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Compositions and methods for the diagnosis and treatment of lymphatic system disorders
US12509729B2 · US · B2
| Field | Value |
|---|---|
| Publication number | US-12509729-B2 |
| Application number | US-202217815647-A |
| Country | US |
| Kind code | B2 |
| Filing date | Jul 28, 2022 |
| Priority date | Aug 31, 2016 |
| Publication date | Dec 30, 2025 |
| Grant date | Dec 30, 2025 |
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- Title
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Abstract
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Compositions and methods for the diagnosis and treatment of lymphatic anomaly are disclosed.
First claim
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What is claimed is: 1 . A method for treating a lymphatic anomaly in a human patient, wherein the patient has a single nucleotide variation (SNV) in ARAF, the method comprising administering an effective amount of an agent selected from one or more mTOR inhibitors, one or more PIK3K inhibitors, one or more MEK/ERK inhibitors, and a combination of any of said agents, thereby treating the lymphatic anomaly, wherein the SNV in ARAF is a mutation of a conserved phosphorylation site in ARAF. 2 . The method of claim 1 , wherein the lymphatic anomaly is characterized by abnormal formation of lymphatic vessels and/or tissue overgrowth. 3 . The method of claim 1 , wherein the lymphatic anomaly is lymphangiomatosis (LAM). 4 . The method of claim 1 , wherein the lymphatic anomaly is generalized lymphatic anomaly (GLA). 5 . The method of claim 1 , wherein the lymphatic anomaly is characterized by chylous effusions, including pericardial, pleural, or peritoneal effusions. 6 . The method of claim 1 , wherein the treatment further comprises administering systemic chemotherapy, interferon alfa, radiotherapy, and/or surgery. 7 . The method of claim 1 , wherein the SNV is associated with a disruption or aberration in PI3K/mTOR signaling pathway. 8 . The method of claim 1 , wherein said one or more agents are selected from the group consisting of rapamycin, everolimus, AZD8055, temsirolimus, KU-0063794, MHY1485, BEZ235, PI-103, torkinib, tacrolimus, selumetinib, PD0325901, trametinib, pimasertib, AZD8330, binimetinib, SL-327, refametinib, cobimetinib, ridaforolimus, INK 128, voxtalisib, torin 1, omipalisib, OSI-027, PF-04691502, apitolisib, GSK1059615, gedatolisib, WYE-354, AZD2014, torin 2, WYE-125123, PP121, WYE-687, CH5132799, WAY-600, ETP-46464, GDC-0349, XL388, zotarolimus, BGT226, palomid 529, chrysophanic acid, TAK-733, and PD184352.
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Polymorphic or mutational markers · CPC title
Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca · CPC title
not condensed and containing further heterocyclic rings, e.g. timolol · CPC title
ortho- or peri-condensed with heterocyclic rings · CPC title
not condensed and containing further heterocyclic rings · CPC title
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- What does patent US12509729B2 cover?
- Compositions and methods for the diagnosis and treatment of lymphatic anomaly are disclosed.
- Who is the assignee on this patent?
- Childrens Hospital Philadelphia, The Childrens Hosptal Of Philadelphia
- What technology area does this patent fall under?
- Primary CPC classification C12Q1/6883. Mapped technology areas include Chemistry & Metallurgy.
- When was this patent published?
- Publication date Tue Dec 30 2025 00:00:00 GMT+0000 (Coordinated Universal Time) (B2). Legal status and post-grant events are not shown on this page.
- What related patents are in patentsdb?
- We list 2 related publications on this page (citations in our corpus or others sharing the same primary CPC).