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3. Optimizing human α-galactosidase for treatment of Fabry disease

Author

Hallows, William C., Skvorak, Kristen, Agard, Nick, Kruse, Nikki, Zhang, Xiyun, Zhu, Yu, Botham, Rachel C., Chng, Chinping, Shukla, Charu, Lao, Jessica, Miller, Mathew, Sero, Antoinette, Viduya, Judy, Ismaili, Moulay Hicham Alaoui, McCluskie, Kerryn, Schiffmann, Raphael, Silverman, Adam P., Shen, Jin-Song, and Huisman, Gjalt W.

Published
2023
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5. D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

Author

Schiffmann, Raphael, Mueller, David, McLean, Melissa, Mendez, Mary, Walley, Nicole, Heinzen, Erin, Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad, Prange, Lyndsey, Pratt, Milton, and Herman, Kristin

Abstract

OBJECTIVE: To describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset. METHODS: Review and analysis of clinical and genetic data. RESULTS: Patients shared the above traits and had whole-exome sequencing that showed de novo variants of the ATP1A3 gene, predicted to be disease causing and occurring in regions of the protein critical for pump function. Patient 1 (c.1079C>G, p.Thr360Arg), an 8-year-old girl, presented on day 1 of life with episodic dystonia, complex partial seizures, and facial dysmorphism. MRI of the brain revealed cerebellar hypoplasia. Patient 2 (c.420G>T, p.Gln140His), an 18-year-old man, presented on day 1 of life with hypotonia, tremor, and facial dysmorphism. He later developed dystonia. MRI of the brain revealed cerebellar hypoplasia and, later, further cerebellar volume loss (atrophy). Patient 3 (c.974G>A, Gly325Asp), a 13-year-old girl, presented on day 1 of life with tremor, episodic dystonia, and facial dysmorphism. MRI of the brain showed severe cerebellar hypoplasia. Patient 4 (c.971A>G, p.Glu324Gly), a 14-year-old boy, presented on day 1 of life with tremor, hypotonia, dystonia, nystagmus, facial dysmorphism, and later seizures. MRI of the brain revealed moderate cerebellar hypoplasia. CONCLUSIONS: D-DEMØ represents an ATP1A3-related phenotype, the observation of which should trigger investigation for ATP1A3 mutations. Our findings, and the presence of multiple distinct ATP1A3-related phenotypes, support the possibility that there are differences in the underlying mechanisms.

Published
2020

6. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

Author

Koch, Rebecca L., Soler-Alfonso, Claudia, Kiely, Bridget T., Asai, Akihiro, Smith, Ariana L., Bali, Deeksha S., Kang, Peter B., Landstrom, Andrew P., Akman, H. Orhan, Burrow, T. Andrew, Orthmann-Murphy, Jennifer L., Goldman, Deberah S., Pendyal, Surekha, El-Gharbawy, Areeg H., Austin, Stephanie L., Case, Laura E., Schiffmann, Raphael, Hirano, Michio, and Kishnani, Priya S.

Published
2023
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7. Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa phase III BALANCE study

Author

Warnock, David, Eric, Wallace, Schiffmann, Raphael, Holida, Myrl, Goker-Alpan, Ozlem, Hopkin, Robert, Giraldo, Pilar, Khan, Nedd, Vujkovac, Bojan, Wilcox, William, Linhart, Ales, Tøndel, Camilla, Barshop, Bruce A, Karaa, Amel, Molnar, Maria Judit, Deegan, Patrick, Vockley, Jerry, Rhead, William, Kimonis, Virginia, Chertkoff, Raul, and Longo, Nicola

Subjects
Clinical Sciences, Genetics & Heredity
Published
2019

9. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

Author

Schiffmann, Raphael, Bichet, Daniel G, Jovanovic, Ana, Hughes, Derralynn A, Giugliani, Roberto, Feldt-Rasmussen, Ulla, Shankar, Suma P, Barisoni, Laura, Colvin, Robert B, Jennette, J Charles, Holdbrook, Fred, Mulberg, Andrew, Castelli, Jeffrey P, Skuban, Nina, Barth, Jay A, and Nicholls, Kathleen

