ORPHA:363623
GMPPB-related limb-girdle muscular dystrophy R19
Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2T · GMPPB-related LGMD R19 · LGMD type 2T · LGMD2T · Limb-girdle muscular dystrophy type 2T
Publications
23
36.4th percentile
Trials
0
Interventional, condition-specific
Researchers
162
Distinct authors in sample
Gene link
GMPPB
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of limb-girdle muscular , that can present from birth to early childhood, characterized by , microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild and . Additional manifestations reported in some patients include cataracts, nystagmus, , and respiratory insufficiency.
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:0014142
- OMIM:615352
- UMLS:C4518000
Additional Mondo synonyms (4)
GMPPB autosomal recessive limb-girdle muscular dystrophy · LGMD-GMPPB related · MDDGC14 · autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB
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.
- Gene identifiedPresent
Strong — GMPPB
- LiteraturePresent
23 matched papers (19 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 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 (GMPPB).
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?
23
23 papers have ever been published on this condition (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.
23 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).
19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
162
Distinct author names in 23 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.
- 01Cossée M2 papers · 2022
Laboratoire de Génétique Moléculaire, CHU de Montpellier, 34093 Montpellier, France.
Papers in Europe PMC - 02Lochmüller H2 papers · 2015
9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Papers in Europe PMC - 03Stojkovic T2 papers · 2022
APHP, Service de Neuromyologie, Centre de Référence Maladies Neuromusculaires Paris-Est, GH Pitié-Salpêtrière, 75651 Paris, France.
Papers in Europe PMC - 04Acosta SA1 paper · 2023
School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA.
Papers in Europe PMC - 05Altassan R1 paper · 2018
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 06Astrea G1 paper · 2018
Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Papers in Europe PMC - 07Attarian S1 paper · 2022
Service de Neurologie, FILNEMUS, Hôpital La Timone, CHU de Marseille, 13385 Marseille, France.
Papers in Europe PMC - 08Bartoli M1 paper · 2022
INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, 13385 Marseille, France.
Papers in Europe PMC - 09Barton ER1 paper · 2020
Center for Exercise Science, Department of Applied Physiology and Kinesiology, University of Florida College of Health and Human Performance, Gainesville, FL, USA.
Papers in Europe PMC - 10Basiri K1 paper · 2015
7 Neurology Department, Neuroscience Research Centre, Isfahan University of Medical Sciences, Isfahan, Iran.
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. 3 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 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.
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
- NCT07711730·RECRUITING·Telecare Psychosocial and Cognitive Intervention for Children and Adolescents With Limb-Girdle Muscular Dystrophy
Conditions: Limb-Girdle Muscular Dystrophy · Social Competence · Self Esteem · Health Related Quality of Life·Matched via name phrase
- NCT05230459·RECRUITING·A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Conditions: Limb Girdle Muscular Dystrophy · Limb-Girdle Muscular Dystrophy Type 2 · LGMD2I · Muscular Dystrophy·Matched via name phrase
Observational and natural-history studies
3 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
- NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase
- NCT05989620·RECRUITING·Long-Term Development of Muscular Dystrophy Outcome Assessments
Conditions: LGMD1B · LGMD1C · LGMD1D · LGMD1E·Matched via name phrase
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.
"GMPPB-related limb-girdle muscular dystrophy R19" OR "Autosomal recessive limb-girdle muscular dystrophy type 2T" OR "GMPPB-related LGMD R19" OR "LGMD type 2T" OR "LGMD2T" OR "Limb-girdle muscular dystrophy type 2T" OR "GMPPB autosomal recessive limb-girdle muscular dystrophy" OR "LGMD-GMPPB related" OR "MDDGC14" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GMPPB-related limb-girdle muscular dystrophy R19" OR "Autosomal recessive limb-girdle muscular dystrophy type 2T" OR "GMPPB-related LGMD R19" OR "LGMD type 2T" OR "LGMD2T" OR "Limb-girdle muscular dystrophy type 2T" OR "GMPPB autosomal recessive limb-girdle muscular dystrophy" OR "LGMD-GMPPB related" OR "MDDGC14" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB" OR "GMPPB" OR "muscular dystrophy-dystroglycanopathy, type C" OR "autosomal recessive limb-girdle muscular dystrophy" OR "myopathy caused by variation in GMPPB"
Recall-expansion terms: GMPPB, muscular dystrophy-dystroglycanopathy, type C, autosomal recessive limb-girdle muscular dystrophy, myopathy caused by variation in GMPPB
Study-type breakdown: 0 interventional · 3 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, 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 2026-07-27T14:39:57.814Z