RARE DISEASE
Moyamoya disease
Moyamoya disease
Moyamoya disease
Synonyms: Idiopathic Moyamoya disease
Synonyms: Idiopathic Moyamoya disease
Synonyms: Idiopathic Moyamoya disease
Drug discovery
4
drugs
With orphan designations
Overview
Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by bilateral stenosis of the internal carotid arteries and compensatory collateral vessel formation ("puff of smoke" appearance). It causes ischemic strokes in children (58% initial presentation) and hemorrhagic strokes in adults (16-42% presentation), with transient ischemic attacks, seizures, and cognitive decline as common manifestations [1][4][8][12]. Surgical revascularization remains the primary intervention to prevent stroke progression [3][15][17].
Therapies
Direct bypass: Superficial temporal artery-to-middle cerebral artery anastomosis (preferred in adults) [3][11][16]
Indirect revascularization: Pial synangiosis or burr holes (effective in children) [3][9][17]
Medical management: Antiplatelets (aspirin), calcium channel blockers, and seizure control as adjuncts [7][17][18]
Categories: rare genetic diseases, rare neurological diseases
Research Papers
1,998 drug discovery papers about Moyamoya disease, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
1,998 drug discovery papers about Moyamoya disease, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-08-14 | Endovascular treatment of an inaccessible aneurysm in moyamoya‑like vessels using the floating‑coil technique.
In moyamoya disease (MMD), moyamoya‑like vessels develop at the base of the brain. A ruptured aneurysm originating from these vessels is challenging to manage with endovascular treatment (EVT). When direct catheterization is infeasible, parent artery occlusion (PAO) may be the last resort. However, if liquid embolic agents are unsafe due to a short reflux distance, deploying floating coils into the parent artery to occlude or trap the aneurysm offers a viable alternative. This maneuver, termed the "floating‑coil technique," has not been previously described. A 60‑year‑old man with subarachnoid hemorrhage (Hunt-Hess grade II) had MMD and an aneurysm in moyamoya-like vessels arising from the posterior cerebral artery. During EVT, neither the Marathon nor the Echelon‑10 microcatheter could be navigated into the parent artery because of an acute angulation. The floating-coil technique was used: first, an Axium Prime 1 mm × 2 cm coil was pushed out, detached, and floated into the parent artery. Then, 3 Axium Prime 1 mm × 1 cm coils were similarly deployed to occlude the parent artery of the aneurysm. Post‑EVT angiography showed disappearance of the aneurysm and occlusion of moyamoya‑like vessels. The patient had no new deficits and recovered well, with a modified Rankin Scale score of 0 at the 2‑month follow‑up. Thus, the "floating‑coil technique" is a valid choice for inaccessible aneurysms in moyamoya‑like vessels.
2026-08-13 | Computed Tomography Angiography Recognition of a Hemorrhagic Moyamoya Pattern May Alter Acute Blood Pressure Management.
Moyamoya disease (MMD) is a rare progressive cerebrovascular occlusive disorder characterized by stenosis of the terminal internal carotid arteries and the development of fragile lenticulostriate collateral vessels. In adults, MMD can manifest as intracranial hemorrhage (ICH), carrying significant morbidity and a high risk of recurrent bleeding. When hemorrhagic MMD coexists with bilateral large vessel occlusion, acute management becomes exceptionally complex, as the standard imperative to aggressively lower blood pressure following ICH directly conflicts with the hemodynamic requirements of collateral-dependent cerebral perfusion. A 52-year-old Caucasian woman with hypertension and treated hypothyroidism, recently started on aspirin for TIA-like symptoms, presented with acute-onset left hemiplegia and a National Institutes of Health Stroke Scale (NIHSS) score of 11. Hypertension was her sole conventional atherosclerotic risk factor, and thyroid autoantibodies obtained previously had been negative. Non-contrast computed tomography (CT) identified a 2.3 × 1.9 × 2.5 cm right gangliocapsular intraparenchymal hemorrhage with a concurrent small right thalamic hemorrhage. Computed tomography angiography (CTA) demonstrated bilateral M1 segment occlusions with distal M2 reconstitution, a pattern that immediately raised concern for MMD and led directly to the recognition that mechanical thrombectomy was not indicated. The neurosurgical team concurred with a clinical and radiographic diagnosis of moyamoya vasculopathy on hospital day two. Rather than applying standard post-ICH targets, the team individualized blood pressure management to a permissive systolic range of 120 to 160 mmHg, chosen to balance limiting hematoma expansion against preserving collateral-dependent perfusion. Intravenous nicardipine was successfully weaned by hospital day three. The diagnosis was considered probable and imaging-based. Formal cerebral angiography for Suzuki staging and revascularization planning was appropriately deferred during the acute admission and planned on an outpatient basis; the patient was discharged to an inpatient rehabilitation facility on hospital day five but was subsequently lost to follow-up, so digital subtraction angiography (DSA) was never performed. Bilateral M1 occlusion with distal M2 reconstitution on CTA in the setting of gangliocapsular hemorrhage should raise suspicion for MMD and may inform both interventional and hemodynamic decision-making. Recognition of the characteristic CTA pattern supported the decision not to pursue mechanical thrombectomy and prompted individualized blood pressure targets to preserve collateral-dependent cerebral perfusion. Because DSA was not obtained, intracranial atherosclerosis could not be formally excluded, and the diagnosis remains probable rather than definitive.
