Treatment and Management Strategies

There is currently no cure for FOP. Existing treatments aim to manage symptoms and prevent complications. However, ongoing clinical trials are exploring potential treatment options.

See below for treatments/management strategies for FOP .

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Pain Relieving Treatments

NSAIDSs (Non-steroidal Anti-Inflammatory Drugs): reduce inflammation and discomfort - eg. ibuprofen or naproxen
Corticosteroids: reduce inflammation during the early stages of a flare-ups. These are only prescribed for short periods to limit its side effects
Opioid pain relievers: for severe pain, only when absolutely necessary due to potential addiction

Flare-ups Prevention Strategies

Since FOP can be triggered by even minor physical trauma, patients must take many precautions including:

minimizing falls and injuries
excessive stretching
avoid contact sports
avoid intramuscular injections/surgeries
take preventative vaccines and antibiotics for infections

Physical Therapy

Physical Therapy is a controversial management strategy for FOP. While it is helpful with preventing stiffness, excessive movements can lead to even further ossifications.

Source: Wix.com

Ongoing Drug Trials and Research

There are currently no approved drugs for FOP, but research is ongoing to develop treatments that may slow or halt its progression. Below are four key drugs currently in clinical trials, some targeting the BMP (Bone Morphogenetic Protein) pathway, while others aim to block ACVR1 mutant activity.

Fidrisertib

It is a small molecule that targets the ACVR1 mutation directly. It inhibits that receptor of ACVR1 (ALK2) and therefore, inhibit its activity
Currently in phase II trials

Palovarotene

This drug was originally made for lung disease. However, it actually helps regulate the overactive BMP signalling pathways.
Palovarotene shows some reduction in extra bone growth.
A drawback of this drug is that it might have some growth plate issues in children; therefore, it is still under evaluations.

Garetosmab

Garetosmab blocks Activin A, which is a protein that interacts with ACVR1 gene and trigger abnormal bone growth
A very promising drug because it significantly reduces new bone growth and flare ups

Saracatinib

Originally developed for cancer
It blocks certain signalling pathways that contribute to FOP progression

Source: DALL-E AI Image Generator

Future Prospects: Gene Therapy and FOP

Gene therapy for FOP is still in the early stages of research and has not yet reached clinical trials . However, many approaches are being explored.

1. Gene Silencing

This strategy uses small interfering RNAs (siRNAs) to silence the mutated ACVR1 gene. By blocking the production of the abnormal ACVR1 protein, it may help prevent excessive bone growth.

2. Gene Replacement Therapy

This approach aims to replace the mutated ACVR1 gene with a healthy copy, potentially using viral vectors such as adeno-associated viruses (AAVs) .

3. CRISPR/Cas9 Gene Editing

CRISPR technology could be used to precisely remove the mutated section of the ACVR1 gene and replace it with a normal sequence. However, safety concerns regarding gene editing in humans remain a significant challenge .

Morbidity and Mortality

Morbidity - Living with FOP

FOP is a progressive and has limited treatment options, therefore, living with FOP is extremely challenging .

Patients living with FOP can have:

Mobility issues
- This can severely limit a person’s ability to do day-to-day activities
- Mobility issues arise from abnormal ossifications and can lead to postural and positioning difficulties of the arms and legs
FOP flare ups
- A “flare up” is an inflammatory process that occurs in those with FOP
- It can be extremely painful, and can lasts from days to even weeks
- Flare ups can happen spontaneously or after trauma
- Cause of spontaneous flare-ups are unknown
Respiratory and Nutritional Issues
- FOP can progress to result in jaw ossifications. This can lead to difficulty eating and ultimately can result in poor overall nutrition.
- FOP can also progress to thoracic ossifications. This can restrict the ability of lungs to expand, and cause further complications such as respiratory failure

Mortality

the median life span is expected to be around 56 years of age
the common cause of death in FOP patients is cardiorespiratory failure

Knowledge Check
Questions

Question 1. What is the primary focus of FOP treatment?

A) Curing the disease

B) Managing symptoms and preventing complications

C) Stimulating bone growth

D) Increasing calcium intake

Question 2. Which of the following medications can help manage pain in FOP patients?

A) NSAIDs like ibuprofen

B) Corticosteroids for long-term use

C) Growth hormone injections

D) Antibiotics

Question 3. Why is Palovarotene being studied for FOP treatment despite originally being developed for lung disease?

A) It promotes rapid bone formation

B) It enhances the function of the ACVR1 gene

C) It helps regulate BMP signaling, which is overactive in FOP

D) It prevents infections in FOP patients

Question 4. True or False.

There is currently no cure for FOP.

Question 5. True or False.

Physical therapy is universally recommended for FOP patients without any risks.

Question 6. What factor contributes to difficulty eating in individuals with FOP?

A) Loss of appetite due to medication side effects

B) Jaw ossification that limits movement

C) Increased metabolic rate leading to higher nutritional needs

D) Inflammation in the digestive system

Question 7. True or False.

FOP flare-ups can happen either spontaneously or as a result of trauma.

Question 8. True or False.

The median lifespan of an individual with FOP is approximately 56 years.

Answers