Literature References for Sanfilippo Syndrome

Page reviewed by: Dr. Cara O’Neill, FAAP

Page last updated: July 29, 2022

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Provided below is a selection of published medical literature on Mucopolysaccharidosis Type III (MPS III, commonly known as Sanfilippo Syndrome). This is not an exhaustive list. You may search PubMed.gov for additional references.

Key

= Human Study = Animal Study = In Vitro Study Only

Patient/Caregiver Disease Burden, Treatment Preferences

• Porter KA, O’Neill C, Drake E, Andrews SM, Delaney K, Parker S, Escolar ML, Montgomery S, Moon W, Worrall C, Peay HL. Caregivers’ assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome. J Patient Rep Outcomes. 2022 Apr 25;6(1):40. doi: 10.1186/s41687-022-00447-w. PMID: 35467223; PMCID: PMC9038975.
• Porter, K.A., O’Neill, C., Drake, E. et al. Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment. Neurol Ther 10, 197–212 (2021). https://doi.org/10.1007/s40120-020-00226-z 
• Shapiro E, Lourenço CM, Mungan NO, Muschol N, O’Neill C, Vijayaraghavan S. Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data. Orphanet J Rare Dis. 2019;14(1):168. doi: 10.1186/s13023-019-1150-1

Diagnosis Data

• Escolar C, Bradshaw J, Byers V, Giugliani R, Golightly L, Lourenco C, McDonald K, Muschol N, Newsome-Davis I, O’Neill C, et. al, 2020, Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. Journal of Inborn Errors of Metabolism & Screening. 2020, Volume 8: e20200002. DOI: 10.1590/2326-4594-JIEMS-2020-0002

Natural History Data

• Wijburg A, Aiach K, Chakrapani A, Eisengart J, Giugliani R, Héron B, Muschol N, O’Neill C, Olivier S, Parker S. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism. 2022;135(2):133-142. doi: 10.1016/j.ymgme.2021.12.002.
• Buhrman D, Thakkar K, Poe M, Escolar ML. Natural history of Sanfilippo syndrome type A. J Inherit Metab Dis. 2014;37(3):431-437. doi: 10.1007/s10545-013-9661-8
• Delgadillo V, O’Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Natural history of Sanfilippo syndrome in Spain. Orphanet J Rare Dis. 2013;8:189. doi: 10.1186/1750-1172-8-189
• Heldermon CD, Henning AK, Ohlemiller KK, Ogilvie JM, Herzog ED, Breidenback A, Vogler C, Wozniak DF, Sands MS. Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. PLoS One. 2007;2(8):e772
• Héron B, Mikaeloff Y, Froissart R, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A. 2011;155A(1):58-68. doi: 10.1002/ajmg.a.33779
• Jansen ACM, Cao H, Kaplan P, et al. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS gene. Arch Neurol. 2007;64(11):1629–1634. doi:10.1001/archneur.64.11.1629
• Lin HY, Chuang CK, Lee CL, et al. Mucopolysaccharidosis III in Taiwan: natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period. Am J Med Genet Part A. 2018;176A:1799–1809. doi:10.1002/ajmg.a.40351
• Malm G, Månsson JE. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30‐year period. Acta Pædiatr. 2010;99(8):1253-1257. doi:10.1111/j.1651-2227.2010.01800.x
  Meyer A, Kossow K, Gal A, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics. 2007;120(5):e1255-e1261. doi: 10.1542/peds.2007-0282
• Ruijter GJ, Valstar MJ, van de Kamp JM, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab. 2008;93(2):104–111. doi: 10.1016/j.ymgme.2007.09.011
• Shapiro E, Ahmed A, Whitley C, Delaney K. Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series. Mol Genet Metab. 2018;123(2):123–126. doi: 10.1016/j.ymgme.2017.11.014
• Shapiro EG, Nestrasil I, Delaney KA, et al. A prospective natural history study of mucopolysaccharidosis type IIIA. J Pediatr. 2016;170:278–87.e874. doi:10.1016/j.jpeds.2015.11.079
• Truxal K, Fu H, McCarty D, et al. A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: implications for clinical trial design. Mol Genet Metab. 2016;119(3):239-248. doi: 10.1016/j.ymgme.2016.08.002
  Valstar MJ, Bruggenwirth HT, Olmer , Wevers RA, Verheijen FW, Poorthuis BJ, Poorthuis BJ, Halley DJ, Wijburg FA. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis. 2010; 33(6): 759–767. doi: 10.1007/s10545-010-9199-y
• Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJG, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol. 2010;68:876–887
• Velasco H, Sanchez Y, Martin A, Umana L. Natural history of Sanfilippo syndrome type C in Boyaca, Colombia: a neurogenetic description. J Child Neurol. 2017;32(2):177-183. doi: 10.1177/0883073816672391
• Whitley CB, Cleary M, Eugen Mengel K, et al. Observational prospective natural history of patients with Sanfilippo syndrome type B. J Pediatr. 2018;197:198-206.e2. doi:10.1016/j.jpeds.2018.01.044 Literature on symptom or system specific disease manifestations (aspects may also be covered in the broader natural history studies above)

