Small Molecule Therapy for Genetic Disease
Jess G Thoene
Small Molecule Therapy for Genetic Disease - 1st ed. - New York : Cambridge University Press, 2010. - xiii, 223 p.,
Cover --
Half-Title --
Title --
Copyright --
Contents --
Contributors --
Preface --
Acknowledgments --
References --
Section I: Infrastructure --
1 The U.S. Food and Drug Administration and the Regulation of Small Molecules for Orphan Diseases --
The Orphan Drug Act --
What Are The Orphan Drug Incentives? --
How Does A Sponsor Seek And Obtain Orphan Drug Designation? --
What Is A Medically Plausible Subset? --
How Does The Fda Protect The Marketing Exclusivity Of The Pioneer Drug? --
Overview Of Nonbiological Orphan Drugs Approved For Genetic Disorders --
How Has The Fda Approved Nonbiological Orphan Drugs For Genetic Disorders? --
Conclusions --
Notes --
2 The Office of Rare Diseases Research: Serving a Coordinating Function At the National Institutes of Health --
Introduction --
Coordinated Efforts For Successful Rare Diseases Research And Orphan Products Development --
Scientific Conferences, Workshops, And Meetings --
Genetic Test8211;Development Program --
Undiagnosed Diseases Program --
Collaborative Research Efforts --
Rare Diseases Clinical Research Network --
Nih Emphasis On Pags As Collaborators --
The Genetic And Rare Diseases Information Center --
Gaining Access To Research Discoveries --
The Nih Roadmap For Medical Research And Other Significant Nih Research Initiatives --
Molecular Libraries Initiative --
The Raid Program --
Therapeutics For Rare And Neglected Diseases Program --
Conclusion --
References --
3 Introduction to Pharmacokinetics and Pharmacodynamics --
Introduction --
General Principles Of Pharmacokinetics --
Drug-Dosing Regimen 8211; Dependent Kinetics --
General Principles Of Pharmacodynamics --
Clinical Drug Development --
Clinical Approach --
References --
Section II: Cofactors --
4 Biotin and Biotin-Responsive Disorders --
Overview Of The Biotin Cycle And Biotin-Responsive Disorders --
Overview Of Biotin --
Results Of Biotin Therapy --
Future Developments --
References --
5 Cobalamin Treatment of Methylmalonic Acidemias --
Clinical Characteristics Of Methylmalonic Acidemias --
Cobalamin --
Therapeutic Results --
Future Developments --
References --
6 Sapropterin Treatment of Phenylketonuria --
Natural History Of Phenylketonuria --
Sapropterin Dihydrochloride --
Results Of Therapy --
Future Developments --
References --
7 L-Carnitine Therapy in Primary and Secondary Carnitine Deficiency Disorders --
Introduction --
Primary Carnitine Deficiency --
Carnitine Deficiency Secondary To Inborn Errors Of Metabolism --
References --
Section III: Utilization of Alternative Pathways --
8 Cysteamine Treatment of Nephropathic Cystinosis --
Natural History Of Nephropathic Cystinosis --
Pathophysiology --
Inheritance --
Cysteamine --
Mechanism Of Action --
Dosage --
Side Effects --
U.S. Food And Drug Administration Status --
Results Of Therapy --
Future Developments --
References --
9 Nitisinone Use in Hereditary Tyrosinemia and Alkaptonuria --
Overview Of Diseases --
Overview Of Nitisinone --
Results O.
"This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are discrete, often of natural origin, and provide predictable therapeutic responses. As such, they avoid many of the practical difficulties associated with gene and protein therapies. This handbook will enable interested clinician scientists and others to rapidly survey the field, thus ascertaining what has been done and as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. These chapters focus on an introduction to pharmacokinetics and pharmacodynamics, a description of the FDA Office of Orphan Products, and a summary of the operation of the National Institutes of Health Office of Rare Diseases. The remainder of the book is devoted to a review of small molecule therapy for genetic diseases. The book closely analyzes the cofactors used to augment the function of defective enzymes and the compounds that are able to utilize an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis"--Provided by publisher.
9780521517812
Metabolism, Inborn errors of -- Chemotherapy -- Handbooks, manuals, etc.
Small Molecule Libraries -- therapeutic use. MEDICAL -- Endocrinology & Metabolism. MEDICAL -- Nutrition.
Genetic Diseases, Inborn -- drug therapy.
Orphan Drug Production. Rare Diseases -- drug therapy.
Genetic disorders -- Chemotherapy -- Handbooks, manuals, etc.
Metabolism, Inborn errors of -- Gene therapy -- Handbooks, manuals, etc.
