Rare Diseases and Orphan Products Accelerating Research and Development (2010) / Chapter Skim
Currently Skimming:
Index
Index
Pages 395-420
The Chapter Skim interface presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter.
Select key terms on the right to highlight them within pages of the chapter.
From page 395... ...
369 advocacy group approaches, 371-386 Adenoid cystic carcinoma, 369 barriers to, 18 Adenosine deaminase deficiency, 300 n.20 biomarkers as surrogate endpoints and, Advanced Medical Technology Association, 8 237-238 opportunities for, 6-7 Advanced Research Collaboration model, patient registries and, 8 127, 141, 371 task force on, 14, 242, 247-248 Advancing Regulatory Science Initiative, Access to orphan drugs (see also Coverage 102, 103 and reimbursement) Advocacy groups (see also specific groups)
|
From page 396... ...
, 57-58, 114 Aortic aneurysm, 113, 118, 129, 162 American College of Physicians, 68 Aplastic anemias, 51 American Heart Association, 384 Approval process for orphan drugs and American Institute for Medical and biologics (see also Center for Biological Engineering, 230 Drug Evaluation and Research; American Partnership for Eosinophilic Investigational New Drug) Disorders, 287 accelerated approval, 80, 81, 82, 87, 97, American Recovery and Reinvestment Act, 156, 157 131, 132 access to clinical data supporting/ American Society of Health-System denying approvals, 83-84, 98, 164 Pharmacists, 199 n.10 165, 166-167 American Society of Hematology, 66-67 basics of, 75-77 Aminoglycoside-induced deafness, 368 defined, 346 Aminolevulinate dehydratase deficiency evidence of safety and efficacy accepted porphyria, 368 by FDA, 4, 76-77, 95-98 Amyloidosis, 131 fast track, 80, 81, 87 Amyotrophic lateral sclerosis (ALS)
|
From page 397... ...
Autism, 49 Bioinformatics, 117-118, 124, 135, 136, Autoimmune autonomic neuropathy, 365 141, 231, 346, 360 Autonomic Rare Diseases Clinical Research Biologics/biological products Consortium, 365 carcinogenicity studies, 150 Autosomal dominant disorders, 35, 55 n.12, coverage and reimbursement, 181, 183, 346 187, 188, 189, 192 n.9, 315, 325, Autosomal recessive disorders, 96, 346 326, 327, 328, 329, 330, 331 definition, 36, 78, 149-150, 346-347 discovery methods, 120-122 B examples, 78 generic, 181, 301 Bacterial corneal ulcers, 325 immune response, 151, 152 Balamuthia mandrillaris, 53 opportunities and obstacles, 121 Balanced Budget Act of 1997, 311 preclinical studies, 149-150, 151, 152 Baroreflex failure, 365 priority review, 82 Basic research (see also Target discovery) protein replacement therapy, 63, 121 access to biological specimens, 159, 243 regulation, 77 n.2, 78, 107, 210, 214 alpha-1 antitrypsin deficiency agenda, n.9 376 trends in approvals, 92-93, 300, 301 centers for, 66 wild-type protein, 152 collaborations and partnerships, 284 Biologics License Application (BLA)
|
From page 398... ...
, 302 n.27, 304 n.32 recommendations for effective evaluation Carbamylphosphate synthetase deficiency, of, 158 325, 369 signature molecule, 358 Carcinogenicity studies, 150-151 standards for validation and application, Carglumic acid (Carbaglu) , 96, 150 174 Carnitine deficiency, 323 substudy protocol, 175 Causes of rare diseases as surrogate endpoints, 8, 21, 156, 157 fetal exposures, 56-57 158, 166-167, 174, 359, 364 genetic, 1, 16, 20, 22, 41, 51, 52-53 of therapeutic response, 161, 166 infectious agents, 1, 16, 41, 51, 53-54 uses, 157 injuries, 55 validation inadequacies, 4, 8, 99, 174 nutritional deficiencies, 55 Biomarkers Consortium, 157-158, 167, 174 toxic agents, 1, 16, 41, 51, 54 Biorepositories, 6, 8, 22, 45, 125, 129-130, treatment related to another disease, 1, 143, 144, 159, 160, 161, 170, 175, 41, 51, 55 242, 284, 347, 375 Celiac disease, 119 Biotin, 17, 119 Cell (see also Stem cell therapy)
|
From page 399... ...
