RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:258

Laminin subunit alpha 2-related congenital muscular dystrophy

high confidenceDisorder

Also known as: CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency · Congenital muscular dystrophy type 1A · MDC1A · Merosin-negative congenital muscular dystrophy

Publications

7,651

96th percentile

Trials

0

Interventional, condition-specific

Researchers

1,177

Distinct authors in sample

Gene link

LAMA2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare muscular characterized by severe , muscle weakness and muscle wasting presenting at birth or during infancy, poor spontaneous movements and contractures of the large joints. Patients have poor motor development leading to feeding and respiratory issues.

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)

LAMA2 congenital muscular dystrophy · congenital merosin-deficient muscular dystrophy type 1A · congenital muscular dystrophy caused by mutation in LAMA2 · congenital muscular dystrophy due to laminin alpha2 deficiency · merosin-deficient congenital muscular dystrophy type 1A · merosin-negative congenital muscular dystrophy · muscular dystrophy, congenital merosin-deficient, type 1A · muscular dystrophy, congenital, merosin deficient or partially deficient

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — LAMA2

  2. LiteraturePresent

    7,651 matched papers (2,589 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 7 for broader category congenital muscular dystrophy

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 (LAMA2).

GenCC classification: Definitive.

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?

7,651

7,651 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=5449) is 41.

7,651 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).

2,589 in the last 10 years · high confidence · 96th percentile (publications denominator)

Phrase hits: 7,651 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,177

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
    Burkin DJ8 papers · 2023

    Department of Pharmacology, Reno School of Medicine, University of Nevada, Reno, NV, United States.

    Papers in Europe PMC
  2. 02
    Yokota T8 papers · 2025

    Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton Canada.

    Papers in Europe PMC
  3. 03
    Durbeej M7 papers · 2025

    Muscle Biology Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden. Electronic address: madeleine.durbeej-hjalt@med.lu.se.

    Papers in Europe PMC
  4. 04
    Cohn RD5 papers · 2023

    Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, Canada.

    Papers in Europe PMC
  5. 05
    Kemaladewi DU5 papers · 2025

    Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, Canada.

    Papers in Europe PMC
  6. 06
    Thorsteinsdóttir S5 papers · 2024

    Departamento de Biologia Animal, Centro de Ecologia, Evolução e Alterações Ambientais, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisbon, Portugal.

    Papers in Europe PMC
  7. 07
    Voermans NC5 papers · 2024

    From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  8. 08
    Bouman K4 papers · 2024

    From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  9. 09
    Erasmus CE4 papers · 2024

    From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Groothuis JT4 papers · 2024

    From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.

    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. 10 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 7 trials are registered for congenital muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

7 interventional trials matched congenital muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital muscular dystrophy

7

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

10 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

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 2026-07-26

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.

"Laminin subunit alpha 2-related congenital muscular dystrophy" OR "CMD1A" OR "Congenital muscular dystrophy due to laminin alpha2 deficiency" OR "Congenital muscular dystrophy type 1A" OR "MDC1A" OR "Merosin-negative congenital muscular dystrophy" OR "LAMA2 congenital muscular dystrophy" OR "congenital merosin-deficient muscular dystrophy type 1A" OR "congenital muscular dystrophy caused by mutation in LAMA2" OR "merosin-deficient congenital muscular dystrophy type 1A" OR "muscular dystrophy, congenital merosin-deficient, type 1A" OR "muscular dystrophy, congenital, merosin deficient or partially deficient"

Run this search on Europe PMC

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

"Laminin subunit alpha 2-related congenital muscular dystrophy" OR "CMD1A" OR "Congenital muscular dystrophy due to laminin alpha2 deficiency" OR "Congenital muscular dystrophy type 1A" OR "MDC1A" OR "Merosin-negative congenital muscular dystrophy" OR "LAMA2 congenital muscular dystrophy" OR "congenital merosin-deficient muscular dystrophy type 1A" OR "congenital muscular dystrophy caused by mutation in LAMA2" OR "merosin-deficient congenital muscular dystrophy type 1A" OR "muscular dystrophy, congenital merosin-deficient, type 1A" OR "muscular dystrophy, congenital, merosin deficient or partially deficient" OR "LAMA2" OR "LAMA2-related muscular dystrophy"

Recall-expansion terms: LAMA2, LAMA2-related muscular dystrophy

Study-type breakdown: 0 interventional · 10 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"congenital muscular dystrophy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-26T13:06:26.792Z