DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for loose anagen syndrome — 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 moduleLoose anagen syndrome 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 loose anagen syndrome 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.
What the evidence adds up to
Loose anagen syndrome is a condition of childhood where anagen hairs are easily and painlessly extracted because of poor adhesion between the hair shaft cuticle and the inner root sheath. A 2002 case report describes a four-year-old girl with patches of hair loss initially diagnosed as trichotillomania. A hair pull test extracted multiple hairs easily and painlessly, and light microscopy was consistent with loose anagen syndrome. Biopsy showed features of trichotillomania, but the child lacked the dexterity to pull out her own hair; the hair loss was attributed to a third person plucking it. The authors concluded that loose anagen syndrome was not the cause of hair loss in that case but acted as a severity factor for trichotillomania by proxy, because the lack of pain on plucking removed the principal deterrent.
A 2003 report describes three children with short stature, macrocephaly, enlarged cerebral spinal fluid spaces, a short neck with redundant skin, severe growth hormone deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder, and a combination of ectodermal abnormalities including darkly pigmented and hairless skin and hair defined as loose anagen hair. Their appearance was not completely typical of Noonan syndrome, and the authors proposed a new syndrome: "Noonan-like syndrome with loose anagen hair."
A 2020 study confirmed three paediatric cases of Noonan-like syndrome with loose anagen hair (OMIM #607721) in China using whole-exome sequencing. All three patients had a de novo heterozygous hotspot mutation in the SHOC2 gene (NM_007373.3, c.4A>G, p.Ser2Gly), which is involved in the RAS-MAPK signalling pathway. Core clinical symptoms included craniofacial anomalies, short stature, weight loss, abnormal hair, growth retardation, and heterogeneous manifestations such as macrocephaly, growth hormone deficiency, congenital heart disease, skin pigmentation, and mental retardation. The authors stated that recombinant human growth hormone treatment was safe and feasible in these patients, but the abstract provides no quantitative data on efficacy, such as height gain or adverse event rates, and no control group is described.
What is still missing is any randomised trial of any treatment for loose anagen syndrome or Noonan-like syndrome with loose anagen hair. The evidence base consists of case reports and small case series. No drug has been tested in a controlled fashion. Patient stratification by genetic mutation is now possible for the SHOC2 variant, but no trial has used that stratification to test a targeted therapy. Funding for natural history studies and for trials of growth hormone or other interventions is lacking.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1984 · 107 citations
The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature
AbstractWe report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome.
American Journal of Medical Genetics Part A · 2003 · 96 citations
Noonan‐like syndrome with loose anagen hair: A new syndrome?
AbstractWe present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair".
Clinical Endoscopy · 2017 · 46 citations · open access
Efficacy of the Over-the-Scope Clip System for Treatment of Gastrointestinal Fistulas, Leaks, and Perforations: A Korean Multi-Center Study
AbstractBACKGROUND/AIMS: Currently, a new over-the-scope clip (OTSC) system has been introduced. This system has been used for gastrointestinal perforations and fistulas in other countries. The aim of our study is to examine the therapeutic success rate of endoscopic treatment using the OTSC system in Korea. METHODS: This was a multicenter prospective study. A total of seven endoscopists at seven centers performed this procedure. RESULTS: A total of 19 patients were included, with gastrointestinal leakages from anastomosis sites, fistulas, or esophageal perforations due to Boerhaave's syndrome. Among these, there were three gastrojejunostomy sites, three esophagojejunostomy sites, four esophagogastrostomy sites, one esophagocolonostomy site, one jejuno-jejunal site, two endoscopic full thickness resection site closures, one Boerhaave's syndrome, two esophago-bronchial fistulas, one gastrocolonic fistula, and one colonopseudocyst fistula. The size of the leakage ranged from 5 to 30 mm. The median procedure time was 16 min. All cases were technically successful. Complete closure of the leak was achieved in 14 of 19 patients using OTSC alone. CONCLUSIONS: The OTSC system is a safe and effective method for the management of gastrointestinal leakage, especially in cases of anastomotic leakage after surgery.
