Europe PMC
  5. 05
    Garnotel R2 papers · 2013

    Laboratory of Pediatric Biology and Research, American Memorial Hospital, CHU Reims, France.

    Papers in Europe PMC
  6. 06
    Gemelli T2 papers · 2017

    PPG Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, Rua Ramiro Barcelos 2600, Porto Alegre, RS, CEP 90.035-003, Brazil.

    Papers in Europe PMC
  7. 07
    Gillery P2 papers · 2013

    Laboratory of Pediatric Biology and Research, American Memorial Hospital, CHU Reims, France.

    Papers in Europe PMC
  8. 08
    Glorieux FH2 papers · 1996
    Papers in Europe PMC
  9. 09
    Guo X2 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  10. 10
    Harding CO2 papers · 1996

    Department of Pediatrics, Waisman Center, University of Wisconsin-Madison 53705.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

medium 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.

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 Sarcosinemia — 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.

("Sarcosinemia" OR "Sarcosine dehydrogenase complex deficiency") OR ("SARDH" OR "SARDH syndrome" OR "SARDH-related")

Run this search on Europe PMC

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

"Sarcosinemia" OR "Sarcosine dehydrogenase complex deficiency"

Study-type breakdown: 0 interventional · 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T22:17:26.724Z