Subjects
Rare Diseases, Neurodegenerative, Clinical Research, Brain Disorders, Digestive Diseases, Clinical Trials and Supportive Activities, Emerging Infectious Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, 1-Deoxynojirimycin, Adolescent, Adult, Aged, Biomarkers, Diarrhea, Fabry Disease, Female, Humans, Kidney, Male, Middle Aged, Mutation, Trihexosylceramides, Young Adult, Amenable mutation, Fabry disease, GSRS, Gastrointestinal, Globotriaosylceramide, Lyso-Gb3, Migalastat, Pharmacological chaperone, Other Medical and Health Sciences, Genetics & Heredity
Abstract

BackgroundFabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.MethodsWe evaluated minimal clinically important differences (MCID) in diarrhea based on the corresponding domain of the patient-reported Gastrointestinal Symptom Rating Scale (GSRS) in patients with Fabry disease and amenable mutations (N = 50) treated with migalastat 150 mg every other day or placebo during the phase 3 FACETS trial (NCT00925301).ResultsAfter 6 months, significantly more patients receiving migalastat versus placebo experienced improvement in diarrhea based on a MCID of 0.33 (43% vs 11%; p = .02), including the subset with baseline diarrhea (71% vs 20%; p = .02). A decline in kidney peritubular capillary globotriaosylceramide inclusions correlated with diarrhea improvement; patients with a reduction > 0.1 were 5.6 times more likely to have an improvement in diarrhea than those without (p = .031).ConclusionsMigalastat was associated with a clinically meaningful improvement in diarrhea in patients with Fabry disease and amenable mutations. Reductions in kidney globotriaosylceramide may be a useful surrogate endpoint to predict clinical benefit with migalastat in patients with Fabry disease.Trial registrationNCT00925301 ; June 19, 2009.

Published
2018

10. Expanded phenotype of AARS1-related white matter disease

Author

Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, and Husain, Ralf A.

Published
2021
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14. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Author

Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I, Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S, Liu, Judy, Padiath, Quasar, and Vanderver, Adeline

Subjects
Neurodegenerative, Brain Disorders, Genetics, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Atrophy, Basal Ganglia, Brain, Cataract, Cerebellum, Child, Child, Preschool, Female, HeLa Cells, Hereditary Central Nervous System Demyelinating Diseases, Humans, Leukodystrophy, Metachromatic, Magnetic Resonance Imaging, Male, Microtubules, Middle Aged, Mutation, Myelin Sheath, Neurons, Oligodendroglia, Phenotype, Tubulin, Young Adult, Hela Cells, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). Additionally, TUBB4A mutations are known to result in a broad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with spastic quadriplegia, and an infantile onset encephalopathy, suggesting multiple cell types may be involved. We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). We used a combination of histopathological, biochemical and cellular approaches to determine how these different mutations may have variable cellular effects in neurons and/or oligodendrocytes. Our results demonstrate that specific mutations lead to either purely neuronal, combined neuronal and oligodendrocytic or purely oligodendrocytic defects that closely match their respective clinical phenotypes. Thus, the DYT4 mutation that leads to phenotypes attributable to neuronal dysfunction results in altered neuronal morphology, but with unchanged tubulin quantity and polymerization, with normal oligodendrocyte morphology and myelin gene expression. Conversely, mutations associated with isolated hypomyelination (p.Val255Ile and p.Arg282Pro) and the severe combined phenotype (p.Asn414Lys) resulted in normal neuronal morphology but were associated with altered oligodendrocyte morphology, myelin gene expression, and microtubule dysfunction. The H-ABC mutation (p.Asp249Asn) that exhibits a combined neuronal and myelin phenotype had overlapping cellular defects involving both neuronal and oligodendrocyte cell types in vitro. Only mutations causing hypomyelination phenotypes showed altered microtubule dynamics and acted through a dominant toxic gain of function mechanism. The DYT4 mutation had no impact on microtubule dynamics suggesting a distinct mechanism of action. In summary, the different clinical phenotypes associated with TUBB4A reflect the selective and specific cellular effects of the causative mutations. Cellular specificity of disease pathogenesis is relevant to developing targeted treatments for this disabling condition.

