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
1,986 drug discovery papers about Moyamoya disease, with 3 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
1,986 drug discovery papers about Moyamoya disease, with 3 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-09 | Effects of intraoperative inhalational versus intravenous anesthesia on perioperative neurological outcomes and long-term prognosis in patients with moyamoya disease undergoing revascularization surgery: a systematic review and meta-analysis.
Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of intracranial carotid arteries and abnormal collateral network formation. Surgical revascularization is the standard treatment for stroke prevention, but the optimal intraoperative anesthetic strategy to minimize perioperative neurological complications remains controversial. This meta-analysis compares inhalational versus intravenous anesthesia for perioperative neurological outcomes in MMD patients undergoing revascularization. We systematically searched PubMed, Embase, Cochrane Library, and Web of Science from database inception to April 2026, including randomized controlled trials and high-quality observational studies comparing the two anesthesia regimens. Two investigators independently completed literature screening, data extraction, and risk of bias assessment. Random-effects models were applied to pool effect sizes. Primary outcomes included postoperative transient neurological events (TNEs), post-anesthesia care unit (PACU) delirium, and postoperative stroke. Evidence quality was graded using the GRADE system. Eleven studies (1673 patients, 2232 procedures) were included, with 6 studies constituting the core quantitative analysis set. Outcome coverage varied: 5 studies reported TNEs, 2 reported postoperative stroke, and only 1 single-center study reported PACU delirium. Pooled results showed no significant intergroup difference in TNEs (OR = 0.87, 95% CI: 0.55-1.38, P = 0.56, I² = 61%) or postoperative stroke (OR = 1.05, 95% CI: 0.50-2.17, P = 0.91, I² = 0%). Based on limited pediatric data, inhalational anesthesia may be associated with increased PACU delirium risk in children. Qualitative evidence indicated both regimens maintained stable cerebral oxygenation, while propofol-based intravenous anesthesia had advantages in reducing intracranial pressure and improving surgical field exposure. Current low-to-very-low quality evidence shows no significant difference in major perioperative neurological complications between the two anesthetic regimens for MMD revascularization. Intravenous anesthesia has potential advantages in intraoperative cerebral physiology and surgical conditions, and may be considered preferentially for children at high delirium risk, with limited evidence strength. https://www.crd.york.ac.uk/PROSPERO/, identifier CRD420251272930.
2026-07-02 | Clinical and CT perfusion outcomes after direct STA-MCA bypass in moyamoya and non-moyamoya steno-occlusive disease: an Indonesian single-center cohort.
Direct superficial temporal artery-to-middle cerebral artery (STA-MCA) bypass is used for selected haemodynamic cerebrovascular disorders, but comparative data between moyamoya and non-moyamoya disease remain limited in Indonesia. Consecutive patients undergoing direct STA-MCA bypass from 2021 to 2025 were retrospectively analysed. Clinical and operative outcomes were assessed in 68 patients; paired CT perfusion data were available in 41. The cohort included 40 patients with moyamoya disease and 28 with non-moyamoya disease, predominantly intracranial atherosclerotic disease [27/28 (96%)]. Patients with moyamoya were younger [41 (29-49) vs 48 (38-59) years; p = 0.003] and had lower rates of diabetes mellitus [7% vs 29%; p = 0.041] and hypertension [42% vs 86%; p < 0.001]. Bypass patency was documented in 90% versus 100% (p = 0.226). Paired modified Rankin Scale scores improved in both cohorts: from 2.08 ± 1.51 to 1.38 ± 1.39 in moyamoya (mean difference 0.70; p < 0.001) and from 2.82 ± 1.19 to 1.86 ± 1.33 in non-moyamoya disease (mean difference 0.96; p < 0.001). M4 frontal clipping time was longer in moyamoya [33 (31-37) vs 26 (24-32) minutes; p = 0.002]. Postoperative seizure occurred in 15% versus 7% (p = 0.455), and ischaemic stroke in 0% versus 11% (p = 0.065). In the CT perfusion cohort, pre-bypass Tmax was higher in non-moyamoya disease [2.17 (1.25-3.34) vs 1.31 (1.10-1.92); p = 0.048], while infarct volume was higher in moyamoya [8.65 (1.41-17.23) vs 5.63 (3.35-7.32) mL; p = 0.034]. No follow-up CT perfusion parameter differed significantly. Direct STA-MCA bypass was followed by functional improvement in both cohorts and comparable follow-up CT perfusion profiles.
2026-06-27 | Rescue direct bypass after insufficient prior revascularization in moyamoya disease: Feasibility of using reused or preserved superficial temporal artery branches.
To describe the feasibility and short- to mid-term outcomes of rescue direct or combined revascularization using reused or preserved superficial temporal artery branches in patients with moyamoya disease after insufficient prior revascularization. We retrospectively reviewed five patients with moyamoya disease who underwent repeat revascularization for recurrent ischemic or hemorrhagic stroke after prior revascularization. Donor suitability was assessed using digital subtraction angiography to determine whether the previous donor artery had developed effective collateralization and SPECT to identify persistent hemodynamic compromise. Three patients underwent rescue direct bypass using a previously used STA branch that had failed to develop sufficient collateralization. Two patients underwent rescue revascularization using an STA branch that had not been used during the initial operation. All patients underwent successful rescue direct or combined revascularization. Bypass patency was confirmed intraoperatively and postoperatively in all cases. No postoperative ischemic or hemorrhagic complications occurred, and no patient experienced recurrent stroke during follow-up. Rescue direct or combined bypass using reused or preserved STA branches may be feasible in carefully selected patients with recurrent stroke after prior revascularization. Preoperative angiographic confirmation of donor suitability and perfusion imaging are essential for selecting the appropriate rescue strategy.
