ORPHA:34520
Congenital muscular dystrophy with integrin alpha-7 deficiency
Also known as: Congenital muscular dystrophy with ITGA7 deficiency
Publications
2
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
21
Distinct authors in sample
Gene link
ITGA7
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
muscular with integrin alpha-7 deficiency is a rare, genetic, muscular due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis 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:0013177
- MeSH:C567709
- OMIM:613204
- UMLS:C2750786
Additional Mondo synonyms (4)
ITGA7 congenital muscular dystrophy · congenital muscular dystrophy caused by mutation in ITGA7 · congenital muscular dystrophy with ITGA7 deficiency · congenital muscular dystrophy with integrin alpha-7 deficiency
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 — ITGA7
- LiteraturePresent
2 matched papers (2 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; 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 (ITGA7).
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?
2
2 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.
2 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 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
21
Distinct author names in 2 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.
- 01Ceyhan-Birsoy O2 papers · 2017
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
Papers in Europe PMC - 02
- 03Alrowaished SS1 paper · 2019
School of Biology and Ecology, University of Maine, Orono, ME, 04469, USA.
Papers in Europe PMC - 04Bailey EC1 paper · 2019
School of Biology and Ecology, University of Maine, Orono, ME, 04469, USA.
Papers in Europe PMC - 05
- 06Belanger JJ1 paper · 2019
School of Biology and Ecology, University of Maine, Orono, ME, 04469, USA.
Papers in Europe PMC - 07Crooks ES1 paper · 2019
School of Biology and Ecology, University of Maine, Orono, ME, 04469, USA.
Papers in Europe PMC - 08Drinkert DM1 paper · 2019
Molecular and Biomedical Sciences, University of Maine, Orono, ME, 04469, USA.
Papers in Europe PMC - 09
- 10Henry CA1 paper · 2019
School of Biology and Ecology, University of Maine, Orono, ME, 04469, USA. Clarissa.Henry@maine.edu.
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. 1 observational study 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
- NCT05394506·RECRUITING·Modifying Factors in Striated Muscle Laminopathies
Conditions: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Dilated Cardiomyopathy-1A·Matched via name phrase
- NCT05982119·RECRUITING·Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
Conditions: Duchenne Muscular Dystrophy · Fascioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy 1 · Charcot-Marie-Tooth·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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
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.
"Congenital muscular dystrophy with integrin alpha-7 deficiency" OR "Congenital muscular dystrophy with ITGA7 deficiency" OR "ITGA7 congenital muscular dystrophy" OR "congenital muscular dystrophy caused by mutation in ITGA7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital muscular dystrophy with integrin alpha-7 deficiency" OR "Congenital muscular dystrophy with ITGA7 deficiency" OR "ITGA7 congenital muscular dystrophy" OR "congenital muscular dystrophy caused by mutation in ITGA7" OR "ITGA7"
Recall-expansion terms: ITGA7
Study-type breakdown: 0 interventional · 1 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 2026-07-26T23:41:27.625Z