Diagnostics and Therapeutics for Genetic Diseases

Published by: BCC Research

Published: Apr. 1, 2006 - 171 Pages

Table of Contents

INTRODUCTION

STUDY GOAL AND OBJECTIVES

SCOPE AND FORMAT

CONTRIBUTIONS OF THE STUDY AND AUDIENCE

METHODOLOGY AND INFORMATION SOURCES

ABOUT THE AUTHOR

RELATED BCC REPORTS

BCC ONLINE SERVICES

DISCLAIMER

SUMMARY

Summary Table: U.S. MARKET FOR THERAPEUTICS AND DIAGNOSTICS FOR GENETIC DISEASES, BY SEGMENT THROUGH 2010 ($ MILLIONS)

Summary Figure: U.S. MARKET FOR THERAPEUTICS AND DIAGNOSTICS FOR GENETIC DISEASES, BY SEGMENT, 2000-2010 ($ MILLIONS)

OVERVIEW

INTRODUCTION TO MONOGENIC DISEASES

GENETIC TESTING

CARRIER SCREENING

PRENATAL DIAGNOSTIC TESTING

Ultrasound

Amniocentesis

Chorionic Villus Sampling (CVS)

Maternal Serum Alpha-Fetoprotein (MSAFP)

Triple or Quadruple Screen

Advanced Maternal Age

Table 1 MATERNAL AGE AND RISK OF CHROMOSOMAL ABNORMALITIES

Maternal Medical Problems

Genetic Counseling

PREIMPLANTATION DIAGNOSIS

NEWBORN SCREENING

Table 2 NEWBORN SCREENING RECOMMENDED BY THE AMERICAN COLLEGE OF MEDICAL GENETICS

Table 3 STATES WITH MANDATED NEWBORN SCREENING FOR ALL 29 OF THE RECOMMENDED ACMG DISORDERS, DECEMBER 2005

Table 4 STATES WITH MANDATED NEWBORN SCREENING FOR AT LEAST 20 OF THE RECOMMENDED ACMG DISORDERS, DECEMBER 2005

PRESYMPTOMATIC TESTING

CONFIRMATIVE DIAGNOSIS

Table 5 COMMON DNA-BASED GENE TESTS

SUCCESSES AND LIMITATIONS OF GENETIC TESTING

REGULATORY POLICIES

INSURANCE

MARKET BY DISEASE SEGMENT

CYSTIC FIBROSIS

INTRODUCTION

GENETICS

Table 6 INCIDENCE OF COMMON MUTATIONS IN CYSTIC FIBROSIS IN THE UNITED STATES

SYMPTOMS

Mild to Moderate CF Lung Disease

Advanced/Severe CF Lung Disease

Pancreatic Insufficiency

Diabetes

Liver Damage

Fertility

Osteoporosis

DIAGNOSIS

TREATMENT OVERVIEW

Table 7 U.S. MARKET FOR CYSTIC FIBROSIS THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 1 U.S. MARKET FOR CYSTIC FIBROSIS THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

DIAGNOSTICS FOR CYSTIC FIBROSIS

Table 8 U.S. MARKET FOR CYSTIC FIBROSIS DIAGNOSTICS TESTING BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 2 U.S. MARKET FOR CYSTIC FIBROSIS DIAGNOSTICS TESTING BY SEGMENT, 2000-2010 ($ MILLIONS)

PHARMACEUTICALS IN TREATMENT OF CYSTIC FIBROSIS

Bronchodilators

Dnase

Table 9 HEALTH-RELATED ECONOMIC END POINTS OF PULMOZYME REPORTED DURING A 24-WEEK STUDY

Pancreatic Enzyme Therapy

Table 10 MAJOR MANUFACTURERS OF PANCREATIC ENZYME THERAPIES

CORTICOSTEROIDS

ANTIBIOTICS

Table 11 U.S. MARKET FOR PHARMACEUTICALS IN TREATMENT OF CYSTIC FIBROSIS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

