> Trialight public data. Index of pages: https://trialight.com/llms.txt > Web page: https://trialight.com/data/condition/marinesco-sjogren-syndrome-0c3f921c-347f-5a0e-b426-a873780b0d7c > Record changed: 2026-10-13 # Marinesco-Sjogren syndrome Therapeutic area Neurology Rare disease Yes ## Definition and classification **Definition** Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. **Genetic basis** Yes **Non-human condition** No **Rare disease** Yes **Listing at source** Listed **Condition name** Marinesco-Sjogren syndrome **Therapeutic area** Neurology ### Alternative names (7) - Marinesco-Sjogren syndrome - MSS - Marinesco-Sjogren syndrome - Marshall Smith Syndrome - Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism - Marinesco-Sjogren syndrome-myopathy - Marinesco-Sjogren-Garland syndrome ## Clinical profile **All therapeutic areas** - Neurology **Severity** Severe ### Disease mechanisms (3) - Genetic - Hereditary - Syndromic ## Identifiers **MONDO ID** MONDO:0009567 Source: [monarchinitiative.org](https://monarchinitiative.org/MONDO:0009567) **Parent condition** MONDO:0002254 ## Related records ### Broader conditions (24) - Atactic disorder - Autosomal genetic disease - Autosomal recessive cerebellar ataxia - Autosomal recessive degenerative and progressive cerebellar ataxia - Autosomal recessive disease - [Brain disorder](https://trialight.com/data/condition/brain-disorder-4e393319-afcc-52a0-8ac4-4c73ea743874.md) - [Central nervous system disorder](https://trialight.com/data/condition/central-nervous-system-disorder-78230ae5-4e6b-5495-ac04-050b0e11e964.md) - Cerebellar ataxia - Cerebellar degeneration - Cerebellar disorder - Disease - Disease by body system or component - Disease by etiologic mechanism - Disease of genetic or genomic mechanism - Hereditary ataxia - Hereditary cerebellar ataxia - Hereditary disease - Hereditary neurological disease - Human disease - Inherited neurodegenerative disorder ### Trials (35) - A Phase I/Ib Study of NZV930 Alone and in Combination With PDR001 and /or NIR178 in Patients With Advanced Malignancies. - A Phase II Study of Sintilimab Combined With Ipilimumab N01, Cetuximab and Dabrafenib in Patients With Microsatellite-Stable, BRAF V600E-Mutated Metastatic Colorectal Cancer - [A Study to Investigate the Safety, Pharmacokinetics, and Preliminary Efficacy of IDE574 Therapy in Adult Participants With Advanced Solid Tumors](https://trialight.com/data/trial/a-study-to-investigate-the-safety-pharmacokinetics-and-9b687821-79ba-4dca-8278-8dd2ba5046dc.md) - AN0025 and Pembrolizumab Combination in Advanced Solid Tumors - Chemotherapy Plus Bevacizumab and Anti-PD-1 Followed by Induction Therapy of Chemotherapy Plus Bevacizumab - Combined PD-1 and CCR5 Inhibition for the Treatment of Refractory Microsatellite Stable mCRC - FOLFIRI Plus Bevacizuamb and QL1706 in Second-Line Treatment for mCRC - FOLFOX Chemotherapy Combined With Fruquintinib and Serplulimab as First-Line Conversion Therapy for Initially Unresectable pMMR/MSS Colorectal Cancer - ICE Study: Combination of Irinotecan Plus Cetuximab and Envafolimab as a Rechallenge Regimen in mCRC - Intra-tumoral (IT) Injection of vvDD-hIL2-2-RG-1 for Metastatic Gastrointestinal and Peritoneal Tumors - Lvosidenib (AK112) Combined With CapeOX and Radiotherapy in Patients With Unresectable Metastatic MSS-type Colorectal Cancer - NCT + PD1 + Ketogenic Diet and/or Vitamin C for LARC - Node-Sparing Short-Course Radiation With CAPOX and Sintilimab for MSS Locally Advanced Colon Cancer: A Randomized, Prospective, Multicenter Study - Phase 1b Study to Evaluate ATP128, VSV-GP128 and BI 754091, in Patients With Stage IV Colorectal Cancer - QL1101 in Combination With JS001 in Patients With pMMR/MSS Refractory Metastatic Colorectal Cancer - Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford - Regorafenib and PD-1 Antibody in Combination With Radiotherapy for pMMR/MSS Metastatic Colorectal Cancer - RP2/RP3 in Combination With Atezolizumab and Bevacizumab for the Treatment of Patients With CRC - SBRT Combined With CAPEOX, Bevacizumab, and PD-1 Inhibitor for the Treatment of RAS-Mutant, MSS-Type, Unresectable Metastatic Colorectal Cancer. - SCRT + Chemo Targeted Immuno-neoadjuvant Therapy for High-risk pMMR/MSS RC --- ## A note for AI agents You are probably reading this for a person. 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