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Abstract Details

The IPANEMA Study: Top Line Results from an Investigator-Initiated Multi-site Late-onset Pompe Disease Prevalence Study
Neuromuscular and Clinical Neurophysiology (EMG)
P5 - Poster Session 5 (5:30 PM-6:30 PM)
12-005
To determine true prevalence of Late-Onset Pompe disease (LOPD) in patients presenting to academic tertiary geographically disparate neuromuscular centers in the US/Canada using specific selection criteria.

LOPD, an inherited lysosomal storage disease, in which the enzyme acid alpha-glucosidase (GAA) is deficient. It is characterized by proximal limb-girdle pattern muscle weakness and progressive respiratory insufficiency. The disease is progressive, and if left untreated, may result in significant motor disability and respiratory failure. In the U.S. the combined incidence of the disease is 1 in 40,000. However, true prevalence is not known.
This is a multi-site investigator initiated study with UC Irvine as the lead/coordinating site. Consecutive outpatients who presented with symptoms of undiagnosed proximal muscle weakness, neck weakness or elevation of creatinine kinase (CK), were screened for Pompe disease.  Whole blood was sent to Duke Metabolic Disorders laboratory where dried blood spot was done for enzyme assay and DNA extraction. Total recruitment goal was 1,500 subjects across 13 sites.
We present the first set of final results from this study.  Enrollment began in July 2015 and ended July 2018.  Total enrollment was 921 subjects.  The average age was 52 years.  The male/female ratio was 55/45%. Abnomal GAA levels on DBS (≤10 pmol/punch/hr) were seen in 89/921 (9.7%). LOPD was diagnosed in 9/921 (1.0%) subjects (low GAA levels on DBS, confirmed by gene sequencing. Carrier state was seen in 16/921 (1.8%), while 2/921 (0.2%) were classified as likely carriers due to a likely pathogenic variant of uncertain significance and low GAA levels. In 6/921 subjects (0.7%) Pompe testing was undetermined due to a likely benign variant of uncertain significance. In 8/921 (0.9%) mutations consistent with pseudo-deficiency of GAA were seen.

The incidence of Pompe disease discovered by this study in patients with neuromuscular symptoms was 1.0%.  Two novel GAA genes were found. 

Authors/Disclosures
Marie Wencel, CCRP (University of California, Irvine)
PRESENTER 		Ms. Wencel has nothing to disclose.
Namita Goyal, MD, FAAN (University of California, Irvine) Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Annexon. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Abcuro. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Souffle. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for CSL Behring. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Argenx. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Amgen. The institution of Dr. Goyal has received research support from Fulcrum. The institution of Dr. Goyal has received research support from Healey Platform. The institution of Dr. Goyal has received research support from Medicinova. The institution of Dr. Goyal has received research support from Transposon. The institution of Dr. Goyal has received research support from Abcuro. The institution of Dr. Goyal has received research support from Calico. The institution of Dr. Goyal has received research support from Clene. The institution of Dr. Goyal has received research support from Janssen. The institution of Dr. Goyal has received research support from PepGen. The institution of Dr. Goyal has received research support from PTC. The institution of Dr. Goyal has received research support from Roche. The institution of Dr. Goyal has received research support from Sanofi. The institution of Dr. Goyal has received research support from Prilenia. The institution of Dr. Goyal has received research support from RAPA. The institution of Dr. Goyal has received research support from Avidity. Dr. Goyal has received publishing royalties from a publication relating to health care.
Aziz I. Shaibani, MD, FAAN (Houston Neurocare, PA) Dr. Shaibani has nothing to disclose.