The Market for Pharmaceuticals in the Treatment of CF

Bronchodilators

Pancreatic Enzyme Therapies

Corticosteroids

Antibiotics

TRANSPLANTS IN TREATMENT OF CYSTIC FIBROSIS

Transplant Timing

Lung Function

Market for Transplants in the Treatment of Cystic Fibrosis

Table 12 U.S. MARKET FOR TRANSPLANTS IN TREATMENT OF CYSTIC FIBROSIS, BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

FUTURE DIRECTIONS IN CF TREATMENT

Ion Channel Modulators

Curcumin

Living Donor Transplants

Gene Therapy

DUCHENNE AND BECKER MUSCULAR DYSTROPHY

INTRODUCTION

MUTATIONS

SYMPTOMS

DIAGNOSIS

TREATMENT

Table 13 U.S. MARKET FOR MUSCULAR DYSTROPHY THERAPEUTICS, BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 3 U.S. MARKET FOR MUSCULAR DYSTROPHY THERAPEUTICS, BY SEGMENT, 2000-2010 ($ MILLIONS)

DIAGNOSTICS FOR DMD/BMD

Table 14 U.S. MARKET FOR DMD/BMD DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 4 U.S. MARKET FOR DMD/BMD DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

Pharmaceuticals for the Treatment of Muscular Dystropies

Table 15 U.S. MARKET FOR PHARMACEUTICALS IN TREATMENT OF DMD/BMD BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

Physiotherapy

Mechanical Ventilatory Assistance/Volume Ventilators

FUTURE DIRECTIONS IN DMD/BMD TREATMENT

HEMOPHILIAS

HEMOPHILIA A

Symptoms

Genetics

Diagnosis

Therapy

HEMOPHILIA B

Genetics

HEMOPHILIA C

VON WILLEBRAND DISEASE

HEMOPHILIA TREATMENT

Table 16 U.S. MARKET FOR HEMOPHILIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 5 U.S. MARKET FOR HEMOPHILIA THERAPEUTICS BY SEGMENT, 2000- 2010 ($ MILLIONS)

DIAGNOSTICS FOR HEMOPHILIAS

Table 17 U.S. MARKET FOR HEMOPHILIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 6 U.S. MARKET FOR HEMOPHILIA DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

PHARMACEUTICALS IN TREATMENT OF HEMOPHILIAS

Replacement Therapy

Table 18 MAJOR CLOTTING FACTOR REPLACEMENT THERAPIES AND MANUFACTURERS IN THE U.S.

Other Pharmaceuticals

Desmopressin

Antifibrinolytic Drugs

Market for Pharmaceuticals in the Treatment of Hemophilias

Table 19 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF HEMOPHILIA BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

TRANSPLANTS IN TREATMENT OF HEMOPHILIAS

FUTURE DIRECTIONS

Improved Purification Processes

Gene Therapy

Table 20 GENE THERAPY TRIALS FOR HEMOPHILIA

HEREDITARY HEMOCHROMATOSIS

INTRODUCTION

GENETICS

SYMPTOMS

DIAGNOSIS

TREATMENT

Table 21 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS THERAPEUTICS, BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 7 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS THERAPEUTICS, BY SEGMENT, 2000-2010 ($ MILLIONS)

DIAGNOSTICS FOR HEREDITARY HEMACHROMATOSIS

Table 22 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 8 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS BY CONFIRMATORY DIAGNOSIS, 2002-2010 ($ MILLIONS)

TRANSFUSIONS/ PHLEBOTOMY IN THE TREATMENT OF HEREDITARY HEMACHROMATOSIS

Table 23 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF HEREDITARY HEMACHROMATOSIS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

POLYCYSTIC KIDNEY DISEASE

INTRODUCTION

GENETICS

DIAGNOSIS

AUTOSOMAL DOMINANT PKD

Symptoms

Diagnosis

Treatment

Pain Relief

Urinary Tract Infections

High Blood Pressure

End-Stage Renal Disease (ESRD)

AUTOSOMAL RECESSIVE PKD

Genetics

Symptoms

Diagnosis

Treatment Overview

The U.S. Market for Polycystic Kidney Disease Therapeutics

Table 24 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 9 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

DIAGNOSTICS FOR POLYCYSTIC KIDNEY DISEASE

Table 25 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 10 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

