Welcome to the International Pompe Association (IPA)
The American Society of Gene & Cell Therapy, ASGCT, has recently developed a series of user-friendly resources to educate on gene therapy for Pompe disease, including a short animated video and infographic.
The SSIEM (Society for the Study of Inborn Errors of Metabolism) Annual Symposium was held in Rotterdam, the Netherlands, from September 3 to September 6, 2019. This year’s Symposium President was Dr. Ans van der Ploeg.
The symposium abstracts are published on the Journal of Inherited Metabolic Disease, JIMD, and can be found at this link.
Here is a list of the relevant titles for Pompe disease that can be found in the journal at the above link:
Engineered human iPSC-derived skeletal muscles to model Pompe disease
Herrero-Hernandez P, Luliano A, Van Der Wal E, Saggiomo V, Van der Ploeg A T, De Greef J C, Pijnappel W W M
Benefits of higher and more frequent dosing and immunomodulation on long-term outcome in classic infantile Pompe disease
Poelman E, Van den Dorpel J J A, Hoogeveen-Westerveld M, Van der Giessen L J, Van den Hout J M P, Van der Beek N A M, Pijnappel W W M, Van der Ploeg A T
Central nervous system involvement in late-onset Pompe disease: a role for brief cognitive assessment?
Duraes J, Monteiro I R, Lacerda L, Macario M C
Urinary tetrasaccharide is a biomarker for Pompe disease
Saville J T, McDermott B K, Fuller M
Stem cell mediated lentiviral gene therapy corrects central nervous system pathology in a murine model of Pompe disease
Vlaar E C, Catalano F, Liang Q, Pijnenburg J M, Van der Ploeg A T, Pijnappel W W M
Ex-vivo expanded muscle regenerative cells for the treatment of Pompe disease
Canibano-Fraile R, Milazzo C, Van der Ploeg A T, Pijnappel W W M, Schaaf G J
Combined proteomic and lipidomic studies in Pompe disease
Sidorina A, Catesini G, Deodato F, Levi Mortera S, Marzano V, Putignani L, Vernocchi P, Boenzi S, Garibaldi M, Taurisano R, Dionisi-Vici C
Chest MRI to diagnose early diaphragmatic weakness in adult patients with Pompe disease
Harlaar L, Ciet P, Van Tulder G, Pittaro A, Van Kooten H A, Van der Beek N A M, Brusse E, Wielopolski P A, De Bruijne M, Van der Ploeg A T, Tiddens H A W, Van Doorn P A
Severe distal muscle weakness in enzyme-treated classic infantile Pompe patients
Van den Dorpel J J A, Poelman E, Harlaar L, Van Kooten H A, Van der Giessen L J, Van Doorn P A, Van der Ploeg A T, Van den Hout J M P, Van der Beek N A M
Cross-European validity of the Rasch-built Pompe-specific Activity (R-PAct) scale
Van der Beek N, Van Kooten H, Wenninger S, Schoser B, Diaz-Manera J, Laforet P, Brusse E, Merkies I, Van Doorn P, Van der Ploeg A, Pallant J
Discontinuation of enzyme replacement therapy in adults with Pompe disease: evaluating motives and clinical course.
Van Kooten H A, Harlaar L, Van Der Beek N A M, Van Doorn P A, Van Der Ploeg A T, Brusse E
Airway anomalies in infantile-onset pompe disease: a large-scale survey by flexible bronchoscopy.
Yang C F
Efficacy of hyperproteic diet combined with exercise in patients with late-onset Pompe disease
Sechi A, Zuccarelli L, Grassi B, Frangiamore R, De Amicis R, Marorati M, Bacco A, Porcelli S, Bembi B
Long term follow-up of patients diagnosed by Pompe Disease newborn screening
Pascarella A, Gueraldi D, Polo G, Rubert L, Cazzorla C, Giuliani A, Massa P, Burlina A P, Burlina A B
A genetic modifier of symptom onset in Pompe disease
Bergsma A J, In 't Groen S L M, Van den Hout J M P, Van der Beek N A M, Van den Dorpel J J A, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Pasquini E, Tummolo A, Van der Ploeg A T, Pim Pijnappel WWM
Variable effects of enzyme replacement therapy in adults with Pompe disease: 10 years’ follow-up
Harlaar L, Hogrel J Y, Perniconi B, Kruijshaar M E, Rizopoulos D, Taouagh N, Canal A, Brusse E, Van Doorn P A, Laforet P, Van der Beek N A M, Van der Ploeg A T
Urinary Glucose Tetrasaccharide: a useful Prognostic Biomarker for Pompe Disease?
Prunty H, Cleary M, Davison J, Harvey K, Burke D, Guilder L, Odho Z, Heales S
Preclinical development of SPK-3006, an investigational liver-directed AAV gene therapy for the treatment of Pompe disease
Armour S M, Nordin J M L, Costa Verdera H, Cohen D M, Sellier P, Crosariol M, Collaud F, Riling C, Quinn III W J, Hanby H, Cagin U, Puzzo F, Haurigot V, Ronzitti G, Colella P, Anguela X M, Mingozzi F
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity
Nino M Y, In 't Groen S L M, Bergsma A J, De Faria D O S, Van der Beek N A M, Kroos M, Hoogeveen-Westerveld-M, Van der Ploeg A T, Pijnappel W W M
Characteristics of Pompe disease patients with and without the c.-32-13T>G (IVS1) variant: data from the Pompe Registry
Van der Ploeg A T, Mongini T E, Schoser B, Stockton D W, Araujo R, Maruti S S, Abbott M A
Evidence of increased oxidative stress in Pompe disease. A new therapeutic target?
Tarallo A, Damiano C, Minopoli N, Zappa F, Coletta M, Porto C, Strollo S, Baldi R, Monti D M, De Matteis M A, Parenti G
Satellite cells fail to contribute to muscle repair but are functional in Pompe disease
Colle M A, Lagalice L, Pichon J, Gougeon E, Soussi S, Deniaud J, Ledevin M, Maurier V, Leroux I, Durand S, Ciron C, Franzoso F, Dubreil L, Larcher T, Rouger K
Clinical characteristics and molecular genetic analysis of Moroccan patients in infantile-onset Pompe disease
Abilkassem R, Hassani A, Sellouti M, Ourrai A, Kmari M, Agadr A
November 3, 2019, The Straits Times
Rare Disease Fund now covers Pompe disease, a rare inherited neuromuscular disorder
Good news for our friends in Singapore: The Straits Times reports that "citizens can now apply for financial aid to help with their medical expenses for the disease". This is the fourth rare disease covered in Singapore - one of the other diseases is Gaucher disease, like Pompe a lysosomal storage disease.