Behavioral Disease Manifestations (including Autism)

• Cross EM, Grant S, Jones S, et al. An investigation of the middle and late behavioural phenotypes of mucopolysaccharidosis type-III. J Neurodev Disord. 2014;6(1):46. doi:10.1186/1866-1955-6-46
• Cross EM, Hare DJ. Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders. J Inherit Metab Dis. 2013;36(2):189-200. doi: 10.1007/s10545-012-9572-0
• Potegal M, Yund B, Rudser K, Ahmed A, Delaney K, Nestrasil I, Whitley CB, Shapiro EG. Mucopolysaccharidosis Type IIIA presents as a variant of Kluver-Bucy syndrome. J Clin Exp Neuropsychol. 2013;35(6):608-16. doi:10.1080/13803395.2013.804035
• Rumsey RK, Rudser K, Delaney K, Potegal M, Whitley CB, Shapiro E. Acquired autistic behaviors in children with Mucopolysaccharidosis type IIIA. J Pediatr. 2014;164(5):1147-1151. doi:10.1016/j.jpeds.2014.01.007
• Shapiro EG, Jones SA, Escolar ML. Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations-neurological signs and symptoms. Mol Genet Metab. 2017;122S:1–7. doi: 10.1016/j.ymgme.2017.08.009
• Shapiro E, King K, Ahmed A, Rudser K, Rumsey R, Yund B, Delaney K, Nestrasil I, Whitley C, Potegal M. The neurobehavioral phenotype in mucopolysaccharidosis type IIIB: an exploratory study. Mol Genet Metab Rep. 2016;6:41–47. doi:10.1016/j.ymgmr.2016.01.003
• Shapiro EG, Nestrasil I, Ahmed A, et al. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015;114(4):594–598. doi:10.1016/j.ymgme.2015.02.008
• Wolfenden C, Wittkowski A, Hare DJ. Symptoms of Autism spectrum disorder (ASD) in individuals with mucopolysaccharide disease type III (Sanfilippo syndrome): a systematic review. J Autism Dev Disord. 2017;47(11):3620–3633. doi:10.1007/s10803-017-3262-6

Cardiac Disease Manifestations

• Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-97. doi: 10.1007/s10545-011-9359-8
• Dangel J. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders – clinical and echocardiographic findings in 64 patients. Eur J Pediatr. 1998;157(7):534–538. doi: 10.1007/s004310050872
• Kato R, Miyahara H, Kawano T, Matsuzuka A, Noda K, Izumi T. Heparan sulfate storage in the cardiac conduction system triggers atrioventricular block. Brain Dev. 2017;39(5):418-421. doi: 10.1016/j.braindev.2016.12.008
• Misumi I, Chikazawa S, Takateru I, et al. Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C. Intern Med. 2010;49(21):2313-2316. doi: 10.2169/internalmedicine.49.4210
• Nijmeijer SCM, de Bruin‐Bon RHACM, Wijburg FA, Kuipers IM. Cardiac disease in mucopolysaccharidosis type III. J Inherit Metab Dis. 2019;42(2):276-285. doi:10.1002/jimd.12015
• Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018;124(2):131-134. doi: 10.1016/j.ymgme.2018.04.010

Ear, Nose, Throat (ENT) and Audiologic Disease Manifestations

• Bianchi PM, Gaini R, Vitale S. ENT and mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):127. doi: 10.1186/s13052-018-0555-0
• Gönüldaş B, Yılmaz T, Sivri HS, Güçer KŞ, Kılınç K, Genç GA, Kılıç M, Coşkun T. Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway. Int J Pediatr Otorhinolaryngol. 2014;78(6):944-9. doi: 10.1016/j.ijporl.2014.03.021
• Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG. Airway changes in children with mucopolysaccharidoses. Acta Radiol. 2002;43(1):40-43. doi:10.1034/j.1600-0455.2002.430108.x
• Vargas MF, Vernetta C, Vitoria I, Ibañez-Alcañiz I, Cavallé-Garrido L, Alamar-Velazquez A. Audiological findings in children with mucopolysaccharidoses type I–IV. Acta Otorrinolaringol Esp. 2017;68(5):262-268. doi: 10.1016/j.otoeng.2017.08.006