, 369 n.4, 369 Clinical and Translational Science Awards, Chagas disease, 31, 142 9, 163 n.2, 170-171, 176 Charcot-Marie-Tooth disease, 366 Clinical Data Interchange Standards Charge to committee, 2-3 Consortium, 156 Chemical compound libraries Clinical endpoints, 166, 347 (see also defined, 349 Surrogate endpoints) high-throughput screening, 119-120, Clinical Laboratory Improvement 139, 171-172, 352-353 Amendments of 1988, 213 sharing, 6, 7, 13, 138, 141-142, 143, Clinical phenotype, 123, 347 144 Clinical research (see also Clinical trials)
|
From page 400... ...
, 37, 97 innovative designs and data analysis Columbia University Medical Center Spinal strategies, 5, 163-164, 175 Muscular Atrophy Clinical Research insurance coverage, 183, 185, 200-201 Center, 382 international harmonization of, 29 Combination products, 74, 94, 102, 214 negative FDA findings, 83-84, 164-165, 215, 219-220, 236, 299, 348 166-167, 177 Combined immunodeficiency, 35, 121, 123, no treatment concurrent control, 77, 356 300 n.20, 369 noninferiority, 77, 356 Commission for the Control of number required by FDA, 76, 95, 155 Huntington's Disease and Its patient registries and, 159, 161 Consequences, 23, 24 pediatric studies, 82, 89 Committee of the Public Health Service, 24 phase I (safety) , 39, 81, 82, 94, 96, 99, Committee to Combat Huntington's 148, 150, 152-154, 297, 298, 305, Disease, 29 307, 308, 348, 384 Commotio cordis, 55 phase II (proof of concept/efficacy)
|
From page 401... ...
off-label use, 10, 26, 191-193, 198, Databases and data resources 202-203 approved drugs, 139 pricing of drugs and devices, 9-10, 179, clinical trial review findings, 83-84, 180-181, 183, 187, 189, 190, 191, 164-165 193-194, 196, 197, 198, 199, 201 generic orphan drugs, 295, 315 private health plans, 182, 197-198 OMIM, 34, 35 n.7 recommendations, 10, 201-202, 245 orphan drugs, 91 transition from pediatric to adult care Orphanet, 33-34, 35, 36, 46, 48, 93 and, 68 n.12 Critical Path Initiative, 8, 95, 102, 109, product research grants lists, 94 168, 171, 174, 242 DeBakey VAD Child Left Ventricular Assist Critical Path Institute (C-Path) , 168, 169 System, 207, 221 Critical Path to TB Drug Regimens, 169 Deep brain stimulation devices, 17, 229, Crohn's disease, 327 230, 235, 237 Cromolyn sodium (Opticrom)
|
From page 402... ...
, 88 219, 348-349 Drug-resistant strains of infectious diseases, genetic tests, 57, 58, 60, 124, 125, 183- 38, 42, 53 184, 213, 228 n.17, 283, 351, 382 Drugs (see also Orphan drugs) imaging services and technologies, 102, defined, 36, 350 123, 124, 137, 186, 206, 212, 231 off-label use, 37 implanted laboratory-on-a-chip, 232 Drugs for Neglected Diseases, 141 insurance coverage, 60 Druker, Brian, 111, 112 newborn screening, 17, 46, 57-59, 64, Duchenne muscular dystrophy, 52, 59, 63, 117, 124, 125, 377 113, 131 obstacles to, 59-60 Dupuytren contracture, 37, 97 orphan drugs for, 37 Dystonia Coalition, 366 phenotyping, 123, 125, 127, 136, 164, Dystonia Medical Research Foundation, 357 26 n.1 regulation of devices for, 124, 212-214 Dystonias, 17, 221, 366 SMN (human)
|
From page 403... ...