Advances in Therapy · 2023 · 28 citations · open access
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice
AbstractINTRODUCTION: Vosoritide is the first precision medical therapy approved to increase growth velocity in children with achondroplasia. Sharing early prescribing experiences across different regions could provide a framework for developing practical guidance for the real-world use of vosoritide. METHODS: Two meetings were held to gather insight and early experience from experts in Europe, the Middle East, and the USA. The group comprised geneticists, pediatric endocrinologists, pediatricians, and orthopedic surgeons. Current practices and considerations for vosoritide were discussed, including administration practicalities, assessments, and how to manage expectations. RESULTS: A crucial step in the management of achondroplasia is to determine if adequate multidisciplinary support is in place. Training for families is essential, including practical information on administration of vosoritide, and how to recognize and manage injection-site reactions. Advocated techniques include establishing a routine, empowering patients by allowing them to choose injection sites, and managing pain. Patients may discontinue vosoritide if they cannot tolerate daily injections or are invited to participate in a clinical trial. Clinicians in Europe and the Middle East emphasized the importance of assessing adherence to daily injections, as non-adherence may impact response and reimbursement. Protocols for monitoring patients receiving vosoritide may be influenced by regional differences in reimbursement and healthcare systems. Core assessments may include pubertal staging, anthropometry, radiography to confirm open physes, the review of adverse events, and discussion of concomitant or new medications-but timing of these assessments may also differ regionally and vary across institutions. Patients and families should be informed that response to vosoritide can vary in both magnitude and timing. Keeping families informed regarding vosoritide clinical trial data is encouraged. CONCLUSION: The early real-world experience with vosoritide is generally positive. Sharing these insights is important to increase understanding of the practicalities of treatment with vosoritide in the clinical setting.
British Journal of Dermatology · 2002 · 10 citations
Loose anagen syndrome as a severity factor for trichotillomania
AbstractLoose anagen syndrome (LAS) is a condition of childhood where anagen hairs are easily and painlessly extracted. The condition is due to poor adhesion between the cuticle of the hair shaft and the inner root sheath. A 4-year-old girl presented with patches of hair loss and a clinical diagnosis of trichotillomania was made. A hair pull test extracted multiple hairs easily and painlessly. Light microscopic examination was consistent with LAS. A biopsy was performed, which showed features of trichotillomania. However, on request the child did not display sufficient dexterity to pull out her own hair. It was subsequently determined that her hair loss was likely to be due to a third person plucking out her hair. It appears that in this case the LAS was not the cause of her hair loss, but rather acted as a severity factor for trichotillomania by proxy in that the lack of pain on plucking the hairs removed the principle deterrent.
Research Square (Research Square) · 2020 · 0 citations · open access
Core clinical symptoms and heterogeneous manifestations of NS / LAH: three case reports and review of the literature
AbstractAbstract Background Noonan-like syndrome with loose anagen hair-a rare autosomal dominant disease with very clinical heterogeneity, is difficult to make clinical diagnosis in the earlier period. We identified the cause of disease with severely short stature by WES on three pediatric cases. Meanwhile, we summarized the clinical manifestations of these three patients and reviewed the literature of the syndrome. Case presentations We finally confirmed three cases of Noonan-like syndrome with loose anagen hair (NS / LAH) (OMIM # 607721) and hotspot mutation in SHOC2 gene (OMIM# 602775), which both involved in the RAS-MAPK signaling pathway. The mutation located in chr10: 112724120, NM_007373.3, c.4A>G (p.Ser2Gly) is de-novo heterozygous in all patients. NS / LAH show some core clinical symptoms, such as craniofacial anomalies, short stature, weight loss, abnormal hair, growth retardation and heterogeneous manifestations (macrocephaly, GH deficiency, congenital heart disease, skin pigmentation, mental retardation, etc.). In the study, we have also proved that it is safe and feasible to apply rhGH treatent on Noonan-like syndrome with loose anagen hair. Conclusions Through our effort, we have identified a rare disease in China. The molecular characteristics, clinical manifestations, and therapeutic measure were summarized so that it can help to clinicians a better understanding of the disease and offer patients effective and timely assistance.
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.
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