Learn About Niemann-Pick Type C

Niemann-Pick Type C (NPC) is a fatal, genetic disorder affecting children and adults, approximately 1:100,000 births. There are no FDA approved treatments. It's commonly referred to as "Childhood Alzheimer's".

How do you get NPC?

Everyone has two NPC genes that, if working correctly, help cells move and dispose of naturally occurring cholesterol in the body. In most people, both of these genes work properly. In NPC carriers, only one gene works normally. Because carriers are symptom free, we had no idea Marian was at risk. Should both parents carry a faulty gene, there is a 1 in 4 chance their child will suffer from NPC.

What happens next? 

The age of onset of NPC symptoms varies widely. Signs can appear at any age, from birth to adulthood. Generally, the earlier neurological signs appear, the faster the disease progresses, which compromises quality of life and leads to death.  

 

What will NPC do to children and adults without medicine to slow or stop the disease progression?

 

Months or years after an enlarged spleen and/or liver develop, neurological symptoms unfold as the disease progresses. An active child slowly begins struggling with balance and coordination: falling down progresses to an inability to walk, sit, lift the arms, nod the head, and finally the heartbreak of not being able to move at all. Difficulty in swallowing will follow, leading to choking and feeding tubes, frequent hospitalizations and vulnerability to pneumonia. 

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Loss of short term memory will begin and will lead to learning delays—children and adults lose the ability to read and write. Patients can forget when they've eaten and where they are.

 

Dementia often follows. Speech becomes slurred and slips away over time. Hearing loss develops and worsens, and the child's ability to control eye movement fails. Seizures often develop, some so frequent they run together—for days on end. Ultimately, NPC children endure years of suffering as their bodies, mobility, speech, and memory fails them, despite everything they are doing to hold on. 

We Need Your Help: Time Is of the Essence 

NPC is always fatal. Without medicine, half of NPC patients won't live to see age 10, some won't live to see the age of 5.

Two things are certain to the NPC community: 

1. Time cannot be wasted. Without treatment, our loved ones – NPC patients – will decline. Decline will result in permanent and irreversible damage, decreasing the quality of life, ultimately causing death. 

2. Experimental treatments work and need to remain available. We are at risk of losing the two main medicines that slow the progression.

This generation of patients with NPC can be saved while continuing to advance science. 

Lives are hanging in the balance.

Your choice to support NPC patient access today may be the difference.

Save Our Medicine Campaign

The past two years have been particularly challenging. We now have two existing investigational treatments for NPC that can be removed from patients at any time.

 

Both patients and their doctors find these medicines beneficial. We need to ensure continued access to these medications. 

Recent hurdles have included:

 

• Clinical holds of one therapy 

• Adrabetadex Expanded Access Program (EAP) closed to all new patients by Mallinckrodt in January 2021 

• After Mallinckrodt agreed to provide medicine and allow patients into EAP in May 2021, FDA put the  Adrabetadex EAP on partial clinical hold in June 2021 with limited patients allowed access, and threat of termination by June 2022 

• FDA turned down approval for a second treatment, Arimoclomol, on June 17, 2021, making continued access to this treatment uncertain

• Lack of clarity regarding pathway forward to save existing medicines

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Advancing Science and Saving Today's Patients, How to Help

Ten years ago, NPC was a death sentence. Phenomenal entities and individuals fought to change this. It is working. There is more promise to treat NPC today than in the entire history of the disease. But, for children and adults to live, this work needs to be accelerated and existing medicines need to be saved. Their lives depend on how quickly and effectively we can act. 

All current donations to Hope For Marian Foundation will go to our Save Our Medicine campaign, which will  work to save access to existing experimental medicines. Patients' lives depend on continued access to these treatments. 
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