Published
2017

15. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Author

Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai, Norio, Deegan, Patrick, Dimmock, David, Eyskens, François, Germain, Dominique P, Goker-Alpan, Ozlem, Hachulla, Eric, Jovanovic, Ana, Lourenco, Charles M, Narita, Ichiei, Thomas, Mark, Wilcox, William R, Bichet, Daniel G, Schiffmann, Raphael, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Johnson, Franklin, Boudes, Pol, Benjamin, Elfrida R, Lockhart, David J, Barlow, Carrolee, Skuban, Nina, Castelli, Jeffrey P, Barth, Jay, and Feldt-Rasmussen, Ulla

Subjects
Pediatric, Neurodegenerative, Clinical Trials and Supportive Activities, Rare Diseases, Clinical Research, Orphan Drug, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, 1-Deoxynojirimycin, Administration, Oral, Adolescent, Adult, Aged, Enzyme Replacement Therapy, Fabry Disease, Female, Humans, Lysosomes, Male, Middle Aged, Molecular Chaperones, Treatment Outcome, alpha-Galactosidase, Fabry disease, Pharmacological chaperone, enzyme replacement therapy, lyso-Gb3, lysosomal storage disorder, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

BackgroundFabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.MethodsThe main objective of the 18-month, randomised, active-controlled ATTRACT study was to assess the effects of migalastat on renal function in patients with Fabry disease previously treated with ERT. Effects on heart, disease substrate, patient-reported outcomes (PROs) and safety were also assessed.ResultsFifty-seven adults (56% female) receiving ERT (88% had multiorgan disease) were randomised (1.5:1), based on a preliminary cell-based assay of responsiveness to migalastat, to receive 18 months open-label migalastat or remain on ERT. Four patients had non-amenable mutant forms of α-Gal based on the validated cell-based assay conducted after treatment initiation and were excluded from primary efficacy analyses only. Migalastat and ERT had similar effects on renal function. Left ventricular mass index decreased significantly with migalastat treatment (-6.6 g/m2 (-11.0 to -2.2)); there was no significant change with ERT. Predefined renal, cardiac or cerebrovascular events occurred in 29% and 44% of patients in the migalastat and ERT groups, respectively. Plasma globotriaosylsphingosine remained low and stable following the switch from ERT to migalastat. PROs were comparable between groups. Migalastat was generally safe and well tolerated.ConclusionsMigalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry disease and amenable mutations.Trial registration numberNCT00925301; Pre-results.

Published
2017

16. Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease

Author

Pewzner-Jung, Yael, Joseph, Tammar, Blumenreich, Shani, Vardi, Ayelet, Ferreira, Natalia Santos, Cho, Soo Min, Eilam, Raya, Tsoory, Michael, Biton, Inbal E., Brumfeld, Vlad, Haffner-Krausz, Rebecca, Brenner, Ori, Sharabi, Nir, Addadi, Yoseph, Salame, Tomer-Meir, Rotkopf, Ron, Wigoda, Noa, Yayon, Nadav, Merrill Jr., Alfred H., Schiffmann, Raphael, and Futerman, Anthony H.

Published
2021
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20. GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system

Author

Asundi, Jyoti, primary, Zhang, Chunlian, additional, Donnelly‐Roberts, Diana, additional, Solorio, Josè Zavala, additional, Challagundla, Malleswari, additional, Connelly, Caitlin, additional, Boch, Christina, additional, Chen, Jun, additional, Richter, Mario, additional, Maneshi, Mohammad Mehdi, additional, Swensen, Andrew M., additional, Lebon, Lauren, additional, Schiffmann, Raphael, additional, Sanyal, Subhabrata, additional, Sidrauski, Carmela, additional, Kolumam, Ganesh, additional, and Baruch, Amos, additional

Published
2024
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22. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

Author

Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Shankar, Suma P, Schiffmann, Raphael, Chang, Peter, Shen, Yinghua, and Pano, Arian

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Cardiovascular, Pediatric, Clinical Trials and Supportive Activities, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Administration, Intravenous, Adolescent, Child, Enzyme Replacement Therapy, Fabry Disease, Female, Humans, Isoenzymes, Male, Recombinant Proteins, alpha-Galactosidase, Fabry disease, agalsidase alfa, efficacy, enzyme replacement therapy, pediatric study, safety, Pharmacology and Pharmaceutical Sciences, Pharmacology and pharmaceutical sciences
Abstract

BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14 children aged ≥7 years received 0.2 mg/kg agalsidase alfa every other week for 55 weeks. Primary endpoints: safety, changes in autonomic function (2-hour Holter monitoring). Secondary endpoints: estimated glomerular filtration rate, left ventricular mass index (LVMI), midwall fractional shortening, pharmacodynamic parameters, and patient-reported quality-of-life.ResultsAmong five boys (median 10.2 [range 6.7, 14.4] years) and nine girls (14.8 [10.1, 15.9] years), eight patients experienced infusion-related adverse events (vomiting, n=4; nausea, n=3; dyspnea, n=3; chest discomfort, n=2; chills, n=2; dizziness, n=2; headache, n=2). One of these had several hypersensitivity episodes. However, no patient discontinued for safety reasons and no serious adverse events occurred. One boy developed immunoglobulin G (IgG) and neutralizing antidrug antibodies. Overall, no deterioration in cardiac function was observed in seven patients with low/abnormal SDNN (standard deviation of all filtered RR intervals;

Published
2016

24. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Author

Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, and Ikegawa, Shiro

Published
2019
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27. TUBB4A de novo mutations cause isolated hypomyelination

Author

Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J, van der Knaap, Marjo S, Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, and Vanderver, Adeline

Subjects
Pediatric, Congenital Structural Anomalies, Neurosciences, Brain Disorders, Genetics, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Atrophy, Basal Ganglia, Cerebellum, Child, Child, Preschool, Exome, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Phenotype, Registries, Tubulin, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveWe present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.MethodsPatients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.ResultsFive patients who presented with hypomyelination without the classic basal ganglia abnormalities were found to have novel TUBB4A mutations through whole-exome sequencing. Clinical and imaging characteristics were reviewed suggesting a spectrum of clinical manifestations.ConclusionHypomyelinating leukodystrophies remain a diagnostic challenge with a large percentage of unresolved cases. This finding expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. TUBB4A mutation screening should be considered in cases of isolated hypomyelination or hypomyelination with nonspecific cerebellar atrophy.

Published
2014

29. List of contributors

Author

Ah Mew, Nicholas, primary, Akamatsu, Wado, additional, Akman, Hasan Orhan, additional, AlHakeem, Afnan, additional, Aoyama, Koji, additional, Artuch, Rafael, additional, Beck, Michael, additional, Bennett, C. Frank, additional, Berry, Gerard T., additional, Bissell, D. Montgomery, additional, Canine, Brenda, additional, Caskey, C. Thomas, additional, Casy, Widler, additional, Chinnery, Patrick F., additional, Chuang, David T., additional, Cook, Emily K., additional, Cox, Rody P., additional, De Jager, Philip L., additional, Demirbas, Didem, additional, Desnick, Robert J., additional, DiMauro, Salvatore, additional, Eichler, Florian S., additional, Elger, Bernice, additional, Emmanuele, Valentina, additional, Evans, Patricia, additional, Fogel, Brent L., additional, García-Cazorla, Àngels, additional, Gellera, Cinzia, additional, Golla, Sailaja, additional, Goodspeed, Kimberly, additional, Gospe, Sidney M., additional, Gray, Steven J., additional, Gropman, Andrea L., additional, Gu, Yian, additional, Guerrini, Renzo, additional, Gunn, Teresa M., additional, Hadziahmetovic, Una, additional, Haffner, Darrah, additional, Hagerman, R.J., additional, Harel, Tamar, additional, Head, Elizabeth, additional, Horvath, Rita, additional, Hosoi, Yasushi, additional, Hou, Ying-Chen Claire, additional, Hsiao, Jane, additional, Ishiura, Hiroyuki, additional, Jack, Clifford R., additional, Jakkamsetti, Vikram, additional, Johnson†, William G., additional, Jotterand, Fabrice, additional, Kane, John P., additional, Khorkova, Olga, additional, Kinoshita, Chisato, additional, Klompe, Sanne E., additional, Koehl, Lisa M., additional, Kruer, Michael C., additional, Kukull, Walter A., additional, Lane, Roger M., additional, Lee, Joseph H., additional, Leigh, M.J., additional, Ling, Qinglan, additional, Lupski, James R., additional, Luzi, Paola, additional, Ma, Qian, additional, Maegawa, Gustavo H.B., additional, Malloy, Mary J., additional, Margolis, Seth S., additional, Marin-Valencia, Isaac, additional, Mastrianni, James A., additional, Matalon, Dena, additional, Matalon, Reuben, additional, Matalon Rd, Kimberlee Michals, additional, Mathews, Jennifer M., additional, Mayeux, Richard, additional, McCurdy, Jennifer, additional, Meltzer, Meira R., additional, Menkes†, John H., additional, Miron, Justin, additional, Mitsui, Jun, additional, Miyajima, Hiroaki, additional, Monteggia, Lisa M., additional, Morris, Mary Ann, additional, Moser†, Hugo W., additional, Murray, Melissa E., additional, Nakaki, Toshio, additional, Nilsson, Nathalie, additional, Nishino, Ichizo, additional, Nordlie, Sandra M.H., additional, Nussbaum, Robert L., additional, Nyhan, William L., additional, Okano, Hideyuki, additional, Padilla-Lopez, Sergio, additional, Parrini, Elena, additional, Pascual, Juan M., additional, Pastores, Gregory M., additional, Patel, Shailendra B., additional, Patterson, Marc C., additional, Pena, Izabella A., additional, Picard, Cynthia, additional, Poirier, Judes, additional, Posey, Jennifer E., additional, Raymond, Gerald V., additional, Renthal, William, additional, Rosenblatt, David S., additional, Rossignol, Francis, additional, Salen, Gerald, additional, Sandhoff, Konrad, additional, Schiffmann, Raphael, additional, Schindler, Detlev, additional, Schmitt, Frederick A., additional, Schneider, Susanne A., additional, Schon, Eric A., additional, Schuchman, Edward H., additional, Seashore, Margretta Reed, additional, Shaffo, Frances C., additional, Shevell, Michael, additional, Sinnett, Sarah E., additional, Srour, Myriam, additional, Sternberg, Samuel H., additional, Sugie, Kazuma, additional, Szabla, Kristen L., additional, Taroni, Franco, additional, Tedeschi Dauar, Marina, additional, Tsuji, Shoji, additional, Uhlmann, Wendy R., additional, van Karnebeek, Clara, additional, Van Pelt, Kathryn L., additional, Vemuri, Prashanthi, additional, Venditti, Charles P., additional, Wahlestedt, Claes, additional, Wang, Bruce, additional, Watkins, David, additional, Wenger, David A., additional, Williams, Charles A., additional, Wilson, Golder N., additional, Wolf, Barry, additional, Wynn, R. Max, additional, and Yu, Hung-Chun, additional