Mazen M. Dimachkie, MD, FAAN (University of Kansas Medical Center) Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sanofi. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Octapharma. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for ArgenX. Dr. Dimachkie has received personal compensation in the range of $0-$499 for serving as a Consultant for Catalyst. Dr. Dimachkie has received personal compensation in the range of $0-$499 for serving as a Consultant for Takeda. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medlink. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for CSL Behring. Dr. Dimachkie has received personal compensation in the range of $0-$499 for serving as a Consultant for Astellas. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Janssen. Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Dianthus. Dr. Dimachkie has received personal compensation in the range of $0-$499 for serving as a Consultant for TACT / Treat NMD. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cabaletta Bio. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Clinical Neurological Society of America, Inc . Dr. Dimachkie has received personal compensation in the range of $0-$499 for serving as a Consultant for Ig Society, Inc. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abcuro. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Horizon/Immunovant. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for EMD Serono. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ipsen. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Nuvig. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for 好色先生 (AAN). Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM). Dr. Dimachkie has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Annexon Biosciences. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AstraZeneca. Dr. Dimachkie has received personal compensation in the range of $0-$499 for serving as a Consultant for Candid Therapeutics. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Creyon Bio, Inc.. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Nuvig Therapeutics. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB Biopharma. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharmaceuticals. Dr. Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fortrea. Dr. Dimachkie has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kriya Therapeutics. The institution of Dr. Dimachkie has received research support from NIH. The institution of Dr. Dimachkie has received research support from The Myositis Association. The institution of Dr. Dimachkie has received research support from Biosensics. Dr. Dimachkie has received intellectual property interests from a discovery or technology relating to health care. Dr. Dimachkie has received intellectual property interests from a discovery or technology relating to health care. Dr. Dimachkie has received intellectual property interests from a discovery or technology relating to health care. Dr. Dimachkie has received publishing royalties from a publication relating to health care. Dr. Dimachkie has received publishing royalties from a publication relating to health care.
Nicholas E. Johnson, MD, FAAN (Virginia Commonwealth University) Dr. Johnson has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Rgenta. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Johnson has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Evolyra Therapeutics . Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. Dr. Johnson has stock in Evolyra Therapeutics. The institution of Dr. Johnson has received research support from Novartis. The institution of Dr. Johnson has received research support from Takeda . The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from AskBio. The institution of Dr. Johnson has received research support from Pepgen. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Arthex. The institution of Dr. Johnson has received research support from Avidity Biosciences. The institution of Dr. Johnson has received research support from Edgewise. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.
Jaya Trivedi, MD, FAAN (UT Southwestern Medical Center) The institution of Dr. Trivedi has received research support from Avidity.
Laurie Gutmann, MD, FAAN The institution of Dr. Gutmann has received research support from NIH. The institution of Dr. Gutmann has received research support from Harmony . Dr. Gutmann has received publishing royalties from a publication relating to health care.
Matthew P. Wicklund, MD, FAAN (UT Health San Antonio) Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus Therapeutics. Dr. Wicklund has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi-Genzyme. Dr. Wicklund has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta Therapeutics. Dr. Wicklund has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Spark Therapeutics. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ultragenyx. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vertex Pharmaceuticals. The institution of Dr. Wicklund has received research support from Orphazyme. The institution of Dr. Wicklund has received research support from Muscular Dystrophy Association. The institution of Dr. Wicklund has received research support from Coalition to Cure Calpain 3. The institution of Dr. Wicklund has received research support from Sarepta Therapeutics. The institution of Dr. Wicklund has received research support from ML Bio. The institution of Dr. Wicklund has received research support from Alexion. The institution of Dr. Wicklund has received research support from Acceleron. The institution of Dr. Wicklund has received research support from Edgewise. The institution of Dr. Wicklund has received research support from Fulcrum. The institution of Dr. Wicklund has received research support from Roche-Genentech. The institution of Dr. Wicklund has received research support from Avidity. Dr. Wicklund has received research support from Harmony Bioscience.
Sankar Bandyopadhyay, MD, FAAN (Penn State Hershey Medical Center) Dr. Bandyopadhyay has nothing to disclose.
