ORPHA:686999
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
Also known as: PLAAT3-related lipodystrophy syndrome
Clinical definition (Orphanet)
A rare primary lipodystrophy characterized by partial to generalized loss of fat, associated with complications and variable neurological manifestations. Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia.
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.
Is anyone studying this?
1
1 paper 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=183) is 38.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · low confidence
Is a treatment being tested?
19
trials for this specific condition
19 interventional trials matched this specific condition name; 6 currently recruiting in our sample.
Data as of 26 July 2026
19 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 90.4th percentile).
low confidence · 90.4th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (PLAAT3).
GenCC classification: Strong.
Who's working on it?
0
Distinct author names in 1 sampled paper.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
19 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06679270·Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
- NCT07091734·Tirzepatide for Partial Lipodystrophy Treatment: A New Horizon in 2024
- NCT05470504·Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance
- NCT06484868·Open-label Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy
- NCT07412028·Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
- NCT03900286·Low Energy Diet and Familial Partial Lipodystrophy
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
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 below but are not added to the query string.
"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome" OR "PLAAT3-related lipodystrophy syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome" OR "PLAAT3-related lipodystrophy syndrome" OR "PLAAT3" OR "familial partial lipodystrophy" OR "hereditary lipodystrophy" OR "partial lipodystrophy"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 19 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:620683 UMLS:C5882746
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
- Trial count (19) far exceeds publication count (1) — trial matching may still be loose