Published
2020
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30. List of contributors

Author

Artukoglu, Bekir B., primary, Bachoo, Robert M., additional, Baranzini, Sergio E., additional, Benson, Merrill D., additional, Biglan, Kevin, additional, Blakeney, Iona, additional, Bloch, Michael H., additional, Brady, Melanie, additional, Brandsema, John F., additional, Broccolini, Aldobrando, additional, Brown, Robert H., additional, Cohen, Bernard, additional, Cole, Jordan J., additional, Comi, Anne M., additional, Crabbe, John C., additional, Darras, Basil T., additional, Dowling, Michael M., additional, Dunn, Walter, additional, Elroy-Stein, Orna, additional, Elsheikh, Bakri H., additional, Engel, Andrew G., additional, Fahn, Stanley, additional, Fasching, Liana, additional, Fears, Scott C., additional, Felling, Ryan J., additional, Ferner, Rosalie E., additional, Fink, John K., additional, Gillespie, Charles F., additional, Goldman, Alica M., additional, Goldman, Jill, additional, Gutmann, David H., additional, Haltia, Matti, additional, Hauser, Stephen L., additional, Hilbert, James E., additional, Iliopoulos, Othon, additional, Islam, Monica P., additional, Jenkins, Aaron K., additional, Jia, Xiaoming, additional, Jungbluth, Heinz, additional, Kayani, Saima N., additional, Khemani, Pravin, additional, Kirkham, Fenella J., additional, Kirkorian, A. Yasmine, additional, Kissel, John T., additional, Klein, Christine, additional, Kleopa, Kleopas A., additional, Kolb, Stephen J., additional, Konstantakou, Eumorphia, additional, Lambracht-Washington, Doris, additional, Lennington, Jessica B., additional, Lewis, David A., additional, Liang, Wen-Chen, additional, Lidstone, Paven A., additional, Lohmann, Katja, additional, Lombroso, Paul J., additional, Maher, Elizabeth A., additional, Marshall, Frederick, additional, McCann, Meghan, additional, McGarry, Andrew, additional, Meola, Giovanni, additional, Metelo, Ana, additional, Miller, Bruce L., additional, Mirabella, Massimiliano, additional, Mizutani, Shuki, additional, Mole, Sara E., additional, Moxley, Richard T., additional, Muntoni, Francesco, additional, Nemeroff, Charles B., additional, Nishino, Ichizo, additional, Noebels, Jeffrey L., additional, Pandolfo, Massimo, additional, Pevsner, Jonathan, additional, Ptáček, Louis, additional, Ralph, Jeffrey, additional, Renthal, William, additional, Reus, Victor I., additional, Roach, E. Steve, additional, Rosenberg, Roger N., additional, Savarese, Antonia M., additional, Sawyer, Russell P., additional, Scherer, Steven S., additional, Schiffmann, Raphael, additional, Schulz, Angela, additional, Sewry, Caroline, additional, Shakkottai, Vikram G., additional, Shinagawa, Shunichiro, additional, Singh, Pratibha, additional, Sreedharan, Jemeen, additional, Statland, Jeffrey M., additional, Szabo, Steven T., additional, Szuhay, Gabor, additional, Udd, Bjarne, additional, Vaccarino, Flora M., additional, Volk, David W., additional, Wilson, Kathleen S., additional, Xia, Weiming, additional, and Yu, Gang, additional