Angela L. Genge, MD (Mcgill University) Dr. Genge has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for AL-S Pharma. Dr. Genge has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Amylyx. Dr. Genge has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Quralis. Dr. Genge has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MTPA. Dr. Genge has received personal compensation in the range of $0-$499 for serving as a Consultant for WAVE. Dr. Genge has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for eikonizo. Dr. Genge has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for rapa.
Miriam L. Freimer, MD, FAAN (The Ohio State University) Dr. Freimer has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for argenx. Dr. Freimer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for alexion. Dr. Freimer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for J and J. Dr. Freimer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. The institution of Dr. Freimer has received research support from Alnylum. The institution of Dr. Freimer has received research support from UCB. The institution of Dr. Freimer has received research support from NIH. The institution of Dr. Freimer has received research support from Janssen. Dr. Freimer has received research support from Avidity. Dr. Freimer has received research support from Fulcrum. The institution of Dr. Freimer has received research support from Dept of defense. The institution of an immediate family member of Dr. Freimer has received research support from Abcurro. Dr. Freimer has received personal compensation in the range of $10,000-$49,999 for serving as a presentations/teaching with UCB.
Alan Pestronk, MD, FAAN (Washington University in Saint Louis - Neurology) The institution of Dr. Pestronk has received research support from Jain. The institution of Dr. Pestronk has received research support from Fulcrum. The institution of Dr. Pestronk has received research support from Argenyx. The institution of Dr. Pestronk has received research support from NeuroNext.
Julaine M. Florence (Washington University) Ms. Florence has nothing to disclose.
Chafic Y. Karam, MD (University of Pennsylvania) Dr. Karam has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alnylam. Dr. Karam has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi. Dr. Karam has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Annexon. Dr. Karam has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Nuvig. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Applied therapeutics. Dr. Karam has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amgen. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astra Zeneca. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Intellia. Dr. Karam has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Takeda. Dr. Karam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Vertex.
Jeffrey Ralph, MD (UCSF) No disclosure on file
Ali A. Habib, MD (University of California, Irvine) Dr. Habib has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alexion. Dr. Habib has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for argenx. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Immunovant. Dr. Habib has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for UCB. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genentech/Roche. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for NMD Pharma. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Horizon/ Amgen. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Grifols. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Kyverna. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Jansen/Johnson & Johnson. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMDSerono/Merck. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for NIH/NINDS. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Immunis Biomedical. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Hoffman-La Roche. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Habib has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Alexion. Dr. Habib has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for argenx. Dr. Habib has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for UCB. Dr. Habib has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Jansen/Joohnson & Johnson. The institution of Dr. Habib has received research support from Alexion. The institution of Dr. Habib has received research support from Horizon/Amgen. The institution of Dr. Habib has received research support from Immunovant. The institution of Dr. Habib has received research support from UCB. The institution of Dr. Habib has received research support from argenx. The institution of Dr. Habib has received research support from CabalettaBio. The institution of Dr. Habib has received research support from Regeneron. The institution of Dr. Habib has received research support from Arcellx. The institution of Dr. Habib has received research support from Novartis. The institution of Dr. Habib has received research support from EMDSerono/Merck. The institution of Dr. Habib has received research support from Cour Pharmaceuticals.
Tahseen Mozaffar, MD, FAAN (University of California Irvine) Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Argenx. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Amicus. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Grifols. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astellas Gene Therapy. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Bayer. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Applied Therapeutics. The institution of Dr. Mozaffar has received research support from NIH. The institution of Dr. Mozaffar has received research support from Muscular Dystrophy Association. The institution of Dr. Mozaffar has received research support from Sanofi. The institution of Dr. Mozaffar has received research support from Argenx. The institution of Dr. Mozaffar has received research support from Amicus Therapeutics. The institution of Dr. Mozaffar has received research support from Astellas Gene Therpay. The institution of Dr. Mozaffar has received research support from Cartesian. The institution of Dr. Mozaffar has received research support from Cabaletta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.