Orphan Diseases ECD Global Alliance October 2010.

Orphan Diseases

ECD Global AllianceOctober 2010

What is an Orphan Disease?

• A Disease Affecting So Few People That:– There is no reasonable expectation that the cost of

developing and making available a drug for such disease or condition will be recovered from sales

• Therefore:– It is Not Cost Effective to Spend Money on Research – It has been Virtually Ignored with Little Medical

Attention or Other Support

• Otherwise Known as a Rare Disease

Definition of Rare Disease• Affects Less Than 200,000 People

in US

• A Doctor in a Busy Practice Would Expect to See Less Than 1 Case per Year

• 7000 Known Rare Diseases

• 85 to 90% are Chronic, Serious or Life Threatening

• 80% are Genetic

• Although Each Rare Disease is Rare, Rare Diseases are NOT Rare

Obtained From the National Organization of Rare Diseases (NORD)

Who is Affected?

• About 1 in 10 People in the US Have a Rare Disease

• Typically Specific Age Groups (e.g., children or over 40’s)

• Patients, Families, Friends, Medical Staff, Society

• No Disease is Rare When it Strikes Someone You Love

First a Diagnosis is Needed

• “When you hear hoofbeats, think horses, not zebras”

• Specialists Often Only Know What it is Not

• Doctors have Not Seen or Studied Many of the Rare Diseases

• Often Patients Find the Validity of Their Symptoms Being Questioned

• Diagnosis Often Takes Years with Patients Shuffled from One Specialist to Another

• No “Diagnostician” Specialty

What Are the Patient Issues?• Sickness Itself• Getting a Diagnosis• Finding Knowledgeable Doctors• No Agreement on Best Treatments• Health Care Costs / Insurance Coverage

– Expert Doctors Most Likely Out of Network– Treatments not Scientifically Verified

• Transportation / Housing Costs• Disability Difficult to Obtain• Lack of Support Structure• Lack of Information Relative to

Progression

How Does the Patient Feel?

• "I just want to know what is wrong with me so I can fight it." - Jock, 48 year old undiagnosed patient, weeks before his death

• “Some days I wish I had cancer…When you have a disease like mine, you don’t fall through the cracks in the system, you fall through a gaping abyss.” – Mark Screiber, 46 year old with Aplastic anemiaNewsweek, April, 2008

• “Alone”

• “In a Nightmare”

• “Abandoned by the Medical Profession”

• “An Exercise in Patience”

How Does the Caregiver Feel?

• Scared

• Helpless

• Exhausted

• Family Stress

• “Having dealt with his diagnosed, and later his undiagnosed, health problems I can say the latter is so much worse and I still find it unbelievable that he died” - 33 year old caregiver, 2 yrs after undiagnosed death of spouse who was a successful lung-transplant recipient

What Must It Be Like for a Doctor?

• Taught to Think “Horses” When Hoof beats are Heard;Maybe a “Zebra”

• Frustrating

• Time Consuming

• Humbling

• Doctors are Trained to Help People

Is There Hope?

• Yes, But Much Needs to be Done

• Successful Treatments are Being Developed

• More Support Organizations Available• Internet Allows Patients to Find Each Other, Share Information

and Promote Research

• NORD – National Organization for Rare Disorderswww.rarediseases.org

• Clinical Trials – www.clinicaltrials.gov

• National Institute of Health (NIH) – www.nih.gov

• New Legislation in Place to Help with Research Funding and Approvals

A Little History

1990 2002 2008

Total of 10 Treatments

Developed for ALL Rare Diseases

1973 1983

Orphan Drug Act Giving

Drug Manufacturers

Incentives

Safe Medical

Devices Act

Rare Disease Act Enabling NIH Office of

Rare Diseases

(ORD)

NIH Undiagnosed

Disease Program

1800+ Products Entered Pipeline; 350 Approved

2010

• Genome Studies

• Personalized Medicine– “It’s all about me!”

• Research Focus on Disease Similarities Rather than Disease Specific

Changes Underway

A Specific Disease – Erdheim-Chester Disease

• Too Many Histiocytes (cells which normally fight infections)

• Can Infiltrate All or Some Organs– Bone, Brain, Kidney, Eyes, Lungs, Abdominal Tissue/Organs,

Cardiovascular, Skin and More Rarely Others

• Causes Scar-Like Tissue to Surround the Organs & Arteries

• Symptoms Vary Between Patients Depending on Which Organs are Involved

• Can be Extremely Painful; Causes Extreme Fatigue

• Without Successful Treatment: Organ Failure

ECD is an Extremely Rare Disease

• First Described in 1930 by Two Pathologists- Chester(American) and Erdheim (Austrian)

• Only About 300 Published Cases in the World

• Never Even Heard of by Most Doctors

• Diagnosis is Difficult and Time Consuming, Made Only by Chance in Some Cases

• No Classification - More Like “Homeless Orphan” Disease

What is the Status of ECD?

• VERY Few Doctors Have Heard of It, Fewer Have Treated It, Only a Handful Have Treated Multiple Cases

• Anecdotal Treatments Available

– Immunotherapy, chemotherapy, radiation, surgery, hormone therapy, corticosteroids, anti-inflammatory drugs, antimetobolite, new cancer drug which specifically inhibits a particular enzyme

• Results are Variable

• Literature says most succumb in 2 to 3 years; I’ve met people who have been diagnosed for 22, 18, and 13 years

• International Disease Advocacy Group Formed –ECD Global Alliance – www.erdheim-chester.org

Status of the ECD Global Alliance

Carol, Kathy, RuthAnn Met

by Phone

First Online Chat

Session Held

Published www.erdheim-chester.org

website

Teleconference with ECD

Patients and Dr. Kurzrock

First Newsletter Published

501(c)(3) Non-Profit Paperwork

Submitted & Board of Directors Formed

Jan. ‘08

Apr. ‘08

Sep. ‘08

Oct. ‘08

Oct. ‘08

Jan. ‘09

Apr. ‘09

Aug. ‘09

Dr. Vaglio’s Treatment Protocol

Communicated

Dr. Haroche’s HLA Study

Communicated

Organizational Activity Support Activity Bringing Information to Patients

Medical Advisory

Board Formed

Dec. ‘09

501(c)(3) Tax Exempt

Status Granted,

Effective as of Aug. 28,

2009

Mar. ‘10

Promoting Research

Apr. ‘10

RFP for Research

Project Communicated

ECD Global AllianceFuture Steps

• Continue Dialogue with Research Physicians

• Raise Additional Research Funds

• Future ECD Symposium

• Possible Registry

• Support for Patients with Regardto Disability and Other RelatedIssues

What I Learned

YouResponsible for:•Communicating

•Up-to-Date Records•Keeping Team Focused

Treating Doctors

ResearchersAdvocacyGroups

Family,Friends, &

Faith

What Advice Would I Give Another?

• KEEP RECORDS UP-TO-DATE

• Solicit General Doctor to Coordinate Care

• Communicate

• Do Your Own Research; Be Persistent

• Insurance

• Ask for What You Need and Expect It

What Can We All Do?

• Be Supportive

• Be an Advocate– Find a Doctor Who Specializes in the

Specific Disease– Find a Support Organization Online– www.pubmed.gov

– www.clinicaltrials.gov

• Be Generous

• Be an Organ Donor

Questions?

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