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Rare Diseases

BMI has focused on rare disease therapeutics since its inception in 1996.

BMI has a particular competency in orphan and ultra-rare diseases, with many of these diseases having patient populations in the hundreds to low thousands. There are many important ways in which rare diseases differ significantly from larger market opportunities—from having typically ill-defined epidemiology to very different models for clinical development, pricing, and market access.

BMI has completed hundreds of rare disease projects, ranging from early-stage new product opportunity assessments, indication and portfolio planning, and due diligence for investors, to, for products closer to launch, helping to optimize market access and pricing.  BMI has experience with numerous inborn errors of metabolism (IEMs), lysosomal storage diseases (LSDs), rare CNS disorders, and rare cancers (among others), with a range of modalities including small molecules, antibodies and biologics, siRNAs and ASOs, enzyme replacement therapies, and cell and gene therapies.

IEMs, LSDs, Inherited or Genetic Diseases

  • Angelman syndrome
  • Batten disease (NCLs)
  • Beta thalassemia (Major & Intermedia)
  • Congenital hyperinsulinism (CHI)
  • Cystic fibrosis (including specific mutations)
  • Dravet Syndrome & rare inherited DEEs (multiple, e.g., CDKL5)
  • Fabry disease
  • Familial chylomicronemia syndrome (FCS)
  • Farber disease
  • Fatty acid oxidation disorders
  • Fibrodysplasia ossificans progressiva (FOP)
  • Gaucher’s disease
  • Hemophilia (A and B)
  • Hereditary angioedema (HAE)
  • Hereditary periodic fever syndromes
  • Homozygous familial hypercholesterolemia (HoFH)
  • Huntington’s disease
  • Hyperphosphatemic familial tumoral calcinosis
  • Hypophosphatasia
  • Inherited retinal diseases (e.g., LCA)
  • Lipodystrophy syndromes
  • Krabbe disease
  • Menke’s disease
  • Mitochondrial DNA depletion syndromes
  • MPS (multiple)
  • MLD
  • Multiple osteochondromas (MO)
  • Myotubular myopathy (MTM)
  • Nephropathic cystinosis
  • Organic acidemias (e.g. MMA, PA)
  • Osteogenesis imperfecta (OI)
  • Phenylketonuria (PKU)
  • Pompe disease
  • Severe combined immunodeficiency (SCID)
  • Sickle cell disease
  • Urea cycle disorders/OTCD
  • X-linked hypophosphatemia (XLH)

 

Other Rare Diseases (Partial List)

  • Achondroplasia
  • Acromegaly
  • Acute intermittent porphyria
  • Alopecia areata (universalis and totalis)
  • Alport syndrome
  • Amyotrophic lateral sclerosis (ALS)
  • Atypical hemolytic uremic syndrome (aHUS)
  • Cushing’s disease
  • Focal segmental glomerulosclerosis (FSGS)
  • Hepatic veno-occlusive disease (VOD)
  • Idiopathic growth hormone deficiency
  • Idiopathic pulmonary fibrosis
  • Nephrogenic systemic fibrosis
  • Neonatal respiratory distress syndrome
  • Pancreatic enzyme deficiencies
  • Paroxysmal nocturnal hemoglobinuria (PNH)
  • Primary sclerosing cholangitis (PSC)
  • Pulmonary arterial hypertension (PAH)
  • Rare hematology / oncology indications (numerous—adult and pediatric)
  • Rhizomelic chondrodysplasia punctata (RCDP)
  • Schnitzler’s syndrome
  • Severe treatment refractory gout
  • Short bowel syndrome-intestinal failure
  • Tumor induced osteomalacia (TIO)
Elizabeth K. Brooks, Partner, San Francisco 

Ms. Brooks has worked in market research and health care policy for 30 years. During this time, she has helped biotechnology, pharmaceutical, and medical device companies develop marketing, reimbursement, distribution, and overall launch strategies for their products.  Ms. Brooks has analyzed markets for, and provided due diligence support on, hundreds of therapeutics.  She is also expert at reimbursement issues, offering analysis, education, and tactical support to pharmaceutical and biotechnology concerns, as well as medical device companies. In addition, Ms. Brooks has developed a model for helping companies evaluate the need for pharmacoeconomic studies and has trained hundreds of staff on the appropriate use of outcomes research tools.  Ms. Brooks holds a Masters of Business Administration and an Honors Bachelor of Arts degree in English, both from the University of Chicago. She also earned a Certificate from the University of Chicago Graduate Program on Health Administration and Policy.