2026-07-09 | Effects of intraoperative inhalational versus intravenous anesthesia on perioperative neurological outcomes and long-term prognosis in patients with moyamoya disease undergoing revascularization surgery: a systematic review and meta-analysis.
Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of intracranial carotid arteries and abnormal collateral network formation. Surgical revascularization is the standard treatment for stroke prevention, but the optimal intraoperative anesthetic strategy to minimize perioperative neurological complications remains controversial. This meta-analysis compares inhalational versus intravenous anesthesia for perioperative neurological outcomes in MMD patients undergoing revascularization. We systematically searched PubMed, Embase, Cochrane Library, and Web of Science from database inception to April 2026, including randomized controlled trials and high-quality observational studies comparing the two anesthesia regimens. Two investigators independently completed literature screening, data extraction, and risk of bias assessment. Random-effects models were applied to pool effect sizes. Primary outcomes included postoperative transient neurological events (TNEs), post-anesthesia care unit (PACU) delirium, and postoperative stroke. Evidence quality was graded using the GRADE system. Eleven studies (1673 patients, 2232 procedures) were included, with 6 studies constituting the core quantitative analysis set. Outcome coverage varied: 5 studies reported TNEs, 2 reported postoperative stroke, and only 1 single-center study reported PACU delirium. Pooled results showed no significant intergroup difference in TNEs (OR = 0.87, 95% CI: 0.55-1.38, P = 0.56, I² = 61%) or postoperative stroke (OR = 1.05, 95% CI: 0.50-2.17, P = 0.91, I² = 0%). Based on limited pediatric data, inhalational anesthesia may be associated with increased PACU delirium risk in children. Qualitative evidence indicated both regimens maintained stable cerebral oxygenation, while propofol-based intravenous anesthesia had advantages in reducing intracranial pressure and improving surgical field exposure. Current low-to-very-low quality evidence shows no significant difference in major perioperative neurological complications between the two anesthetic regimens for MMD revascularization. Intravenous anesthesia has potential advantages in intraoperative cerebral physiology and surgical conditions, and may be considered preferentially for children at high delirium risk, with limited evidence strength. https://www.crd.york.ac.uk/PROSPERO/, identifier CRD420251272930.
2026-07-02 | Clinical and CT perfusion outcomes after direct STA-MCA bypass in moyamoya and non-moyamoya steno-occlusive disease: an Indonesian single-center cohort.
Direct superficial temporal artery-to-middle cerebral artery (STA-MCA) bypass is used for selected haemodynamic cerebrovascular disorders, but comparative data between moyamoya and non-moyamoya disease remain limited in Indonesia. Consecutive patients undergoing direct STA-MCA bypass from 2021 to 2025 were retrospectively analysed. Clinical and operative outcomes were assessed in 68 patients; paired CT perfusion data were available in 41. The cohort included 40 patients with moyamoya disease and 28 with non-moyamoya disease, predominantly intracranial atherosclerotic disease [27/28 (96%)]. Patients with moyamoya were younger [41 (29-49) vs 48 (38-59) years; p = 0.003] and had lower rates of diabetes mellitus [7% vs 29%; p = 0.041] and hypertension [42% vs 86%; p < 0.001]. Bypass patency was documented in 90% versus 100% (p = 0.226). Paired modified Rankin Scale scores improved in both cohorts: from 2.08 ± 1.51 to 1.38 ± 1.39 in moyamoya (mean difference 0.70; p < 0.001) and from 2.82 ± 1.19 to 1.86 ± 1.33 in non-moyamoya disease (mean difference 0.96; p < 0.001). M4 frontal clipping time was longer in moyamoya [33 (31-37) vs 26 (24-32) minutes; p = 0.002]. Postoperative seizure occurred in 15% versus 7% (p = 0.455), and ischaemic stroke in 0% versus 11% (p = 0.065). In the CT perfusion cohort, pre-bypass Tmax was higher in non-moyamoya disease [2.17 (1.25-3.34) vs 1.31 (1.10-1.92); p = 0.048], while infarct volume was higher in moyamoya [8.65 (1.41-17.23) vs 5.63 (3.35-7.32) mL; p = 0.034]. No follow-up CT perfusion parameter differed significantly. Direct STA-MCA bypass was followed by functional improvement in both cohorts and comparable follow-up CT perfusion profiles.
2026-06-27 | Rescue direct bypass after insufficient prior revascularization in moyamoya disease: Feasibility of using reused or preserved superficial temporal artery branches.
To describe the feasibility and short- to mid-term outcomes of rescue direct or combined revascularization using reused or preserved superficial temporal artery branches in patients with moyamoya disease after insufficient prior revascularization. We retrospectively reviewed five patients with moyamoya disease who underwent repeat revascularization for recurrent ischemic or hemorrhagic stroke after prior revascularization. Donor suitability was assessed using digital subtraction angiography to determine whether the previous donor artery had developed effective collateralization and SPECT to identify persistent hemodynamic compromise. Three patients underwent rescue direct bypass using a previously used STA branch that had failed to develop sufficient collateralization. Two patients underwent rescue revascularization using an STA branch that had not been used during the initial operation. All patients underwent successful rescue direct or combined revascularization. Bypass patency was confirmed intraoperatively and postoperatively in all cases. No postoperative ischemic or hemorrhagic complications occurred, and no patient experienced recurrent stroke during follow-up. Rescue direct or combined bypass using reused or preserved STA branches may be feasible in carefully selected patients with recurrent stroke after prior revascularization. Preoperative angiographic confirmation of donor suitability and perfusion imaging are essential for selecting the appropriate rescue strategy.
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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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