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ORPHA:280333

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

low confidenceDisorder

Also known as: Alpha-dystroglycan-related LGMD R16 · Autosomal recessive limb-girdle muscular dystrophy type 2P · LGMD type 2P · LGMD2P · Limb-girdle muscular dystrophy type 2P

Publications

2,323

Trials

0

Interventional, condition-specific

Researchers

191

Distinct authors in sample

Gene link

DAG1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular characterized by slowly-, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe . Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

DAG1 autosomal recessive limb-girdle muscular dystrophy · MDDGC9 · autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — DAG1

  2. LiteraturePresent

    2,323 matched papers (1,393 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Hypoglycosylation of alpha-dystroglycan; Lumbar hyperlordosis; Delayed speech and language development) 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 trialPartial

    None under the specific name; 24 for broader category limb-girdle 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 (DAG1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0013440

  • Hypoglycosylation of alpha-dystroglycan
  • Lumbar hyperlordosis
  • Delayed speech and language development
  • Gait disturbance
  • Difficulty climbing stairs

Showing 5 of 28 — 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?

2,323

2,323 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.

2,323 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).

1,393 in the last 10 years · low confidence

Phrase hits: 25 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

191

Distinct author names in 25 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
    Brancaccio A4 papers · 2025

    School of Biochemistry, University of Bristol, Bristol, BS8 1TD, United Kingdom; Istituto di Chimica del Riconoscimento Molecolare-CNR, c/o Università Cattolica del Sacro Cuore, Roma, 00168, Italy.

    Papers in Europe PMC
  2. 02
    Bigotti MG2 papers · 2025

    School of Biochemistry, University of Bristol, Bristol, BS8 1TD, United Kingdom.

    Papers in Europe PMC
  3. 03
    Bozzi M2 papers · 2025

    Istituto di Biochimica e Biochimica Clinica, Università Cattolica del Sacro Cuore, Roma 00168, Italy.

    Papers in Europe PMC
  4. 04
    Campbell KP2 papers · 2025

    Howard Hughes Medical Institute, The University of Iowa, Iowa City, IA 52242; Department of Molecular Physiology and Biophysics, The University of Iowa, Iowa City, IA 52242; Department of Neurology, The University of Iowa, Iowa City, IA 52242; Department of Internal Medicine, The University of Iowa, Iowa City, IA 52242; kevin-campbell@uiowa.edu.

    Papers in Europe PMC
  5. 05
    Cassetta A2 papers · 2025

    Istituto di Cristallografia-CNR, Trieste Outstation, Trieste, 34149, Italy.

    Papers in Europe PMC
  6. 06
    Covaceuszach S2 papers · 2025

    Istituto di Cristallografia-CNR, Trieste Outstation, Trieste, 34149, Italy.

    Papers in Europe PMC
  7. 07
    Hübner W2 papers · 2025

    Department of Physics, University of Bielefeld, 33615, Bielefeld, Germany.

    Papers in Europe PMC
  8. 08
    Sciandra F2 papers · 2025

    Istituto di Chimica del Riconoscimento Molecolare-CNR, c/o Università Cattolica del Sacro Cuore, Roma, 00168, Italy.

    Papers in Europe PMC
  9. 09
    Acosta SA1 paper · 2023

    School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA.

    Papers in Europe PMC
  10. 10
    Akaaboune M1 paper · 2025

    Department of Molecular, Cellular, and Developmental Biology, Ann Arbor, MI, United States.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 24 trials are registered for limb-girdle muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

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

Broader category: limb-girdle muscular dystrophy

24

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

2 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

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 2026-07-30

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).

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 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 — 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.

("Alpha-dystroglycan-related limb-girdle muscular dystrophy R16" OR "Alpha-dystroglycan-related LGMD R16" OR "Autosomal recessive limb-girdle muscular dystrophy type 2P" OR "LGMD type 2P" OR "LGMD2P" OR "Limb-girdle muscular dystrophy type 2P" OR "DAG1 autosomal recessive limb-girdle muscular dystrophy" OR "MDDGC9" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1") OR ("DAG1" OR "DAG1 syndrome" OR "DAG1-related")

Run this search on Europe PMC

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

"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16" OR "Alpha-dystroglycan-related LGMD R16" OR "Autosomal recessive limb-girdle muscular dystrophy type 2P" OR "LGMD type 2P" OR "LGMD2P" OR "Limb-girdle muscular dystrophy type 2P" OR "DAG1 autosomal recessive limb-girdle muscular dystrophy" OR "MDDGC9" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

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
  • Publication count (2323) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T11:53:10.290Z