About INFORM Scientific Network

Jerry Vockley is the Scientific Organizer of INFORM. He is also the Director of the Center for Rare Disease Therapy at the Children's Hospital of Pittsburgh. He is an internationally recognized expert in the field of inborn metabolism errors as well as fatty acid oxidation disorders.

Development of a Patient-Reported Outcome Questionnaire for Patients with Fatty Acid Oxidation Disorders

Development of a Patient-Reported Outcome Questionnaire for Patients with Fatty Acid Oxidation Disorders Presented By: Authors: Susan D. Mathias, MPH 1, Niall O’Donnell, PhD 2, Wendy Newman, MPH 2, Alejandro Dorenbaum, MD 2 1 Health Outcomes Solutions, Winter Park, Florida, USA, 2 Reneo Pharmaceuticals, San [...]

By |2020-02-26T17:27:20+00:00October 10th, 2019|

Interim results from an open-label, long-term extension study to evaluate the safety and efficacy of triheptanoin (UX007) in LC-FAOD

Interim results from an open-label, long-term extension study to evaluate the safety and efficacy of triheptanoin (UX007) in LC-FAOD Presented By: Jerry Vockley, MD, PhD1; Barbara Burton, MD2; Gerard Berry, MD3; Nicola Longo, MD, PhD4; John A. Phillips, MD5; Amarilis Sanchez-Valle, MD6; Kimberly Chapman, MD7; [...]

By |2020-03-26T15:34:04+00:00October 10th, 2019|

CLINICAL AND BIOCHEMICAL OUTCOME OF PATIENTS WITH VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

CLINICAL AND BIOCHEMICAL OUTCOME OF PATIENTS WITH VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Presented By: Valentina Rovelli1,2, MD, Krista Viau1,3, RD, Marzia Pasquali1,4, PhD, Nicola Longo1,4 , MD, PhD 1Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; 2Clinical Department of Pediatrics, University [...]

By |2019-10-10T13:32:05+00:00October 10th, 2019|

Successful orthotopic heart transplantation in CPTII deficiency

Successful orthotopic heart transplantation in CPTII deficiency Presented By: Georgianne L. Arnold, Elizabeth McCracken, Brian Feingold B, Jerry Vockley University of Pittsburgh Medical Center, Pittsburgh, PA USA Corresponding author: Georgianne.arnold4@chp.edu +1 412 692 5070 BACKGROUND: CPTII deficiency has variable presentation with hypoglycemia, rhabdomyolysis, [...]

By |2020-03-26T15:35:10+00:00October 10th, 2019|

A comparative multi-omic study to characterize VLCAD patient response to triheptanoin vs. medium chain triglyceride management

A comparative multi-omic study to characterize VLCAD patient response to triheptanoin vs. medium chain triglyceride management Presented By: Ahmad Alodaib1, 2, Areeg El-Gharbawy1, Yu Leng Phua1, Melanie Gillingham3, Jerry Vockley1, 4 and Steven F. Dobrowolski5 1Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh [...]

By |2020-03-26T15:36:33+00:00October 10th, 2019|

Bioenergetics dysfunction and permeability transition induction triggered by fatty acids accumulated in VLCAD deficiency in a hepatocyte intact system and isolated mitochondria

Bioenergetics dysfunction and permeability transition induction triggered by fatty acids accumulated in VLCAD deficiency in a hepatocyte intact system and isolated mitochondria Presented By: Bianca Seminotti, PhD1,2*, Cristiane Cecatto, MSc1,2, Simone Magagnin Wajner, MD, PhD3, Alexandre Umpierrez Amaral, PhD4, Moacir Wajner, MD, PhD1,2,5 1Departamento de [...]

By |2020-03-26T15:38:05+00:00October 10th, 2019|

Novel genetic discoveries detected using whole exome sequencing and RNA transcriptomics in 14 patients diagnosed with Multiple Acyl-CoA Dehydrogenation Deficiency (MADD)

Novel genetic discoveries detected using whole exome sequencing and RNA transcriptomics in 14 patients diagnosed with Multiple Acyl-CoA Dehydrogenation Deficiency (MADD) Presented By: 1.Signe Mosegaard, MSc, Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark. Email: signe.mosegaard@clin.au.dk Phone: +45 20835507 Co-authors: [...]

By |2019-10-10T13:24:13+00:00October 10th, 2019|

SUMMARY OF 5-YEAR GENE PANEL STUDY FOR TARGET INHERITED METABOLIC DISEASES IN NEWBORN SCREENING – FATTY ACID OXIDATION DEFECTS –

SUMMARY OF 5-YEAR GENE PANEL STUDY FOR TARGET INHERITED METABOLIC DISEASES IN NEWBORN SCREENING - FATTY ACID OXIDATION DEFECTS – Presented By: 1,2Hideo Sasai M.D.,Ph.D., 1Yasuhiko Ago M.D.,1Hideki Matsumoto M.D., 1,2,3Hiroki Otsuka M.D., 4Junichi Hosokawa M.D.,Ph.D., 4Ryoji Fujiki Ph.D., 4Osamu Ohara Ph.D., 5Yoko Nakajima M.D.,Ph.D., [...]

By |2020-03-26T15:40:05+00:00October 10th, 2019|

A neonate with an acute presentation of glutaric aciduria type II with maternal liver disease

A neonate with an acute presentation of glutaric aciduria type II with maternal liver disease Presented By: 1,2Anita, Inwood, BaRN, GradDip, MNP, anita.inwood@health.qld.gov.au, +61415674527 1Talhee Minto, MBBS 3Doug Thomas, MBBS, FRACP 3Haseena Mohamed, MBBS, FRACP 3Lauren Swan, MBBS 1,2David Coman, MBBS, FRACPA, HGSA, MPHIL, FRACP, [...]

By |2019-10-10T13:18:10+00:00October 10th, 2019|

Effect of trimetazidine on oxygen and fatty acid consumptions in very long chain acyl-CoA dehydrogenase deficient cells

Effect of trimetazidine on oxygen and fatty acid consumptions in very long chain acyl-CoA dehydrogenase deficient cells Presented By: Al-Walid Mohsen PhD1,2*, Anuradha Karunanidhi MS1, Yu Leng Phua PhD1, and Jerry Vockley MD, PhD1,2 1Department of Pediatrics and 2Department of Human Genetics, University of Pittsburgh, [...]

By |2019-12-17T14:06:47+00:00October 9th, 2019|