, 90 Epigenetics, 15, 44, 115-116, 118, 124, 5-Fluorouracil, 55 n.12 125, 155, 350 Focal and segmental glomerulosclerosis, 367 Episodic ataxias, 366 Folic acid supplementation, 56 Erythema nodosum leprosum, 56, 318, 323, Food and Drug Administration, 2, 376 (see 327 also Approval process for orphan Erythropoietic protoporphyria, 368 drugs and biologics; Center for Ethical issues, 44, 55, 57, 77 n.2, 125, 234- Biologics Evaluation and Research; 235, 377 Center for Drug Evaluation and European Medicines Agency, 29, 48 n.8, 168 Research; Regulation of orphan European Rare Diseases Therapeutic drugs and biologics) Initiative, 142 Advancing Regulatory Science Initiative, European Union 102, 103 coding of rare diseases, 46 agency-wide concerns, 101-103 definition of rare disease, 32, 33, 34, 47 complexity of work of, 73 EPPOSI workshop on patient registries, Critical Path Initiative, 8, 95, 102, 109, 160 168, 171, 174, 242 Orphanet, 33-34, 35, 36, 46, 48, 93 n.12 grants program for orphan products, 4, policy incentives for orphan drug 133 development, 29, 30 guidance on animal carcinogenicity prevalence of rare diseases, 33-34, 48, studies, 150, 151 93 n.12 interagency collaborations, 156 survey of rare diseases, 59 international initiatives, 29 Treat-NMD Clinical Research Initiatives, Medical Device Reporting system, 219 382 Neurologic Drugs Advisory Committee, Exome sequencing, 116, 124, 125, 349-350 23 NIH-FDA Leadership Council, 106 Office of Combination Products, 214 F Office of Orphan Products Development, 28, 30, 87, 88, 90-91, 92, 100, 101, Fabry disease, 46, 121, 366 104-105, 108, 109, 172, 206, 210, Familial bilateral striatal necrosis (FBSN)
|
From page 404... ...
, 81 Health, 157-158, 167, 174 GenBank, 127 Fragile X syndrome, 57, 287 Gene, defined, 350 Freedom of Information Act, 83 n.4, 302 Gene expression n.23, 304 n.31 analysis/profiling, 116, 117, 124, 125, Friedreich's ataxia, 52, 169, 382-383 351 Friedreich's Ataxia Research Alliance, 128, defined, 350-351 373, 382-384 Gene mapping, 114-115, 351 Frontotemporal dementia, 373 Gene products, 62, 114, 351 Fucosidosis, 367 Gene therapy/transfer, 62, 63, 122-123, Fujirebio Mesomark Assay, 212 n.6 135, 351, 377, 379 Funding Gene transcription, 116, 349, 350-351, 355, advocacy groups and foundations, 28, 360 29, 132, 133-134, 141, 172-173 GeneClinics, 382 animal model development, 127-128 Genentech, 299 basic research, 21, 130-134, 168, 291, Generic orphan products 374, 375 approval process, 76, 78, 89, 93 for biomedical research, by source, 28 availability, 93, 181, 296, 301, 315, clinical research consortia, 161-162 321, 323-327, 329 clinical trials, 102, 103, 107, 132 biologics, 181, 301 commercial sources, 28, 29 challenges to innovator patents, 89 n.9 epidemiological data and, 44 clinical trials, 75, 89 FDA grants under HDE, 4, 26, 29, 30, competitiveness, 10, 181, 301, 303 n.28 37, 74, 86, 87, 91, 94 databases, 295, 315 foreign governments, 134 exclusivity rules and, 88-89, 90, 181, inadequacies, 156 301 information sharing tied to, 127, 141 incentives for development, 88-89 landscape analysis, 374 insurance coverage, 189, 190, 194, 196, NIH and other federal agencies, 21, 27, 197, 312, 314, 321 28, 102, 103, 127, 130-133, 134, market share for orphan drugs, 93 161-162, 172-173 new orphan drug approval for orphan products grants program, 6, 12, discontinued drugs, 93 94, 108-109 pricing, 181, 190, 196, 197 preclinical research, 132 public availability of FDA review, 83 prevalence of disease and, 130-132 GeneTests, 60, 382 tracking and coordinating, 27 Genetic Alliance, 42, 70, 284, 372 training of researchers, 135, 136, 137, Genetic Alliance Biobank, 129 144-145 Genetic and Rare Diseases Information young investigator awards, 137 Center, 33 Fusobacterium necrophorum, 53
|
From page 405... ...
