Partial lipodystrophy

Summary

Partial lipodystrophy (MONDO:0027767) is a disease and 5 clinical trials. Top therapeutic interventions include metreleptin and pegvisomant. A subtype of lipodystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	partial lipodystrophy
Mondo ID	MONDO:0027767
DOID	DOID:0080299
NCIT	C131296
UMLS	C4316789
MedGen	1386287
GARD	0027921
Is cancer (heuristic)	no

Disease family

This is a subtype of lipodystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › lipodystrophy › partial lipodystrophy

Related subtypes (4): localized lipodystrophy, hereditary lipodystrophy, acquired lipodystrophy, generalized lipodystrophy

Subtypes (2): acquired partial lipodystrophy, familial partial lipodystrophy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE4	1
PHASE2/PHASE3	1
PHASE3	1
PHASE2	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06484868	PHASE4	RECRUITING	Open-label Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
NCT05164341	PHASE3	ACTIVE_NOT_RECRUITING	Study to Evaluate the Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects With PL
NCT00896298	PHASE2/PHASE3	COMPLETED	Trial of Leptin Replacement Therapy in Patients With Lipodystrophy
NCT05470504	PHASE2	RECRUITING	Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance
NCT02325674	Not specified	RECRUITING	MEASuRE: Metreleptin Effectiveness And Safety Registry

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
METRELEPTIN	4	3
PEGVISOMANT	4	1