2026-08-06 | Transarterial embolization of ruptured distal choroidal artery aneurysm in Moyamoya disease: A case series and literature review.
Moyamoya disease (MMD) is characterized by the compensatory development of collateral vasculature. Aneurysm formation on collaterals is common. The rupture of these aneurysms is associated with a poor prognosis, which presents significant treatment challenges. We encountered two cases of distal choroidal artery aneurysm rupture in MMD. The first case experienced re-rupture and underwent superselective embolization. However, this case was complicated by an intraoperative rupture and subsequent hydrocephalus. The second case underwent parent artery occlusion without complications. These cases highlight both efficacy and the risks involved. Lesion accessibility is crucial. A careful evaluation of collaterals and precise planning are required.
2026-08-03 | Ruptured artery of Percheron aneurysm in moyamoya disease with thalamic hemorrhage and acute hydrocephalus: illustrative case.
In moyamoya disease, fragile collateral networks such as periventricular anastomoses are associated with an increased risk of hemorrhage, particularly in the posterior circulation. Peripheral aneurysms arising from these vessels are rare, and those involving the artery of Percheron are exceptionally uncommon. A 55-year-old patient with a history of thalamic hemorrhage presented with headache and impaired consciousness. CT revealed a right thalamic hemorrhage with intraventricular extension and acute hydrocephalus. Emergency ventricular drainage was performed. Subsequent angiography identified a ruptured peripheral aneurysm arising from the artery of Percheron originating from the left P1 segment, along with right-dominant moyamoya vascular architecture. The aneurysm was successfully treated with N-butyl cyanoacrylate embolization to prevent rebleeding. Due to insufficient clearance of intraventricular hematoma, endoscopic evacuation was performed. The patient experienced no rebleeding, and follow-up angiography confirmed durable obliteration of the aneurysm. Peripheral aneurysms arising from the artery of Percheron in moyamoya disease are extremely rare but should be considered in cases of deep hemorrhage with intraventricular extension. Prompt endovascular embolization using liquid embolic agents, combined with endoscopic hematoma evacuation, may provide an effective and minimally invasive treatment strategy. https://thejns.org/doi/10.3171/CASE26356.
2026-07-25 | Integrated Serum Multiomics Reveal Subtype-Specific Immune Dysregulation and Sex-Dimorphic Pathophysiology in Moyamoya Disease.
Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown pathogenesis, partly due to limited access to human cerebral vascular tissue and suitable animal models. Using a large biobank of frozen serum samples, this study aimed to explore molecular signatures of ischemic and hemorrhagic MMD. Serum from 30 patients with MMD (18 ischemic, 12 hemorrhagic) and 30 matched healthy controls underwent proteomic and metabolomic profiling. Data were analyzed for differential expression, pathway enrichment, and protein-metabolite networks, with adjustment for age, sex, and body mass index. In a separate large Chinese cohort (n=6167), female patients had a higher proportion of hemorrhagic MMD (19.9% versus 16.9%) and a higher prevalence of anterior choroidal artery dilation (15.1% versus 13.2%) than male patients (both P<0.05). At the molecular level, ischemic MMD showed complement C4-B deficiency and disrupted natural killer cell cytotoxicity; both subtypes shared immunoglobulin perturbations (eg, decreased heavy-chain variable regions). Sex-specific alterations included anti-folate-binding protein, serum amyloid A2, glycolithocholic acid, and estradiol. All omics data are publicly accessible. Integrated serum multiomics defines distinct immune-related signatures for ischemic and hemorrhagic MMD and reveals sex-dimorphic molecular pathways. These findings, together with clinical sex differences in disease subtype and vascular anatomy, provide a framework for personalized, sex-aware management of MMD.