sequencing, 112, 116, 124, 125 Humanitarian Device Exemption (HDE) Genome-wide association studies, 115, 352 administration, 91, 210 Genomics Portal, 141 approvals, 218, 220, 222, 237 Genotype, 36, 45, 46 n.4, 58, 128, 248, clinical studies, 11, 212, 217, 223 n.13, 352, 357 236 Genotyping, 124, 127, 352 combination products, 214, 236, 237 n.20 Genzyme, 45 n.3 comparable devices, 216, 217 Giant cell (temporal)
|
From page 406... ...
Humanitarian Use Device (HUD) , 11- defined, 37, 309 n.1 12, 215, 217, 236-237, 240, 253 Medicare-relevant drugs by, 323-331 (see also Medical devices for small pediatric drugs by, 338-340 populations)
|
From page 407... ...
, 319, 325, 332 investigator training and recruitment, 7, Interleukin-10, 123 25, 77 n.2, 133, 134-137, 144-145, International Classification of Diseases, 46 149, 156, 164, 170, 171, 233, 243, International Committee of Medical Journal 284, 386 Editors, 166 recommendations, 8-9, 175-177, 242, International Federation of Pharmaceutical 243, 244 Manufacturers Associations, 138 n.2 Inherited Neuropathies Consortium, 366 International Fibrodysplasia Ossificans InnoCentive, 166 Progressiva Association, 67 Innovation effects of Orphan Drug Act International Network of Paediatric all drugs approved, 92, 298-301 Surveillance Units, 46 n.4 analysis, 306-308 International Partnership for Microbicides, characteristics of orphan drugs, 92-93, 169 301-303 International Registry of Acute Aortic clinical trials development process, Dissections, 129 303-306 International Rett Syndrome Foundation, grant-supported projects approved or 134, 287, 373-375 cleared, 94 International Scientific Conference on method for analyzing impacts, 295-298 Friedreich's Ataxia, 383 for more common vs. less common Interstitial cystitis, 326 diseases, 93 Intrathecal drug delivery device, 219 overview of, 92-93 Investigational Device Exemption (IDE)
|
From page 408... ...
Marfan syndrome, 16, 52-53, 59, 113, 118, combination products, 214, 348 131, 134, 161, 162-163, 176 defined, 296, 354 Marketing exclusivity drugs, 39, 75, 150, 155, 302, 308 comparable drugs from competitors, medical devices, 209, 210, 212 n.7, 223, 89-90 349 competitive advantage, 11, 86-87, 90, medical foods, 31 n.3 209, 292 phase III trials and, 39, 155, 348 defined, 4, 87, 354 revision based on postmarketing studies, devices, 11, 208-209, 215, 216, 217 150, 308 eligibility/ineligibility for, 88, 299 statutory basis, 75, 209 exceptions, 89-90 Lamotrigine (Lamictal) , 303, 327, 334 generic versions of brand-name drugs, Lead poisoning, 338 88-89, 90, 181, 301 Leber congenital amaurosis, 123, 131 impacts of, 294 Leber hereditary optic neuropathy, 368 international comparisons, 29, 30 Leigh syndrome, 368 legislation to limit, 27 Leishmaniases, 37-38, 142 nonorphan drugs, 294 Lemierre's syndrome, 53 orphan drugs and biologics, 4, 11, 26, Lennox-Gastaut syndrome, 303, 327, 328, 86-90, 181, 208, 216, 217, 292, 294, 331, 338 295, 301, 303 n.30, 309, 323-331, Lepromatous leprosy, 54, 318, 323 338-340 Leptomeningeal angiomatosis, 365 patents and, 74, 87, 88-90, 208, 209, Leroy Matthews and Harry Shwachman 294 Awards, 137 pediatric drugs, 89, 338-340 Leukemias, 47-48 population criterion and, 43 n.1, 216 Leukoencephalopathy, 55, 368
|
From page 409... ...
