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ORPHA:97244

Rigid spine syndrome

low confidenceDisorder

Also known as: Rigid spine congenital muscular dystrophy

Publications

3,891

Trials

0

Interventional, condition-specific

Researchers

1,285

Distinct authors in sample

Gene link

HMGCS1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Rigid spine syndrome (RSS) is a slowly childhood-onset muscular characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and respiratory insufficiency.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

rigid spine congenital muscular dystrophy

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

    Strong — HMGCS1

  2. LiteraturePresent

    3,891 matched papers (2,873 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Poor head control; Facial palsy; Flexion contracture) 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?

Yes — we know a specific gene responsible (HMGCS1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0019951

  • Poor head control
  • Facial palsy
  • Flexion contracture
  • Nocturnal hypoventilation
  • Generalized amyotrophy

Showing 5 of 53 — 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?

3,891

3,891 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.

3,891 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).

2,873 in the last 10 years · low confidence

Phrase hits: 303 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,285

Distinct author names in 200 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
    Merlini L9 papers · 2015

    Muscle Clinic, Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Muntoni F7 papers · 2020

    Dubowitz Neuromuscular Centre, University College London, Institute of Child Health, London, UK.

    Papers in Europe PMC
  3. 03
    Nishino I7 papers · 2026

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Richard P7 papers · 2025

    AP-HP, Groupe Hospitalier La Pitié-Salpôtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, F-75013, Paris, France.

    Papers in Europe PMC
  5. 05
    Schoser B7 papers · 2024

    From the Emory Genetics Laboratory (Y.X.), Division of Medical Genetics (W.R.W.), Department of Human Genetics, Emory University, Atlanta, GA; Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universität, München, Germany (B.S.); Department of Human Genetics, UCLA School of Medicine, CA (A.R.R., S.F.N.); Instituto de Genetica Medica, Hospital Italiano, Montevideo, Uruguay (R.Q., A.V.); Institute of Human Genetics, Medical University of Graz (V.R., C.B., C.W.); and Department for Mathematics and Scientific Computing, Karl-Franzens-University Graz, Graz, Austria (G.S.-T.).

    Papers in Europe PMC
  6. 06
    Quijano-Roy S6 papers · 2025

    APHP-Université Paris-Saclay, Reference Center for Neuromuscular Disorders Nord-Est-Ile de France, FILNEMUS, ERN-Euro-NMD, Creteil, France; Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches, France.

    Papers in Europe PMC
  7. 07
    Stojkovic T6 papers · 2026

    Sorbonne Universités,UPMCUniv Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, F-75013 Paris, France.

    Papers in Europe PMC
  8. 08
    Stübgen JP6 papers · 2008

    Department of Neurology, Weill Medical College, Cornell University, New York, NY 10021, USA.

    Papers in Europe PMC
  9. 09
    Ferreiro A5 papers · 2024

    Basic and Translational Myology Laboratory, Université Paris, BFA, UMR 8251, CNRS, 75013 Paris, France; APHP, Reference Center for Neuromuscular Disorders Nord-Est-Ile de France, Neuromyology Department, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address: ana.b.ferreiro@gmail.com.

    Papers in Europe PMC
  10. 10
    Malfatti E5 papers · 2026

    Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

    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.

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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Rigid spine 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.

("Rigid spine syndrome" OR "Rigid spine congenital muscular dystrophy") OR (MESH:"Rigid spine syndrome") OR ("HMGCS1" OR "HMGCS1 syndrome" OR "HMGCS1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Rigid spine syndrome

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

"Rigid spine syndrome" OR "Rigid spine congenital muscular dystrophy"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (3891) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:04:00.854Z