Published
2020
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33. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Author

Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T., Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée-Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, and Bernard, Geneviève

Published
2018
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36. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

Author

Schiffmann, Raphael, Warnock, David G, Banikazemi, Maryam, Bultas, Jan, Linthorst, Gabor E, Packman, Seymour, Sorensen, Sven Asger, Wilcox, William R, and Desnick, Robert J

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Cardiovascular, Kidney Disease, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Adult, Aged, Cerebrovascular Disorders, Child, Child, Preschool, Disease Progression, Fabry Disease, Female, Heart Diseases, Humans, Kidney Diseases, Male, Middle Aged, Prevalence, Retrospective Studies, Young Adult, albuminuria, arrhythmia, Fabry disease, nephropathy, proteinuria, stroke, Urology & Nephrology, Clinical sciences
Abstract

BackgroundIn Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized.MethodsWe conducted a retrospective chart review of 279 affected males and 168 females from 27 sites (USA, Canada, Europe). The pre-defined study endpoints included progression of renal, cardiac and cerebrovascular involvement and/or death before the initiation of enzyme replacement therapy.ResultsThe mean rate of estimated glomerular filtration rate (eGFR) decline for patients was -2.93 for males, and -1.02 ml/min/1.73 m(2)/year for females. Prevalence and severity of proteinuria, baseline eGFR

Published
2009

38. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

Author

Benjamin, Elfrida R., Della Valle, Maria Cecilia, Wu, Xiaoyang, Katz, Evan, Pruthi, Farhana, Bond, Sarah, Bronfin, Benjamin, Williams, Hadis, Yu, Julie, Bichet, Daniel G., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralynn, Schiffmann, Raphael, Wilcox, William R., Desnick, Robert J., Kirk, John, Barth, Jay, Barlow, Carrolee, Valenzano, Kenneth J., Castelli, Jeff, and Lockhart, David J.

Published
2017
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40. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Author

Bichet, Daniel G., Christensen, Erik Ilsø, Correa-Rotter, Ricardo, Elliott, Perry M., Feriozzi, Sandro, Fogo, Agnes B., Germain, Dominique P., Hollak, Carla E.M., Hopkin, Robert J., Johnson, Jack, Kantola, Ilkka, Kopp, Jeffrey B., Kröner, Jürgen, Linhart, Aleš, Martins, Ana Maria, Matern, Dietrich, Mehta, Atul B., Mignani, Renzo, Najafian, Behzad, Narita, Ichiei, Nicholls, Kathy, Obrador, Greg T., Oliveira, João Paulo, Pisani, Antonio, Politei, Juan, Ramaswami, Uma, Ries, Markus, Terryn, Wim, Tøndel, Camilla, Torra, Roser, Vujkovac, Bojan, Waldek, Stephen, Walter, Jerry, Schiffmann, Raphael, Hughes, Derralynn A., Linthorst, Gabor E., Ortiz, Alberto, Svarstad, Einar, Warnock, David G., West, Michael L., and Wanner, Christoph

Published
2017
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46. Constitutive Achlorhydria in Mucolipidosis Type IV

Author

Schiffmann, Raphael, Dwyer, Nancy K., Lubensky, Irina A., Tsokos, Maria, Sutliff, Vincent E., Latimer, John S., Frei, Karen P., Brady, Roscoe O., Barton, Norman W., Blanchette-Mackie, E. Joan, and Goldin, Ehud

Published
1998

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