TY - JOUR
T1 - Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region
T2 - Consensus recommendations from an expert group
AU - The MENA Pompe Working Group
AU - Al Jasmi, Fatma
AU - Al Jumah, Mohammed
AU - Alqarni, Fatimah
AU - Al-Sanna'a, Nouriya
AU - Al-Sharif, Fawziah
AU - Bohlega, Saeed
AU - Cupler, Edward J.
AU - Fathalla, Waseem
AU - Hamdan, Mohamed A.
AU - Makhseed, Nawal
AU - Nafissi, Shahriar
AU - Nilipour, Yalda
AU - Selim, Laila
AU - Shembesh, Nuri
AU - Sunbul, Rawda
AU - Tonekaboni, Seyed Hassan
N1 - Funding Information:
All authors received honoraria and support to travel to the consensus paper working group meeting at which the consensus recommendations presented in this manuscript were discussed. Dr Nouriya Al-Sanna’a, Dr Fawziah Al-Sharif, Dr Saeed Bohlega, Dr Mohamed Hamdan, Dr Nawal Makhseed, Dr Yalda Nilipour, Dr Nuri Shembesh, Dr Rawda Sunbul, Dr Seyed Hassan Tonekaboni, Dr Shahriar Nafissi, Dr Laila Selim and Dr Fatimah Alqarni have nothing to declare. Dr Edward Cupler reports receiving honoraria and consulting fees from Genzyme and Novartis and research support from Merck Serono. Dr Waseem Fathalla reports receiving consultancy fees from Genzyme, Shire and Biomarin. Dr Fatma Al Jasmi reports receiving honoraria for lectures, board membership, consultancy fees and grants from Genzyme, Shire, BioMarine, Orphan Europe and Sobi. Dr Mohammed Al Jumah reports receiving consultancy fees from Genzyme, Merck Serono, Novartis, Biogen and Bayer.
Funding Information:
Medical writing support in the development of this manuscript was provided by Dr Marcus Corander of Choice Healthcare Solutions, and funded by Genzyme, a Sanofi Company. Genzyme reviewed the manuscript and provided comments for author consideration. The authors would like to thank Dr Dina El-Shafei of Genzyme for her initiation and support of the MENA Working Group that facilitated the process of the guideline manuscript development.
Publisher Copyright:
© 2015 Al Jasmi et al.
PY - 2015/10/15
Y1 - 2015/10/15
N2 - Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.
AB - Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.
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U2 - 10.1186/s12883-015-0412-3
DO - 10.1186/s12883-015-0412-3
M3 - Letter
C2 - 26471939
AN - SCOPUS:84944892796
VL - 15
JO - BMC Neurology
JF - BMC Neurology
SN - 1471-2377
IS - 1
M1 - 205
ER -