ORPHA:79087
Acquired partial lipodystrophy
Also known as: Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
407
81.7th percentile
Trials
0
Interventional, condition-specific
Researchers
906
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012104
- MeSH:C562448
- UMLS:C0220989
- NCIT:C129723
Additional Mondo synonyms (4)
APLD · acquired partial lipodystrophy · partial acquired lipodystrophy · progressive cephalothoracic lipodystrophy
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
407 matched papers (245 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; 18 for broader category partial lipodystrophy
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
407
407 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.
407 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).
245 in the last 10 years · medium confidence · 81.7th percentile (publications denominator)
Phrase hits: 407 · MeSH hits: 0
Who's working on it?
906
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.
- 01Araújo-Vilar D15 papers · 2025
Department of Medicine, UETeM, CIMUS School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain.
Papers in Europe PMC - 02
- 03Oral EA12 papers · 2025
Division of Metabolism, Endocrine & Diabetes and Brehm Center for Diabetes Research, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.
Papers in Europe PMC - 04Santini F12 papers · 2025
Obesity Center at the Endocrine Unit, University Hospital of Pisa, Pisa, Italy.
Papers in Europe PMC - 05Brown RJ11 papers · 2025
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 06Ceccarini G11 papers · 2025
Obesity Center at the Endocrine Unit, University Hospital of Pisa, Pisa, Italy. giovanni.ceccarini@unipi.it.
Papers in Europe PMC - 07Garg A11 papers · 2025
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC - 08Corvillo F9 papers · 2024
La Paz University Hospital Research Institute, Madrid, Spain.
Papers in Europe PMC - 09López-Trascasa M8 papers · 2024
La Paz University Hospital Research Institute, Madrid, Spain.
Papers in Europe PMC - 10Wabitsch M7 papers · 2025
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Centre for Rare Endocrine Disorders, Ulm University Medical Centre, Eythstraße 24, 89075, Ulm, Germany.
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). 18 trials are registered for partial lipodystrophy, 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.
medium 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.
18 interventional trials matched partial lipodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: partial lipodystrophy
18
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
- NCT06679270·RECRUITING·Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
Conditions: Familial Partial Lipodystrophy·Matched via name phrase
- NCT07091734·RECRUITING·Tirzepatide for Partial Lipodystrophy Treatment: A New Horizon in 2024
Conditions: Lipodystrophy, Partial·Matched via name phrase
- NCT05470504·RECRUITING·Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance
Conditions: Insulin Receptor Mutation · Partial Lipodystrophy·Matched via name phrase
- NCT06484868·RECRUITING·Open-label Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
Conditions: Partial Lipodystrophy·Matched via name phrase
- NCT07412028·NOT YET RECRUITING·Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
Conditions: Polycystic Ovary Syndrome · Familial Partial Lipodystrophy · LMNA (LaMin Nuclear A) Related Disorders·Matched via name phrase
- NCT03900286·RECRUITING·Low Energy Diet and Familial Partial Lipodystrophy
Conditions: Lipodystrophy · Diabetes · Diet Modification·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.
"Acquired partial lipodystrophy" OR "Barraquer-Simons syndrome" OR "Progressive cephalothoracic lipodystrophy" OR "partial acquired lipodystrophy"
MeSH descriptor terms unioned into the query: Lipodystrophy, Partial, Acquired
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acquired partial lipodystrophy" OR "Barraquer-Simons syndrome" OR "Progressive cephalothoracic lipodystrophy" OR "partial acquired lipodystrophy" OR "Lipodystrophy, Partial, Acquired"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"partial lipodystrophy"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: APLD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:55:21.074Z