323-331 clinical studies, 11, 231-234 pediatric orphan drugs, 338-342 emergence of complex medical devices, plans and drug prices, 193-194, 197, 226 311-316 HDE effects on innovation, 234-237 prices paid by Medicare under, 196 incentives for, 2, 12, 27, 86, 216-220 recommendations, 10, 201-202, 245 innovation process, 226-231 stand-alone PDPs and MA-PDs, 316 orphan drug R&D compared to, 207- 321, 332-337, 341-342 209, 216-220 tiered cost sharing structure, 10, Medical devices for small populations 190-191, 195, 312-313, 319, 320, (see also Humanitarian Device 323-331 Exemption; Regulation of medical utilization management structure, 191, devices) 313, 319-321, 323-331 approvals, 2 Medicare Payment Advisory Commission defined, 36-37, 354-355 (MedPAC)
|
From page 410... ...
National Health Council, 376 Mucoepidermoid carcinoma, 369 National Heart, Lung, and Blood Institute, Mucolipidosis, 367 45, 66, 134, 162, 230-231 Mucopolysaccharidosis, 45 n.3, 121, 330, National Human Genome Research 367 Institute, 33 Multiple myeloma, 56, 141, 180, 200, 304 National Huntington's Disease Association, n.31 26 n.1 Multiple Myeloma Research Consortium, National Institute of Biomedical Imaging 141, 162 and Bioengineering, 231 Multiple Myeloma Research Foundation, National Institute of Neurological Disorders 372 and Stroke (NINDS) , 139, 382 Multiple respiratory chain enzyme National Institutes of Health (see also Office deficiencies, 368 of Rare Diseases Research; individual Multiple sclerosis, 55, 324, 325, 326, 371 centers and institutes)
|
From page 411... ...
5-6, 9, 12, 27, 74, 98, 108, 145, 156, defined, 37-38, 356 223 FDA review group, 100 FDA referral of grant applications to, innovation platforms, 165, 168-169, 243 109 international efforts, 53, 172 n.3, 243 funding for rare diseases research, 27, NIH program, 139 45 n.3, 130-133, 134, 136, 137, 149, priority review vouchers for, 82 203, 374 public-private partnerships, 138, 139, GenBank, 127 142, 149, 168-169 and integrated national strategy, 242, sharing resources, 141-142, 173 247 training of investigators, 136 interagency collaborations, 156 TRND program, 2, 29, 139, 171, 174 natural history studies, 45 n.3 tropical diseases, 3, 31, 37-38, 82, 138, Newborn Screening Translational 149 Research Network, 58 NeoGram Amino Acids and Acylcarnitine NIH-FDA Leadership Council, 106 Tandem Mass Spectrometry Kit, 210 Pathway to Independence awards, 144 n.4 preclinical development service, 7-8, Nephropathic cystinosis, 64, 325 173-174, 243, 245 Nephrotic Syndrome Rare Disease Clinical RAID program, 139, 169-170, 171, 174 Research Network (NEPTUNE) , 367 Rare Diseases Clinical Research Netherlands, 138 n.2 Network, 2, 8, 9, 19, 21, 25, 28, 45, Neural tube defects, 56 52, 67, 71, 135, 145, 162, 163, 171, Neurofibromatosis, 26 n.1, 28, 44, 45, 131 175-176, 365-369 Neurofibromatosis Clinic Network, 67 recommendations for, 6-8, 108-109, Neuronal ceroid lipofuscinosis, 63 129, 142-144, 145-146, 164, 173- Neuropathy, ataxia and retinitis pigmentosa 174, 242, 243, 245 syndrome, 368 RePORTER database, 130 New Drug Application (NDA)
|
From page 412... ...
