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FOP: Prevalence, Treatments, and Life Expectancy

Fibrodysplasia Ossificans Progressiva (FOP) has a median life expectancy of 40 years, with a wide variation due to potential genetic factors. The most common cause of death is cardiorespiratory failure, and currently, there is no approved treatment, although three drugs are in development targeting gene expression. Clinical trials are underway for therapies like Garetosmab, Palovarotene, and BLU-782, which aim to mitigate excessive bone growth associated with the disease.

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36 views9 pages

FOP: Prevalence, Treatments, and Life Expectancy

Fibrodysplasia Ossificans Progressiva (FOP) has a median life expectancy of 40 years, with a wide variation due to potential genetic factors. The most common cause of death is cardiorespiratory failure, and currently, there is no approved treatment, although three drugs are in development targeting gene expression. Clinical trials are underway for therapies like Garetosmab, Palovarotene, and BLU-782, which aim to mitigate excessive bone growth associated with the disease.

Uploaded by

nvincecr
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd

Fibrodysplasia

Ossificans
Progressiva (FOP)

• Prevalance and Penetrance


• Treatment
• Disease on Display
Prevalence and Penetrance
Life expectancy

• Median life expectancy: 40 years

• Wide variation in life span: 3-77 years old suggests other genes
may be aff ecting the expression of the ACVR1/ALK2 receptor
mutation
Prevalence and Penetrance
Quality of Life
• Most common cause of death: Cardiorespiratory failure from thoracic
insuffi ciency syndrome
• Cardiorespiratory failure: insuffi cient oxygen or excess carbon
dioxide in the lungs
• Thoracic Insuffi ciency syndrome : condition in which the chest walls
do not properly support normal respiration commonly caused by a
number of spinal deformities
• In most cases, the nodules transform into bone during a process
known as heterotopic ossifi cation. When the body starts to generate
new bone, the patient usually experiences a painful fl are-up. Tissue
swelling, joint stiff ness and serious discomfort can occur. Some may
have a low-grade fever.
Prevalence and Penetrance
Tr e a t m e n t
• Currently, there is no approved treatment for the disease.

• There are 3 drugs in development which act during various points of


gene expression.
Regeneron Pharmaceuticals: Garetosmab Therapy:
Prevalence and Penetrance
Tr e a t m e n t

• Activin A blocker

• IV infusion now in clinical trials

• Garetosmab is an antibody that blocks Activin A.

Activin A is a protein that plays a role in tissue homeostasis. In healthy


individuals, it prevents the FOP gene (ALK-2) from growing bone.

In FOP patients, it serves the opposite purpose and caused excessive

bone growth.
Prevalence and Penetrance
Tr e a t m e n t
• Clementia Pharmaceuticals: Palovarotene (oral)

• Interrupts the middle part of that process, targeting a receptor key to


cartilage

formation.

• In a 12-week study, patients who took palovarotene during FOP

fl are-ups saw about 70 percent less new bone growth than those on

placebo.
Prevalence and Penetrance
Blueprint Medicines: BLU-782 Pill (oral)
Tr e a t m e n t

• BLU-782 is meant to mute ALK-2’s activity before it has the chance to


bind to Activin A.

• Targeting the genetic mutation responsible for a disease seems


obvious, but previous attempts to shut off ALK-2 ran into a simple
problem: The mutant gene. looks quite a bit like its DNA
neighbors, meaning an imprecise drug would wreak havoc
on patients by interrupting necessary processes
Prevalence and Penetrance
Blueprint Medicines: BLU-782 Pill (oral)
Tr e a t m e n t

• BLU-782 is meant to mute ALK-2’s activity before it has the chance to


bind to Activin A.

• Targeting the genetic mutation responsible for a disease seems


obvious, but previous attempts to shut off ALK-2 ran into a simple
problem: The mutant gene. looks quite a bit like its DNA
neighbors, meaning an imprecise drug would wreak havoc
on patients by interrupting necessary processes

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