What is a rare disease?

1 in 10 people are affected by a RARE disease. (Global Genes)

Worldwide, there are 400 million people living with a rare disease. (Global Genes)

There are 10,000+ Distinct types of Rare and Genetic Diseases. (Global Genes)

8 in 10 Rare diseases are genetic. (Global Genes)

75% of all rare diseases affect children. (EURODIS)

70% of people with rare diseases wait more than 1 year to get a confirmed diagnosis after coming to medical attention. (EURODIS)

95% of rare diseases are still without an FDA-approved treatment. (Global Genes)

PLAN (PLA2G6-Associated Neurodegeneration) is an ultra-rare disease, with an estimated 5,200 cases globally, primarily affecting young children.₁

What is PLA2G6-associated neurodegeneration (PLAN)?

PLAN is an ultra-rare degenerative disorder of the nervous system characterized by abnormalities of nerve endings. It is an autosomal recessive genetic condition caused by changes in the PLA2G6 gene.

What does the PLA2G6 gene do?

Tells the body’s cells how to make A2 phospholipase, an enzyme that breaks down & recycles certain fats known as lipids.

What does “autosomal recessive” mean?

Autosomal recessive is a pattern of inheritance. If a parent has an autosomal recessive trait, they’ll show no symptoms. To pass it on to their children, both parents need to carry the trait. But because they don’t have any symptoms, they usually don’t even know they have it.

Both parents must pass an altered gene onto their child for him/her to inherit the genetic condition or trait in an autosomal recessive pattern.

If both parents have an autosomal recessive gene there is a:

What are the 3 PLAN phenotypes?

Infantile Neuroaxonal Dystrophy (INAD)/Infantile PLAN

Atypical Neuroaxonal Dystrophy (ANAD)/Juvenile PLAN

Adult-Onset Dystonia-Parkinson (DP)/PLAN-DP

What is the difference in these phenotypes?

While there is a lot of overlap in symptoms, each subtype is characterized by age of onset and speed of disease progression.

What are the symptoms of INAD?

What are the symptoms of ANAD?

What are the symptoms of DP?

Are there any treatments to slow or stop the progression of this devastating disease?

No!

Why are we/am I fundraising for INADcure’s gene therapy program?

What is the INADcure Foundation’s Mission?

The INADcure Foundation is a 501(c)3 nonprofit charity whose mission is to support the development of treatments, including a cure, for Infantile Neuroaxonal Dystrophy (INAD) and other forms of PLA2G6-related neurodegeneration (PLAN).

If I donate to the INADcure Foundation, where does my money go?

The INADcure Foundation believes that financial transparency and accountability are a top priority. Please go to https://inadcure.org/financials/ to view our Form 990s.

Will my donation be tax deductible?

INADcure Foundation is a 501(c)3 tax-exempt organization and your donation is tax-deductible within the guidelines of U.S. law. To claim a donation as a deduction on your U.S. taxes, please keep your email donation receipt as your official record.

Where can I learn more about INADcure’s Gene Therapy Program?

Please see our Gene Therapy Fundraising FAQ.