2026-08-14 | Endovascular treatment of an inaccessible aneurysm in moyamoya‑like vessels using the floating‑coil technique.
In moyamoya disease (MMD), moyamoya‑like vessels develop at the base of the brain. A ruptured aneurysm originating from these vessels is challenging to manage with endovascular treatment (EVT). When direct catheterization is infeasible, parent artery occlusion (PAO) may be the last resort. However, if liquid embolic agents are unsafe due to a short reflux distance, deploying floating coils into the parent artery to occlude or trap the aneurysm offers a viable alternative. This maneuver, termed the "floating‑coil technique," has not been previously described. A 60‑year‑old man with subarachnoid hemorrhage (Hunt-Hess grade II) had MMD and an aneurysm in moyamoya-like vessels arising from the posterior cerebral artery. During EVT, neither the Marathon nor the Echelon‑10 microcatheter could be navigated into the parent artery because of an acute angulation. The floating-coil technique was used: first, an Axium Prime 1 mm × 2 cm coil was pushed out, detached, and floated into the parent artery. Then, 3 Axium Prime 1 mm × 1 cm coils were similarly deployed to occlude the parent artery of the aneurysm. Post‑EVT angiography showed disappearance of the aneurysm and occlusion of moyamoya‑like vessels. The patient had no new deficits and recovered well, with a modified Rankin Scale score of 0 at the 2‑month follow‑up. Thus, the "floating‑coil technique" is a valid choice for inaccessible aneurysms in moyamoya‑like vessels.
2026-08-13 | Computed Tomography Angiography Recognition of a Hemorrhagic Moyamoya Pattern May Alter Acute Blood Pressure Management.
Moyamoya disease (MMD) is a rare progressive cerebrovascular occlusive disorder characterized by stenosis of the terminal internal carotid arteries and the development of fragile lenticulostriate collateral vessels. In adults, MMD can manifest as intracranial hemorrhage (ICH), carrying significant morbidity and a high risk of recurrent bleeding. When hemorrhagic MMD coexists with bilateral large vessel occlusion, acute management becomes exceptionally complex, as the standard imperative to aggressively lower blood pressure following ICH directly conflicts with the hemodynamic requirements of collateral-dependent cerebral perfusion. A 52-year-old Caucasian woman with hypertension and treated hypothyroidism, recently started on aspirin for TIA-like symptoms, presented with acute-onset left hemiplegia and a National Institutes of Health Stroke Scale (NIHSS) score of 11. Hypertension was her sole conventional atherosclerotic risk factor, and thyroid autoantibodies obtained previously had been negative. Non-contrast computed tomography (CT) identified a 2.3 × 1.9 × 2.5 cm right gangliocapsular intraparenchymal hemorrhage with a concurrent small right thalamic hemorrhage. Computed tomography angiography (CTA) demonstrated bilateral M1 segment occlusions with distal M2 reconstitution, a pattern that immediately raised concern for MMD and led directly to the recognition that mechanical thrombectomy was not indicated. The neurosurgical team concurred with a clinical and radiographic diagnosis of moyamoya vasculopathy on hospital day two. Rather than applying standard post-ICH targets, the team individualized blood pressure management to a permissive systolic range of 120 to 160 mmHg, chosen to balance limiting hematoma expansion against preserving collateral-dependent perfusion. Intravenous nicardipine was successfully weaned by hospital day three. The diagnosis was considered probable and imaging-based. Formal cerebral angiography for Suzuki staging and revascularization planning was appropriately deferred during the acute admission and planned on an outpatient basis; the patient was discharged to an inpatient rehabilitation facility on hospital day five but was subsequently lost to follow-up, so digital subtraction angiography (DSA) was never performed. Bilateral M1 occlusion with distal M2 reconstitution on CTA in the setting of gangliocapsular hemorrhage should raise suspicion for MMD and may inform both interventional and hemodynamic decision-making. Recognition of the characteristic CTA pattern supported the decision not to pursue mechanical thrombectomy and prompted individualized blood pressure targets to preserve collateral-dependent cerebral perfusion. Because DSA was not obtained, intracranial atherosclerosis could not be formally excluded, and the diagnosis remains probable rather than definitive.
