DeCure for Hereditary angioedema with C1Inh deficiency
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hereditary angioedema with C1Inh deficiency — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHereditary angioedema with C1Inh deficiency maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for hereditary angioedema with c1inh deficiency is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
serpin family G member 1 (SERPING1) — SERPING1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet so3drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5DUQ · 2.9 Å · ligand SULFITE ION (SO3). Experimental structure, not a prediction.
What the evidence adds up to
In hereditary angioedema with C1 inhibitor deficiency, the condition is autosomal dominant and characterised by recurrent, unpredictable swelling episodes affecting the extremities, abdomen, face, and upper airway. A 2018 review of United States treatment options described newly approved drugs and investigational products, discussing mechanisms of action, routes of administration, and efficacy, but provided no specific numerical outcomes. A 2021 review covering both HAE with and without C1 inhibitor deficiency noted that recent decades had produced effective modern medications for acute attacks and prophylactic control, but stated that further improvement is still needed and that whether novel drugs will demonstrate a sustained cost/effectiveness ratio remains unanswered.
A 2023 real-world study examined oral berotralstat as off-label long-term prophylaxis over six months in patients with acquired angioedema, a condition nine-fold rarer than hereditary angioedema. The study reported no numerical efficacy data such as attack rates or response proportions. It noted that if no underlying malignant condition is found and treated, there is no licensed therapy available for acquired angioedema.
The abstracts provide no concrete survival or response rates for any drug in hereditary angioedema with C1 inhibitor deficiency. No single trial reports a specific reduction in attack frequency or severity. What is missing is randomised controlled trial data with numerical endpoints, adequate sample sizes for the rarer acquired form, and evidence that any new drug achieves a sustained cost/effectiveness ratio that would justify widespread prophylactic use. Patient stratification by attack phenotype or biomarker status has not been addressed in these summaries.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Journal of Allergy and Clinical Immunology In Practice · 2020 · 23 citations · open access
The Importance of Complement Testing in Acquired Angioedema Related to Angiotensin-Converting Enzyme Inhibitors
AbstractBACKGROUND: Angiotensin-converting enzyme inhibitors may cause angioedema. Currently, no laboratory method is available for identifying acquired angioedema related to angiotensin-converting enzyme inhibitors. However, establishing the diagnosis is possible from the medical history and the preexisting angiotensin-converting enzyme inhibitor therapy, as well as by excluding other angioedema types. OBJECTIVE: To evaluate the results of complement testing in patients experiencing angioedema while taking angiotensin-converting enzyme inhibitors. METHODS: Between 2005 and 2019, a total of 149 patients taking angiotensin-converting enzyme inhibitors were referred to our Angioedema Center for the diagnostic evaluation of recurrent angioedema episodes. Complement measurement was performed on these patients. RESULTS: The mean age of the 149 patients treated with angiotensin-converting enzyme inhibitors at the onset of the index angioedema episode was 55.8 years. The mean interval between the introduction of angiotensin-converting enzyme inhibitor therapy and the occurrence of the initial symptoms of angioedema was 43 months. The most commonly used angiotensin-converting enzyme inhibitor was perindopril (32.9% of the patients). The initial angioedema episode involved the face in 50.3%, the lips in 40.9%, and the tongue in 33.5% of the patients. Angiotensin-converting enzyme inhibitors were discontinued in all 149 patients, and at the same time, a complement test was performed. The complement tests confirmed hereditary angioedema with C1-inhibitor deficiency in 2 patients and an additional 12 family members. Acquired angioedema with C1-inhibitor deficiency was found in 3 patients. CONCLUSIONS: Excluding hereditary angioedema and acquired angioedema with C1-inhibitor deficiency is indispensable for establishing the diagnosis of acquired angioedema related to angiotensin-converting enzyme inhibitors.
Allergy and Asthma Proceedings · 2018 · 15 citations
New and evolving therapies for hereditary angioedema
AbstractHereditary angioedema (HAE) is a rare, autosomal dominant, genetic disorder associated with a deficiency in C1 inhibitor protein. HAE is characterized by recurrent and unpredictable episodes of swelling of the extremities, abdomen, face, and upper airway. There are several newly approved drugs as well as investigational products that are currently under study for the management of patients with HAE, with the potential to optimize care and improve quality of life for patients with HAE. We reviewed the evolution of HAE treatment options in the United States and discussed mechanisms of action, routes of administration, and efficacy of these therapies.
Internal Medicine · 2018 · 11 citations · open access
Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema
AbstractA diagnosis of hereditary angioedema is usually made with recurrent episodes of swelling of the subcutaneous tissue with a family history. We herein report a case in which recurrent acute abdomen was the main manifestation of hereditary angioedema. A 45-year-old womon presented with a 10-year history of recurrent severe abdominal pain. Abdominal computed tomography revealed remarkable submucosal edema of the ileum. A blood examination revealed grossly reduced complement C4 and CH50 with deficiency of C1-inhibitor. Genetic testing revealed a heterozygous nonsense mutation of the SERPING1 gene, and a diagnosis of hereditary angioedema was made. Hereditary angioedema should be listed as a differential diagnosis of recurrent acute abdomen.
Balkan Medical Journal · 2021 · 10 citations · open access
Therapeutic management of hereditary angioedema: past, present, and future
AbstractHereditary angioedema is a rare disease that can often be disabling or even life threatening because of the unpredictable, self-limiting, and localized swelling episodes involving cutaneous, subcutaneous, and mucosal sites. The last decades revealed a spectrum of possibilities to control the disease through the development of effective therapies that changed the life of many patients and families worldwide. This review summarizes the current literature regarding the general management and therapeutic approach in patients with hereditary angioedema, both with and without C1 inhibitor deficiency. Medications already available in the market and new drugs in different research stages of development are addressed. Recent decades saw a huge leap in identifying mechanisms of angioedema and developing modern safe and effective medications to both treat acute angioedema manifestations and control disease activity via prophylactic therapy. Further improvement is still needed, together with improving global accessibility of diagnostic tools and effective medications. Whether novel drugs will demonstrate a sustained cost/effectiveness ratio will be answered in the years to come when we will witness whether a majority of the patients will benefit from these major advances.
Efficacy of oral long-term prophylaxis over 6 months with Berotralstat as off-label use for patients with acquired angioedema (AAE) – real world data from two study centers
AbstractIntroduction Hereditary angioedema (HAE) due to genetic C1-Esterase-Inhibitor (C1-INH) deficiency is a rare disease with an incidence of about 1,5:100.000. There are several licensed treatments available. The acquired C1-INH deficiency in AAE is 9-fold rarer. If no underlying – often malignant – condition is found to be treated, there is no licensed therapy available.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