Elizabeth K. Brooks, Partner, San Francisco 

Ms. Brooks has worked in market research and health care policy for 30 years. During this time, she has helped biotechnology, pharmaceutical, and medical device companies develop marketing, reimbursement, distribution, and overall launch strategies for their products.  Ms. Brooks has analyzed markets for, and provided due diligence support on, hundreds of therapeutics.  She is also expert at reimbursement issues, offering analysis, education, and tactical support to pharmaceutical and biotechnology concerns, as well as medical device companies. In addition, Ms. Brooks has developed a model for helping companies evaluate the need for pharmacoeconomic studies and has trained hundreds of staff on the appropriate use of outcomes research tools.  Ms. Brooks holds a Masters of Business Administration and an Honors Bachelor of Arts degree in English, both from the University of Chicago. She also earned a Certificate from the University of Chicago Graduate Program on Health Administration and Policy.

Paul C. Nagle, Partner, San Francisco

Mr. Nagle has advised medical product manufacturers on a wide range of strategic issues for over 30 years. He specializes in market assessments, payer and reimbursement strategy, and pricing and contracting strategy. With his thorough knowledge of payer policies, he has helped dozens of product manufacturers understand and penetrate managed care, Medicare, and Medicaid segments, as well as provider segments when they are de facto payers. He also frequently conducts due diligence for M&A and licensing opportunities for manufacturers and the investment community. Mr. Nagle performs pricing analyses and develops contracting strategies (including multiple product contracting) using a variety of methodologies. Mr. Nagle also has significant expertise in international market assessments.  Mr. Nagle is frequently called upon by his clients to research, analyze and strategize about particularly unique and challenging manufacturer dilemmas and novel areas of interest.  Mr. Nagle holds a Bachelor of Science in Business Administration from the Olin School at Washington University in St. Louis.

Paul C. Nagle, Partner, San Francisco

Paul C. Nagle for over 30 years, Mr. Nagle has advised medical product manufacturers on a wide range of strategic issues. He specializes in pricing strategy, payer and reimbursement strategy, and assessing markets and products for licensing and M&A due diligence. Mr. Nagle’s focus is most frequently on the US and Europe, but also includes Japan and Brazil. He frequently consults to the investment community for opportunities under consideration. Mr. Nagle performs pricing analyses and develops pricing and contracting strategies using a variety of methodologies. Mr. Nagle also has significant expertise in third-world market assessments. Mr. Nagle is frequently called upon by his clients to research, analyze and strategize about particularly unique and challenging manufacturer dilemmas and novel areas of interest. Additionally, Mr. Nagle has helped state Medicaid programs and private payers understand the impact of specialty products, and his analyses have impacted Medicare legislation. Mr. Nagle holds a Bachelor of Science in Business Administration from the Olin School at Washington University in St. Louis. Before co-founding BioMedical Insights, Mr. Nagle was at Health Technology Associates, which became part of Covance.

Christopher A. Nicita, Partner, San Francisco

Mr. Nicita specializes in market and technology assessment, new product planning, and pricing and reimbursement strategy. He has over 30 years of experience in health care market analysis and medical research. Mr. Nicita has helped identify and evaluate opportunities afforded by dozens of new products, technologies, and markets and has helped the firm’s clients develop and launch a number of innovative new therapies. He has worked with a range of companies, from industry leaders to start-ups, to make sound portfolio investment decisions and to optimize clinical development strategy. Mr. Nicita frequently consults to companies on prospective in-licensing and merger and acquisition candidates, and has provided due diligence services to a variety of health care investors. He has broad expertise in most therapeutic classes and disease areas including oncology, infectious diseases, immune-mediated and inflammatory diseases, endocrinologic diseases, ultra rare genetic diseases, and cardiovascular diseases, among others. Mr. Nicita holds a Masters of Business Administration and an Honors Bachelor of Science in Molecular Biology, both from the University of Michigan.

