Fast Facts and Sharable Graphics for PLAN Awareness

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Fast Facts and Sharable Graphics for PLAN Awareness

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Rare Disease

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What is a rare disease?

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

In the US, a disease is considered RARE if less than 200,000 people are affected. (NORD)

In Europe, a disease is considered rare when it affects no more than 1 person in 2,000. (EURODIS)

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

USA: Estimated 25-30 million individuals (NORD)

Europe: Estimated 30 million individuals (EURODIS)

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)

3 of 10 Children with a rare disease won’t live to see their 5th birthday.

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

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PLA2G6-Associated Neurodegeneration (PLAN)

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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.

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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.

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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:

25% chance that they will pass on their recessive PLA2G6 gene and have a child with PLAN,

50% chance that the child will be a carrier like his/her parents, and

25% chance that the child will not have PLAN or be a carrier.

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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

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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.

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Infantile Neuroaxonal Dytrophy (INAD) / Infantile PLAN

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What are the symptoms of INAD?

Typical child development for the first 6 months to 2-3 years

Changes in eye function: rapid wobbly movements (Nystagmus) and/or misaligned/crossed eyes (Strabismus)

Rapid loss of acquired skills such as walking, crawling, & sitting due to low muscle tone (Hypotonia)

Progresses to muscle stiffness in all four limbs, yet a “floppy” neck (Spastic Quadriplegia)

Abilities to see, speak, swallow, and breathe become impaired. These children are at higher risk for respiratory and urinary tract infections, and seizures are possible.

As the disease progresses, children will often require feeding tubes, supplemental oxygen, and/or BiPap machines.

Unfortunately, the average life expectancy for a child afflicted with INAD is 5 to 10 years.

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Atypical Neuroaxonal Dystrophy (ANAD) / Juvenile PLAN

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What are the symptoms of ANAD?

Children initially follow a typical developmental trajectory but begin to exhibit symptoms between the ages of 4 and late adolescence.

The initial symptoms commonly include delayed speech, difficulty in walking, and traits associated with autism.

In addition to involuntary muscle contractions and difficulty speaking, children with ANAD experience muscle tightness in their arms and legs and reduced joint mobility. They also experience neuropsychiatric symptoms such as poor attention span, impulsivity, hyperactivity, and rapid exaggerated changes in mood.

As with INAD, children afflicted with ANAD often have visual, bladder, and bowel problems, and seizures are possible.

ANAD is rarer than INAD and has an undetermined lifespan. However, it is presumed to exceed that of INAD, which ranges from 5 to 10 years, due to its later symptom onset and more gradual disease progression.

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

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What are the symptoms of DP?

Typical birth and early childhood development

Onset in young adulthood

Parkinsonism: tremors, rigidity, and Bradykinesia (slow movements),

Dystonia (a movement disorder that causes the muscles to contract involuntarily)

Poor balance and gait instability

Marked cognitive decline and neuropsychiatric changes

Dysarthria (difficulty speaking due to weak muscles),

Autonomic involvement (cold hands and feet, difficulty regulating body temperature, constipation)

The expected lifespan remains undetermined; however, it is anticipated to surpass that of either INAD or ANAD, given the later onset of symptoms and the slower progression of the disease.

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PLAN Treatments and Why We're Fundraising

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

No!

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

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

Gene therapy has the potential to significantly alter the course of PLAN, a fatal disease for which there is currently no cure or treatment that can slow or stop its progression.

Pharmaceutical and biotech companies are less likely to invest in trials for drugs or gene therapies for ultra-rare diseases because of the limited financial incentives associated with such small patient populations.

We need $6M dollars to reach our Miracle (initiating the first PLAN gene therapy clinical trial in 2025)

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About INADcure & Your Donations

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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).

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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.

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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.

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

Please see our Gene Therapy Fundraising FAQ.

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Footnotes:
₁Pre-print of PLAN prevalence study

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