Endocrinology (incl. Growth) Disease Manifestations

• de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, Visser G, Wijburg FA. Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis. 2014;37(3): 447-454. doi:10.1007/s10545-013-9658-3
• Muschol NM, Pape D, Kossow K, et al. Growth charts for patients with Sanfilippo syndrome (mucopolysaccharidosis type III). Orphanet J Rare Dis. 2019;14(1):93. doi:10.1186/s13023-019-1065-x

Inflammation/Immune Activation in Sanfilippo syndrome

• Parker H, Ellison SM, Holley RJ, O’Leary C, Liao A, Asadi J, Glover E, Ghosh A, Jones S, Wilkinson F, Brough D, Pinteaux E, Boutin H, Bigger B. Haematopoietic stem cell gene therapy with IL-1Ra rescues cognitive loss in mucopolysaccharidosis IIIA. EMBO Mol Med. 2020;12:e11185. doi 10.15252/emmm.201911185

Neurologic (Epilepsy, Movement disorders, etc) Disease Manifestations

• Scarpa M, Lourenço CM, Amartino H. Epilepsy in mucopolysaccharidosis disorders. Mol Genet Metab. 2017;122:55–61. doi: 10.1016/j.ymgme.2017.10.006

Neurocognitive Disease Manifestations (mostly covered in Natural History Data section)

• Valstar MJ, Marchal JP, Grootenhuis M, Colland V, Wijburg FA. Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J Rare Dis. 2011;6(1):43

Orthopedic Disease Manifestations

• de Ruijter J, Maas M, Janssen A, Wijburg FA. High prevalence of femoral head necrosis in mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study. Mol Genet Metab. 2013;109(1):49–53. doi: 10.1016/j.ymgme.2013.03.004
• Rigante D, Caradonna P. Secondary skeletal involvement in Sanfilippo syndrome. QJM. 2004;97(4):205-209. doi: 10.1093/qjmed/hch041
• White KK, Karol LA, White DR, Hale S. Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III). J Pediatr Orthop. 2011;31(5):594–598. doi: 10.1097/BPO.0b013e31821f5ee9

Pain as a Disease Manifestation

• Brands MM, Güngör D, van den Hout JM, et al. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey. J Inherit Metab Dis. 2015;38(2):323–331. doi: 10.1007/s10545-014-9737-0

Retinal/Visual Disease Manifestations

• Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol. 2004;251(4):479-481. doi: 10.1007/s00415-004-0368-5
• Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015;9:1633–1644. doi:10.2147/OPTH.S78368
• Intartaglia D. Giamundo G. Marrocco E, et al Retinal Degeneration in MPS IIIA Mouse Model. Front Cell Dev Biol. 2020;8:132. Published 2020 Mar 4. doi:10.3389/fcell.2020.00132
• Tomatsu S, Pitz S, Hampel U. Ophthalmological findings in Mucopolysaccharisoses. J Clin Med. 2019;8(9):1467. doi: 10.3390/jcm8091467
• Wilkin J, Kerr NC, Byrd KW, Ward JC, Iannaccone A. Characterization of a case of pigmentary retinopathy in Sanfilippo syndrome type IIIA associated with compound heterozygous mutations in the SGSH gene. Ophthalmic Genet. 2016;37(2):217–227. doi: 10.3109/13816810.2015.1028647

Sleep Disturbance as Disease Manifestation

• Colville GA, Watters JP, Yule W, Bax M. Sleep problems in children with Sanfilippo syndrome. Dev Med Child Neurol. 1996;38(06):538-544
• Mahon LV, Lomax M, Grant S. , et al. Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One. 2014;9(02)e84128
• Mariotti P, Marca GD, Iuvone L, Vernacotola S, Ricci R, Mennunl GF, Mazza S. Sleep disorders in Sanfilippo syndrome: a polygraphic study. Clinical Electroencephalography. 2003;34(1):18-22
• Mumford RA, Mahon LV, Jones S, Bigger B, Canal M, Hare DJ. Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome). J Neurodev Disord. 2015;7(1):31. doi: 10.1186/s11689-015-9126-5

Human Treatment Trial Reports

• Tardieu M, Zérah M, Gougeon ML, et al. Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. Lancet Neurol. 2017;16(9):712-720. doi: 10.1016/s1474-4422(17)30169-2
• Whitley CB, Vijay S, Yao B, et al. Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-D-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB. Mol Genet Metab. 2019;126(2):131-138. doi: 10.1016/j.ymgme.2018.12.003
• Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D. Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial. Mol Genet Metab. 2018;126(2):121-130. Doi: 10.1016/j.ymgme.2018.10.006