database, 34, 35 n.7 Orphan drugs (see also Approval process OP-1 Putty, 214 for orphan drug and biologics; Organ transplants, 62, 63, 64, 187, 198, Infrastructure for research, drug 200, 232, 312, 329, 377 development; Orphan drug R&D; Ornithine transcarbamylase deficiency, 325, specific drugs) 369 approvals by FDA, 2, 21, 92-93, Ornithine translocase deficiency syndrome, 147-148 369 compendium of off-label uses, 10 Orphan Drug Act (see also Humanitarian database, 91 Device Exemption; Innovation effects defined, 37 of Orphan Drug Act; Regulatory mechanism of action unclear, 64-65 policy incentives)
|
From page 413... ...
, 150, term restoration, 88, 209 326, 332 Patient Advocate Foundation Co-Pay Relief Personalized medicine, 20, 202, 248, 351, Program, 200 356 Patient Protection and Affordable Care Act Pfizer Inc., 142, 170 of 2010, 70, 78, 170, 181, 182, 183, Pharmaceutical Assets Portal, 170 189, 195-196, 197, 198, 201, 202, Pharmaceutical Manufacturers Association, 229 n.18, 312 n.4 23 Patient registries (see also specific registries) Pharmaceutical Research and Manufacturers biorepository links, 159-160 of America, 23, 77 n.2, 167 Cancer Brain Tumor Registry, 17 Pharmacia, 299 and clinical trials, 159, 161 Pharmacogenomics, 55 n.12, 124, 184 n.3 data sharing, 8, 160, 175 Phenomics, 124
|
From page 414... ...
INDEX Phenotype-genotype correlations, 36, 45, 46 Premarket approval application, 11, 211, n.4, 128 215, 216, 217-218, 220 n.13, 222, Phenotypes/phenotypic variation, 36, 44, 223, 230, 231, 233, 234, 235, 236, 51, 113, 115, 129, 143, 357, 359, 239, 240, 346, 349, 353, 358 381 Prescription Drug User Fee Act of 1992, 79 Phenotypic Drug Discovery Initiative, 142 Prevalence of rare diseases Phenotyping, 123, 127, 136, 164, 357 and approvals of orphan drugs, 4-5, 93, Phenylalanine, 63, 158 98, 106 Phenylketonuria, 20, 63, 68, 158, 331 and biomarker validation, 157 Phosphate, 63 complete prevalence, 47 Phosphine, 54 data sources, 33-34, 45-46, 48-49, 128, Pilot projects, 10, 133, 137, 139, 162, 165, 129, 130 189, 203, 229 n.19, 233 defined, 43, 353, 358 Placebo, defined, 357 distribution of rare conditions, 1, 48, 49, Pneumocystis carinii pneumonia, 324 93 n.12 Poisonings, rare, treatment of, 54 documentation to support "orphan" Polyarteritis nodosa, 369 designation, 44, 87, 90-91, 100 Polymorphisms, 116, 124, 125, 352, 357, estimates for specific diseases, 17, 47, 48 358-359 n.7, 180 Pompe disease, 96, 121, 159, 198, 329, 367 marketing exclusivity and changes in, 43 Porphyria Consortium, 368 n.1, 216 Porphyria cutanea tarda, 368 measurement and expression of, 44, Postmarketing studies/requirements, 148 47-48 carcinogenicity studies, 150 reliability of data, 43, 48, 50 defined, 39, 348, 357 and research constraints, 112 difficulty completing, 97-98 and resource allocation, 44, 57, 130, examples of approvals with, 96, 97, 212 131, 132 medical devices, 210, 212 thresholds for "rare" definition, 32-33, monitoring and reporting requirements, 34, 47, 85-86, 215-216 156, 157 Prevention of rare diseases pediatric studies, 82, 96 cost-effectiveness, 58 purpose of and rationale for, 39, 40, 62 epidemiological significance, 42 registries for, 83, 96, 159, 167, 298, 306 newborn screening programs, 17, 46, REMS, 79 n.3, 82-83, 298, 306 57-59, 64, 117, 124, 125 scope of this study regarding, 31, 39 orphan drugs, 37 surrogate endpoints in phase III trials primary, 55-57 and, 81 progressing, 20 trends in requirements for, 298, 305, secondary, 57-59 307, 308 tertiary (see Treatment of rare diseases) withdrawal of approval based on, 156 Prices/pricing of orphan products, 181, 190, Prader-Willi syndrome, 46 n.4, 48 n.7, 115- 196, 197 116, 339, 365 Primary ciliary dyskinesia, 65, 131, 132, Preclinical research, 7-8, 40, 81, 89, 95, 366 100, 107, 108, 120, 128, 132, 139, Primary hyperoxaluria, 63, 369 145, 146, 147, 148, 149-152, 153, Primary Immune Deficiency Treatment 162, 168, 169, 172, 173, 174, 211- Consortium, 368-369 212, 227, 242, 243, 357-358 (see Product development, defined, 40 also Animal models and studies; Progeria, 21, 22, 131, 132 Basic research)
|
From page 415... ...