Christopher A. Nicita, Partner, San Francisco

Mr. Nicita specializes in market and technology assessment, new product planning, and pricing and reimbursement strategy. He has over 30 years of experience in health care market analysis and medical research. Mr. Nicita has helped identify and evaluate opportunities afforded by dozens of new products, technologies, and markets and has helped the firm’s clients develop and launch a number of innovative new therapies. He has worked with a range of companies, from industry leaders to start-ups, to make sound portfolio investment decisions and to optimize clinical development strategy. Mr. Nicita frequently consults to companies on prospective in-licensing and merger and acquisition candidates, and has provided due diligence services to a variety of health care investors. He has broad expertise in most therapeutic classes and disease areas including oncology, infectious diseases, immune-mediated and inflammatory diseases, endocrinologic diseases, ultra rare genetic diseases, and cardiovascular diseases, among others. Mr. Nicita holds a Masters of Business Administration and an Honors Bachelor of Science in Molecular Biology, both from the University of Michigan.

Andrew P. Kloek, Ph.D., Principal, Nashville

Dr. Kloek has worked in market research, reimbursement and technology assessment with BioMedical Insights since 2007. He holds a Bachelor’s degree in Genetics and Chemistry from Western Kentucky University and a Ph.D. in Genetics from Washington University in St. Louis. Prior to joining BioMedical Insights, he spent eight years with biotechnology start-up companies including three years working with Affymetrix-based micro-array technologies at Perlegen Sciences, a Mountain View, California-based company focused on pharmacogenomics and personalized medicine. He has co-authored 20 peer-reviewed scientific publications and 10 issued patents in the fields of genetics and biotechnology.

Andrew Kloek, Ph.D., Principal, Nashville

Dr. Kloek has worked in market research, reimbursement and technology assessment with BioMedical Insights since 2007. He holds a Bachelor’s degree in Genetics and Chemistry from Western Kentucky University and a Ph.D. in Genetics from Washington University in St. Louis. Prior to joining BioMedical Insights, he spent eight years with biotechnology start-up companies including three years working with Affymetrix-based micro-array technologies at Perlegen Sciences, a Mountain View, California-based company focused on pharmacogenomics and personalized medicine. He has co-authored 20 peer-reviewed scientific publications and 10 issued patents in the fields of genetics and biotechnology.

Jacqueline D. Koenig, Principal, Houston

Ms. Koenig has been with BioMedical Insights since 2004. She helps life sciences and medical device companies conduct due diligence, analyze market nuances, assess licensing and investment opportunities, prioritize clinical indications, and create market access strategies across numerous therapeutic categories. Prior to joining BioMedical Insights, Jacqui worked at the Kaiser Family Foundation developing national public education campaigns and conducting public opinion and provider surveys. She started her career at what is now Covance (formerly Health Technology Associates). Ms. Koenig holds a Bachelor of Arts degree in Economics from Vassar College and a Master of Science in Business degree from Johns Hopkins University.

Jacqueline Koenig, Principal, Houston

Ms. Koenig has been with BioMedical Insights since 2004. She helps life sciences and medical device companies conduct due diligence, analyze market nuances, assess licensing and investment opportunities, prioritize clinical indications, and create market access strategies across numerous therapeutic categories. Prior to joining BioMedical Insights, Jacqui worked at the Kaiser Family Foundation developing national public education campaigns and conducting public opinion and provider surveys. She started her career at what is now Covance (formerly Health Technology Associates). Ms. Koenig holds a Bachelor of Arts degree in Economics from Vassar College and a Master of Science in Business degree from Johns Hopkins University.