PHARMACEUTICALS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE

Vitamin D Analogues

Erythropoietin (EPO)

IV Iron Therapy

Table 26 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF POLYCYSTIC KIDNEY DISEASE BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

DIALYSIS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE

Table 27 U.S. MARKET FOR DIALYSIS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

TRANSPLANTS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE

Table 28 U.S. MARKET FOR TRANSPLANTS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE, BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

SICKLE CELL AND RELATED ANEMIAS

INTRODUCTION

GENETICS

SYMPTOMS

Vasoocclusive Crises

Aplastic Crisis

Splenic Sequestration Crisis.

DIAGNOSIS

Newborn Screening

TREATMENT OVERVIEW

Febrile Illness

Painful (Vaso-Occlusive) Crises

Acute Chest Crisis

Hydroxyurea

Blood Transfusions

Table 29 U.S. MARKET FOR SICKLE CELL ANEMIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 11 U.S. MARKET FOR SICKLE CELL ANEMIA THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

DIAGNOSTICS FOR SICKLE CELL ANEMIA

Table 30 U.S. MARKET FOR SICKLE CELL ANEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 12 MARKET FOR SICKLE CELL ANEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

PHARMACEUTICALS IN TREATMENT OF SICKLE CELL AND RELATED ANEMIAS

Hydroxyurea

Emerging Pharamceuticals

Erythropoietin (EPO)

Clotrimazole

Fluocor

Table 31 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF SICKLE CELL ANEMIA BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

TRANSFUSIONS IN TREATMENT OF SICKLE CELL AND RELATED ANEMIAS

Table 32 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF ANEMIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

FUTURE TREATMENTS

THALASSEMIAS

INTRODUCTION

ALPHA THALASSEMIA

Genetics

Symptoms

BETA (b) THALASSEMIAS

Genetics

Symptoms

DELTA (d) THALASSEMIA

THALASSEMIA IN COMBINATION WITH OTHER HEMOGLOBINOPATHIES

DIAGNOSIS

TREATMENT OVERVIEW

Table 33 U.S. MARKET FOR THALASSEMIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 13 U.S. MARKET FOR THALASSEMIA THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

DIAGNOSTICS FOR THALASSEMIA

Table 34 U.S. MARKET FOR THALASSEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)

Figure 14 U.S. MARKET FOR THALASSEMIA DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)

TRANSFUSIONS IN TREATMENT OF THALASSEMIA

Table 35 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF THALASSEMIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)

FUTURE TREATMENTS

EMERGING THERAPEUTIC TARGETS

ENZYMATIC DEFICIENCIES

ALPHA-1-ANTITRYPSIN DEFICIENCY

Symptoms

Genetics

Treatment

GAUCHER DISEASE

Symptoms

Diagnosis

Genetics

Treatment

PHENYLKETONURIA

Diagnosis

Treatment

MOTOR-NERVOUS SYSTEM DISEASES

AMYOTROPHIC LATERAL SCLEROSIS

Symptoms

Diagnosis

Genetics

Treatment

FUTURE DIRECTIONS

FRAGILE X SYNDROME

Genetics

Diagnosis

Treatment

CANAVAN DISEASE

Symptoms

Genetics

Treatment

NEUROFIBROMATOSIS TYPE 1

Genetics

Symptoms

Diagnosis

Treatment

IMMUNE SYSTEM DISORDERS

ATAXIA TELANGIECTASIA

Genetics

Symptoms

Treatment

Diagnosis

METABOLIC DISORDERS

MAPLE SYRUP URINE DISEASE

Symptoms

Genetics

Treatment

NIEMANN-PICK DISEASE

Genetics

Treatment

TAY-SACHS DISEASE

Symptoms

Genetics

Treatment and Future Directions

MUCOPOLYSACCHARIDE DISEASE (HURLER'S DISEASE, SANFILLIPO SYNDROME, HUNTER'S SYNDROME)