phenotype rarity, 36 Public-private partnerships and other knowledge base, 42 coordinating strategies impacts on patients, families, and biomarker identification and validation, communities, 41-42, 69-72 157-158, 167, 168 information resources, 33-34 clinical trials, 134 number and variety of, 16, 33, 42-43, Coalition Against Major Diseases, 167, 50, 112 168 number of people affected, 51 Critical Path Initiative, 8, 95, 102, 109, Rare Diseases Act, 25, 51 168, 171, 174, 242 Rare Diseases Clinical Research Network, defined, 138 2, 8, 9, 19, 21, 25, 28, 45, 52, 67, importance, 26 71, 135, 145, 162, 163, 171, 175 neglected tropical diseases model, 176, 365-369 138-139 Rare Diseases Day, 71 NIH programs, 139 Rare Disease Orphan Product Development promoting research, 134 Act, 25 recommendations for strengthening the Rare Kidney Stone Consortium, 369 drug safety system, 101 Recombinant Spinal Muscular Atrophy project, 139 DNA techniques, 121, 351 TRND program, 2, 29, 139, 171, 174 hirudin, 221 Pulmonary artery hypertension, 159, 302, human acid alpha-glucosidase 303, 328, 330 (Myozyme) , 329, 332 Pulmonary fibrosis, 49 human bone morphogenetic protein, 214 Pulmonary hyperinflation, 377 n.10 Pure autonomic failure, 365 human growth hormone, 329 Pycnodysostosis, 367 Recommendations assessment of CDER review of applications (3-1)
|
From page 416... ...
defined, 358 commercial value and, 25 genetic tests, 60 establishing eligibility for, 87-88 Regulation of medical devices (see also fee waivers, 4, 24-25, 26, 30, 79-80, 86, Humanitarian Device Exemption) 87, 217, 292, 309 alternate approval routes, 215-220 generic products, 88-89 basic framework, 209-215 grants for research, 4, 26, 29, 30, 37, clearance process, 210-211, 219, 222, 74, 86, 87, 91, 94, 292, 293 223, 237, 347 guidance for product developers, 26, 30, combination products, 214-215 292 custom device, 222-224, 349 historical context, 2, 22-27 device classification and, 210-212 international comparisons, 29, 30 diagnostic devices, 60, 124, 212 medical devices, 2, 25, 27, 37, 86, in vitro devices, 212 216-222 laboratory-developed tests, 213 orphan drugs, 29, 86-88, 216-220 marketing exclusivity, 11, 208-209, 215, pediatric drugs and devices, 25, 89, 91, 216, 217 220-222 pediatric devices, 220-222 program administration, 90-91 premarket approval application, 11, statutory basis for, 2, 4, 21, 25-26, 37, 211, 215, 216, 217-218, 220 n.13, 74, 85, 292 222, 223, 230, 231, 233, 234, 235, tax credits, 4, 12, 23, 24, 26, 30, 74, 86, 236, 239, 240, 346, 349, 353, 358 87, 216-217, 238, 292, 309, 379 time line, 24-25 Regulatory science, 4, 102, 103, 106, 358
|
From page 417... ...
