ORPHA:401866
Childhood-onset spasticity with hyperglycinemia
Also known as: Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
10
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
98
Distinct authors in sample
Gene link
GLRX5
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of spastic associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.
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:0014803
- OMIM:616859
- UMLS:C4225178
Additional Mondo synonyms (3)
SPAHGC · childhood-onset spasticity with variant non-ketotic hyperglycinemia · spasticity, childhood-onset, with hyperglycinemia
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.”
2/6 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
Strong — GLRX5
- LiteraturePresent
10 matched papers (10 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 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 (GLRX5).
GenCC classification: Strong.
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?
10
10 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
10 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
98
Distinct author names in 10 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.
- 01Maio N2 papers · 2022
Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
Papers in Europe PMC - 02Rouault TA2 papers · 2022
Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA. Electronic address: rouault@mail.nih.gov.
Papers in Europe PMC - 03Adam S1 paper · 2022
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 04Al-Ali MT1 paper · 2021
Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Papers in Europe PMC - 05Alderman E1 paper · 2022
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 06Armstrong L1 paper · 2022
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 07Aubertin G1 paper · 2022
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 08Baker MJ1 paper · 2022
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3052, Australia.
Papers in Europe PMC - 09Bhattacharya K1 paper · 2021
Department of Biochemical Genetics and Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, NSW, Australia. Kaustuv.bhattacharya@health.nsw.gov.au.
Papers in Europe PMC - 10Bizzari S1 paper · 2021
Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Childhood-onset spasticity with hyperglycinemia" OR "Childhood-onset spasticity with variant non-ketotic hyperglycinemia" OR "Spasticity-ataxia-gait anomalies syndrome" OR "SPAHGC" OR "spasticity, childhood-onset, with hyperglycinemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Childhood-onset spasticity with hyperglycinemia" OR "Childhood-onset spasticity with variant non-ketotic hyperglycinemia" OR "Spasticity-ataxia-gait anomalies syndrome" OR "SPAHGC" OR "spasticity, childhood-onset, with hyperglycinemia" OR "GLRX5"
Recall-expansion terms: GLRX5
Study-type breakdown: 0 interventional · 0 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
Ingested 2026-07-27T15:26:38.684Z