Table 36 MUCOPOLYSACCHARIDE DISEASES

MPS-I H, Hurler Syndrome

Diagnosis

Treatment

MPS-II, Hunter Syndrome

Genetics

Symptoms

Diagnosis

Treatment

MPS-III, Sanfillipo Syndrome

Diagnosis

Treatment

Future Therapies

MARKET BY PRODUCT TYPE

DIAGNOSTICS FOR GENETIC DISEASE

Table 37 U.S. MARKET FOR DIAGNOSTICS OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)

Figure 15 U.S. MARKET FOR DIAGNOSTICS OF GENETIC DISEASE BY DISEASE TYPE, 2000-2010 ($ MILLIONS)

PHARMACEUTICAL TREATMENTS OF GENETIC DISEASE

Table 38 U.S. MARKET FOR PHARMACEUTICAL TREATMENTS OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)

TRANSPLANTATION TREATMENT OF GENETIC DISEASE

Table 39 U.S. MARKET FOR TRANSPLANTATION TREATMENT OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)

TRANSFUSION TREATMENT OF GENETIC DISEASE

Table 40 U.S. MARKET FOR TRANSFUSION TREATMENT OF GENETIC DISEASE, BY DISEASE TYPE ($ MILLIONS)

PATENT EVALUATION

Table 41 MONOGENIC DISEASE TREATMENTS, PATENTS BY DISEASE, FEBRUARY 2004-FEBRUARY 2006

Table 42 MONOGENIC DISEASE TREATMENTS, PATENTS BY ASSIGNEE, FEBRUARY 2004-FEBRUARY 2006

Table 43 MONOGENIC DISEASE TREATMENTS, PATENTS BY REGION, FEBRUARY 2004-FEBRUARY 2006

Table 44 MONOGENIC DISEASE TREATMENTS, PATENTS BY INSTITUTION TYPE, FEBRUARY 2004-FEBRUARY 2006

RECENT PATENTS OF SIGNIFICANCE

METHOD FOR UPREGULATION OF CF TRANSMEMBRANE MEMBRANE CONDUCTANCE REGULATORS

ENHANCERS OF CFTR CHLORIDE CHANNEL FUNCTION

POTENTIAL NUTRACEUTICAL TREATMENT FOR PKD

SCREENING METHOD FOR COMPOUNDS TO TREAT PKD

GLYCOSYLATED, LOW ANTIGENICITY LOW IMMUNOGENICITY FACTOR VIII

ANTIVIRAL AGENT FOR PREVENTION OF CELL SICKLING

OUTLOOK

FUTURE DIRECTIONS

IDENTIFICATION OF MODIFIER GENES AND MUTATIONS

NON-INVASIVE PRENATAL TESTING

GENE THERAPY

STEM CELL THERAPY

CHALLENGES AND ETHICAL CONSIDERATIONS

INSURANCE COVERAGE

OVER-THE-COUNTER OPTIONS

PRENATAL TESTING

COMPANY PROFILES

AMGEN

ATHENA DIAGNOSTICS, INC.

CHIRON, INC

GENAERA CORP

GENENTECH INC.

GENZYME CORP.

LABORATORY CORPORATION OF AMERICA (LABCORP)

MAXYGEN

MILLENIUM PHARMACEUTICALS

MYRIAD GENETICS

ORCHID BIOSCIENCES

PFIZER INC.

QUEST DIAGNOSTICS

ROCHE (F. HOFFMANN-LA ROCHE LTD)

SANOFI-AVENTIS

VERTEX PHARMACEUTICALS, INC

WYETH-AYERST, INC.

Abstract

• Examines common genetic diseases that result from a single mutation, namely Cystic Fibrosis, Down Syndrome, Duchenne and Becker Muscular Distrophy, Fragile X Syndrome, Hemophilias, Polycystic Kidney Disease, Sickle Cell and related anemias, and Thalassemias
• Outlines the genetic causes, common mutations, diagnostic methods and disease pathology for each of the most frequent monogenic diseases
• Discusses current and emerging treatments, and analyzes the markets for each, with forecasts projected through 2010. Treatment markets include various types of pharmaceutical agents, transplants, and transfusions
• Profiles major companies and their market shares
• Evaluates significant patents
• Presents an outlook on future directions and challenges.

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