, 79 n.3, 82-83, 298, 306 166-167, 177 Rockefeller Foundation, 138 n.2 conferences, symposia, and workshops, Rocky Mountain spotted fever, 53 334 Roll Back Malaria Partnership, 138 n.2 DNA sequences, 127 Rufinamide (Banzel) , 303, 331, 334 disease mechanism data, 7, 118, 140-141 importance, 26-27, 118 S incentives for, 126-127, 141 institutional barriers, 126, 142 Safe Medical Devices Act of 1990, 24, 27, intellectual property issues, 125-126, 206, 215 (see also Humanitarian 140, 142 Device Exemption)
|
From page 418... ...
, 302, 305 n.33 Takayasu's arteritis, 369 SPARK program, 135-136 Tangier disease, 15 Special Programme for Research and Target discovery (see also Basic research; Training in Tropical Diseases, 138, Infrastructure for research) 169 barriers and constraints, 112, 113-114 Spina bifida, 20, 56 basic research, 111 Spinal muscular atrophy, 379-380 bioinformatics, 117-118, 141 Spinal Muscular Atrophy Foundation, 373, data sharing, 118, 140-141 379-382 epigenetics, 115-116 Spinal Muscular Atrophy project, 139 exome sequencing, 116 Spinocerebellar ataxia, 35, 366 gene expression analysis, 116 Spiration IBV, 221, 235 genetic studies, traditional, 20, 114-117 Spiration, Inc., 235 genome sequencing, 112, 116 Squamous cell carcinoma of the head and metabolomics, 117 neck, 329 modifier genes, 115 Standards/standardization promotion of, 27-29 biomarker validation and application, proteomics, 116-117 174 public-private partnerships, 139 condition-specific codes, 46 sharing disease mechanism data, 7, 118, data collection, 45, 156, 164 140-141 delivery of care, 66 systems biology, 118 diagnostic approaches, 60-61 and treatment of common conditions, Stanford University, 135-136, 230 113 Stem cell therapy/transplants, 62, 63, 64, value of, 15-16, 19, 20, 112, 113 122, 123, 259 TAS Ecarin Clotting Time Test, 212 n.6, Stem cells, defined, 357, 359 221 Sterol and Isoprenoid Diseases Consortium Tax credits, 4, 12, 23, 24, 26, 30, 74, 86, (STAIR)
|
From page 419... ...
infrastructure, 67, 125, 170, 171 biologics, 120-122 investigator training, 134, 136, 137, combined gene and cell therapy, 123 164, 170 data sharing, 141-142 networks, 58, 170 diagnostic technologies and, 123-125 scope of this study, 31, 284 funding, 130-134 sharing of resources, 242, 243 gene therapy, 122-123 venture philanthropy strategies, 165 high-throughput screening of compound Trastuzumab (Herceptin) , 214, 228 n.17 libraries, 119-120, 139, 141-142, Treatment of rare diseases (see also Delivery 352-353 of health care services)
|
From page 420... ...
, 46, Vaccines, 37, 78, 120, 121, 134, 149-150, 138 n.2, 303 n.29, 330 151, 346 Variegate porphyria, 368 Vasculitis, 45, 52 X Vasculitis Foundations, 70 X-linked adrenoleukodystrophy, 115 Vasculitis Research Consortium, 52, 369 X-linked hypophosphatemic rickets, 63, 65 Ventricular septal defects, 220 n.13 X-linked protoporphyria, 368 Ventricular tachyarrhythmias, 302, 324 Xeroderma pigmentosa, 63 Vertical Expandable Prosthetic Titanium Xerostomia, 325 Rib, 205, 206, 211, 220, 223 n.15, 228, 229, 233 Veterans Health Administration, 184 Z Vitamin D supplementation, 63 Vogt-Spielmeyer disease, 367 Zinc acetate (Galzin) , 317, 318, 326, 332 Zymenex A/S, 45 n.3
|
Key Terms
This material may be derived from roughly machine-read images, and so is provided only to facilitate research.
More
information on Chapter Skim is available.