616.390 / THO
Small Molecule Therapy for Genetic Disease - 1st ed. - New York : Cambridge University Press, 2010. - xiii, 223 p.,
Cover --
Half-Title --
Title --
Copyright --
Contents --
Contributors --
Preface --
Acknowledgments --
References --
Section I: Infrastructure --
1 The U.S. Food and Drug Administration and the Regulation of Small Molecules for Orphan Diseases --
The Orphan Drug Act --
What Are The Orphan Drug Incentives? --
How Does A Sponsor Seek And Obtain Orphan Drug Designation? --
What Is A Medically Plausible Subset? --
How Does The Fda Protect The Marketing Exclusivity Of The Pioneer Drug? --
Overview Of Nonbiological Orphan Drugs Approved For Genetic Disorders --
How Has The Fda Approved Nonbiological Orphan Drugs For Genetic Disorders? --
Conclusions --
Notes --
2 The Office of Rare Diseases Research: Serving a Coordinating Function At the National Institutes of Health --
Introduction --
Coordinated Efforts For Successful Rare Diseases Research And Orphan Products Development --
Scientific Conferences, Workshops, And Meetings --
Genetic Test8211;Development Program --
Undiagnosed Diseases Program --
Collaborative Research Efforts --
Rare Diseases Clinical Research Network --
Nih Emphasis On Pags As Collaborators --
The Genetic And Rare Diseases Information Center --
Gaining Access To Research Discoveries --
The Nih Roadmap For Medical Research And Other Significant Nih Research Initiatives --
Molecular Libraries Initiative --
The Raid Program --
Therapeutics For Rare And Neglected Diseases Program --
Conclusion --
References --
3 Introduction to Pharmacokinetics and Pharmacodynamics --
Introduction --
General Principles Of Pharmacokinetics --
Drug-Dosing Regimen 8211; Dependent Kinetics --
General Principles Of Pharmacodynamics --
Clinical Drug Development --
Clinical Approach --
References --
Section II: Cofactors --
4 Biotin and Biotin-Responsive Disorders --
Overview Of The Biotin Cycle And Biotin-Responsive Disorders --
Overview Of Biotin --
Results Of Biotin Therapy --
Future Developments --
References --
5 Cobalamin Treatment of Methylmalonic Acidemias --
Clinical Characteristics Of Methylmalonic Acidemias --
Cobalamin --
Therapeutic Results --
Future Developments --
References --
6 Sapropterin Treatment of Phenylketonuria --
Natural History Of Phenylketonuria --
Sapropterin Dihydrochloride --
Results Of Therapy --
Future Developments --
References --
7 L-Carnitine Therapy in Primary and Secondary Carnitine Deficiency Disorders --
Introduction --
Primary Carnitine Deficiency --
Carnitine Deficiency Secondary To Inborn Errors Of Metabolism --
References --
Section III: Utilization of Alternative Pathways --
8 Cysteamine Treatment of Nephropathic Cystinosis --
Natural History Of Nephropathic Cystinosis --
Pathophysiology --
Inheritance --
Cysteamine --
Mechanism Of Action --
Dosage --
Side Effects --
U.S. Food And Drug Administration Status --
Results Of Therapy --
Future Developments --
References --
9 Nitisinone Use in Hereditary Tyrosinemia and Alkaptonuria --
Overview Of Diseases --
Overview Of Nitisinone --
Results O.
"This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are discrete, often of natural origin, and provide predictable therapeutic responses. As such, they avoid many of the practical difficulties associated with gene and protein therapies. This handbook will enable interested clinician scientists and others to rapidly survey the field, thus ascertaining what has been done and as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. These chapters focus on an introduction to pharmacokinetics and pharmacodynamics, a description of the FDA Office of Orphan Products, and a summary of the operation of the National Institutes of Health Office of Rare Diseases. The remainder of the book is devoted to a review of small molecule therapy for genetic diseases. The book closely analyzes the cofactors used to augment the function of defective enzymes and the compounds that are able to utilize an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis"--Provided by publisher.
9780521517812
Metabolism, Inborn errors of -- Chemotherapy -- Handbooks, manuals, etc.
Small Molecule Libraries -- therapeutic use. MEDICAL -- Endocrinology & Metabolism. MEDICAL -- Nutrition.
Genetic Diseases, Inborn -- drug therapy.
Orphan Drug Production. Rare Diseases -- drug therapy.
Genetic disorders -- Chemotherapy -- Handbooks, manuals, etc.
Metabolism, Inborn errors of -- Gene therapy -- Handbooks, manuals, etc.
616.390 / THO