Max Neeman Orphan Disease Experience

1. Orphan Disease Expertise

2. 2
Orphan/Rare Diseases
Definitions
 Diseases affecting a small percentage of the population
 The World Health Organization – Pathological conditions affecting 0.65-1 out of every 1000 inhabitants
 European Union – Diseases with a prevalence of 5:10,000 Europeans
 USA – Ailment affecting fewer than 2,00,000 Americans (with an incidence of less than 1/5,000 in the general population)
 Japan – Disease affecting less than 50,000 Japanese patients (or 1 in 5000 general population)
 Australia – Disease affecting less than 2000 Australian patients
 Ultra orphan disease - prevalence of less than 0.18 case per 10,000 population
 5,000 and 7,000 distinct rare diseases*
 80% of rare diseases – Genetic origin
 20% of rare diseases – Other causes (infections/ allergies/ degenerative/ proliferative)
 Orphan Drugs – Drugs for treatment of orphan diseases

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MNI Therapeutic Experience
Orphan / Rare Diseases
 Hemophilia
 Multiple Myeloma
 Multiple Sclerosis
 Huntington’s Disease
 Gaucher’s Disease
 Fabry’s Disease
 Duchenne Muscular Dystrophy
To learn more about our Therapeutic Specific Reporting, contact Ann Vawter: 919.424.3332

4. 4
Hemophilia
Recessive X –linked bleeding disorder
Clotting factor deficiency
Affects males; females are carriers
Hemophilia A (Classical Hemophilia)
Clotting factor VIII deficiency
1 in 5,000–10,000 male births (80%)
Hemophilia B (Christmas Disease)
Clotting Factor IX deficiency
1 in about 20,000 - 34,000 male births (20%)
 1330 hemophilic children are born every year in India*
*Indian Council of Medical Research
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

5. 5
Multiple Myeloma
Cancer of plasma cells
Incidence - 1 to 4 per 100,000 people per year
More common in men
Most common primary malignant tumor of the bone; about 27% of biopsied bone tumors
Second most common hematological malignancy (13%)
Constitutes 1% of all cancers
5 year survival rate
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

6. 6
Multiple Sclerosis (MS)
Nervous system disease affecting brain and spinal cord
(myelin sheath damage)
Optico-spinal phenotype (attacks are mostly confined to optic
nerve and spinal cord) – more prevalent in India
Prevalence in Indian subcontinent - 1.3/100,000
Highest incidence in Parsi community of India
HLA-B12 associations - highly reported in Parsi community of India
Maximum cases between 3rd and 4th decade
Cognitive dysfunction in MS - 40 to 60%
0.32 to 1.58% of neurology admissions in Indian hospitals
Hospital in patient statistics in India - Approx fourfold increase in admitted MS cases over the last decade
Increase in MS diagnosis
Increasing awareness of medical illnesses,
Availability of modern investigative facilities (MRI, evoked potential studies and immunoglobulin estimation)
Expanding neurological services in India
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

7. 7
Huntington’s Disease
Rare, incurable, adult-onset, autosomal dominant inherited disorder
Cell loss within a specific subset of neurons in the basal ganglia and cortex
Characterized by involuntary movements (chorea), dementia, and behavioral changes
Worldwide prevalence - 5-10 cases per 100,000 persons
Juvenile HD – 10% of all the cases
Life expectancy - approx 20 years following the onset of visible symptoms
Associated morbidity – pneumonia, heart diseases, psychiatric disorders (suicide)
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

8. 8
Gaucher’s Disease
Most common lysosomal (lipid) storage disorder
Inborn error of metabolism; autosomal recessive
Deficiency of the enzyme glucocerebrosidase
Three main types
Type I – Non neuronopathic (Most Common)
Type II - Acute Neuronopathic
Type III - Chronic Neuronopathic
Rare in the non-Jewish population - 1 per 40,000 population
In Jewish people of eastern European origin
Carrier frequency -1 per 15 population
Disease frequency - 1 per 855 population
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

9. 9
Fabry’s Disease
X linked recessive disorder
Deficiency of the enzyme alpha galactosidase A
Clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system
Estimated incidence –
1 in 40,000 males
1 in 117,000 in the general population
Death - by 4th or 5th decade of life (renal failure, heart failure, or strokes)
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

10. 10
Duchenne Muscular Dystrophy (DMD)
Most common Muscular Dystrophy
Severe Recessive X-Linked Disorder
Characterized by Muscle Weakness
Affects one in 3500 males
Caused by mutations in the dystrophin gene –
Deletions (60-65%)
point mutations (30-40%)
duplications (5-6%)
Deletion rate reported in Indian studies – 63-74%
Contact Ann Vawter to learn about our Therapeutic Specific Report - P: 919.424.3332

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To Learn More
Contact Information: Ann Vawter
Director, Business & Marketing
Max Neeman International
117 Edinburgh South Dr., Ste 105
Cary, NC 27511
P: 919.424.3332 / F: 919.852.5574
E: ann.vawter@neeman-medical.com
www.neeman-medical.com