2026-08-06 | Transarterial embolization of ruptured distal choroidal artery aneurysm in Moyamoya disease: A case series and literature review.
Moyamoya disease (MMD) is characterized by the compensatory development of collateral vasculature. Aneurysm formation on collaterals is common. The rupture of these aneurysms is associated with a poor prognosis, which presents significant treatment challenges. We encountered two cases of distal choroidal artery aneurysm rupture in MMD. The first case experienced re-rupture and underwent superselective embolization. However, this case was complicated by an intraoperative rupture and subsequent hydrocephalus. The second case underwent parent artery occlusion without complications. These cases highlight both efficacy and the risks involved. Lesion accessibility is crucial. A careful evaluation of collaterals and precise planning are required.
2026-08-03 | Ruptured artery of Percheron aneurysm in moyamoya disease with thalamic hemorrhage and acute hydrocephalus: illustrative case.
In moyamoya disease, fragile collateral networks such as periventricular anastomoses are associated with an increased risk of hemorrhage, particularly in the posterior circulation. Peripheral aneurysms arising from these vessels are rare, and those involving the artery of Percheron are exceptionally uncommon. A 55-year-old patient with a history of thalamic hemorrhage presented with headache and impaired consciousness. CT revealed a right thalamic hemorrhage with intraventricular extension and acute hydrocephalus. Emergency ventricular drainage was performed. Subsequent angiography identified a ruptured peripheral aneurysm arising from the artery of Percheron originating from the left P1 segment, along with right-dominant moyamoya vascular architecture. The aneurysm was successfully treated with N-butyl cyanoacrylate embolization to prevent rebleeding. Due to insufficient clearance of intraventricular hematoma, endoscopic evacuation was performed. The patient experienced no rebleeding, and follow-up angiography confirmed durable obliteration of the aneurysm. Peripheral aneurysms arising from the artery of Percheron in moyamoya disease are extremely rare but should be considered in cases of deep hemorrhage with intraventricular extension. Prompt endovascular embolization using liquid embolic agents, combined with endoscopic hematoma evacuation, may provide an effective and minimally invasive treatment strategy. https://thejns.org/doi/10.3171/CASE26356.
2026-07-25 | Integrated Serum Multiomics Reveal Subtype-Specific Immune Dysregulation and Sex-Dimorphic Pathophysiology in Moyamoya Disease.
Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown pathogenesis, partly due to limited access to human cerebral vascular tissue and suitable animal models. Using a large biobank of frozen serum samples, this study aimed to explore molecular signatures of ischemic and hemorrhagic MMD. Serum from 30 patients with MMD (18 ischemic, 12 hemorrhagic) and 30 matched healthy controls underwent proteomic and metabolomic profiling. Data were analyzed for differential expression, pathway enrichment, and protein-metabolite networks, with adjustment for age, sex, and body mass index. In a separate large Chinese cohort (n=6167), female patients had a higher proportion of hemorrhagic MMD (19.9% versus 16.9%) and a higher prevalence of anterior choroidal artery dilation (15.1% versus 13.2%) than male patients (both P<0.05). At the molecular level, ischemic MMD showed complement C4-B deficiency and disrupted natural killer cell cytotoxicity; both subtypes shared immunoglobulin perturbations (eg, decreased heavy-chain variable regions). Sex-specific alterations included anti-folate-binding protein, serum amyloid A2, glycolithocholic acid, and estradiol. All omics data are publicly accessible. Integrated serum multiomics defines distinct immune-related signatures for ischemic and hemorrhagic MMD and reveals sex-dimorphic molecular pathways. These findings, together with clinical sex differences in disease subtype and vascular anatomy, provide a framework for personalized, sex-aware management of MMD.
Access all drug discovery papers and probability of success in trials forecasts:
Access all drug discovery papers and probability of success in trials forecasts:
Drug Discovery Landscape
4 orphan drug designations for Moyamoya disease.
4 orphan drug designations for Moyamoya disease.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Red blood cell-derived microparticles | — | FDA | 2023-02-09 | — | RxMP Therapeutics, Inc. |
Glyburide | — | FDA | 2017-01-12 | — | Remedy Pharmaceuticals, Inc. |
recombinant activated Factor X variant | — | FDA | 2015-03-03 | — | Pfizer, Inc. |
Theranost 68 Ga RGD | oligonucleotides | FDA | 2014-10-01 | — | Advanced Imaging Projects, LLC (AIP) |
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