Translarna: A Treatment for Duchenne Muscular Dystrophy

Translarna (ataluren) is a groundbreaking medication that has emerged as a beacon of hope for individuals battling Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes progressive muscle weakness and wasting. This remarkable therapy, the first approved for DMD in the United States, has the potential to significantly impact the lives of those affected by this debilitating condition.

FDA Details

Approval Date: September 19, 2016

Drug Class: Orphan drug

Generic Name: Ataluren

Brand Name: Translarna

Manufacturer: PTC Therapeutics

Strength: Translarna  250 mg, 125 mg, and 1000 mg granules

Indication and Usage

Translarna is indicated for the treatment of DMD in patients who have a nonsense mutation in the dystrophin gene. Nonsense mutations disrupt the normal reading of the genetic code, preventing the production of a functional dystrophin protein, which is essential for muscle function.

Dosage and Administration

Translarna is available as granules that are mixed with liquid or semisolid food, such as yogurt or applesauce. The recommended dose is 10 mg/kg (10 mg per kilogram of body weight) three times a day, for a total daily dose of 30 mg/kg. This medicine is available in 3 strengths, each containing Translarna 250 mg, 125 mg, and 1000 mg. 

Warnings and Precautions

• Elevated liver enzymes: Translarna can cause elevations in liver enzymes. Patients should have regular liver function tests while taking Translarna.
• Decreased white blood cell count: Translarna can cause a decrease in white blood cell count, which can increase the risk of infection. Patients should be monitored for signs of infection, such as fever, chills, and sore throat.
• Neuropathy: Translarna can cause neuropathy, a condition that damages the nerves. Symptoms of neuropathy can include numbness, tingling, and pain in the hands and feet.
• Infusionrelated reactions: Translarna can cause infusionrelated reactions, such as fever, chills, nausea, and vomiting. These reactions are usually mild and go away on their own.

Contraindications

• Translarna is contraindicated in patients with a history of hypersensitivity to ataluren or any of the other ingredients in the medication.
• Do not give this medicine to children under the age of 2 years or weighing less than 12 kg as it has not been tested in this group of patients.

Drug Interactions

Inform your doctor about any current, recent, or potential use of other medications, especially avoiding the concurrent use of Translarna with injected antibiotics like gentamicin, tobramycin, or streptomycin, as they may impact kidney function.

Common Side Effects of Translarna

•  Decreased appetite
•  Vomiting
•  High blood triglyceride levels
•  Headache
•  Feeling sick
•  Weight loss
•  High blood pressure
•  Cough
•  Nosebleed
•  Constipation
•  Wind
•  Stomach discomfort
•  Stomach pain
•  Rash
•  Arm or leg pain
•  Chest pain
•  Involuntary urination
•  Blood in urine
•  Fever

Use in Specific Populations

• Pregnancy: The use of ataluren in pregnant women lacks adequate data. Therefore, its safety during pregnancy is uncertain.

• Breastfeeding: It is unknown whether ataluren or its metabolites are excreted in human milk. As a precautionary measure, breastfeeding should be discontinued during the treatment with ataluren.

• Fertility: Nonclinical data, based on a standard male and female fertility study in rats, revealed no hazards for humans.

• Children: Translarna has been demonstrated to be safe and effective for use in children aged 2 years and older.

• Adults: Translarna is considered safe and effective for use in adults.

• Elder: The safety and efficacy of ataluren in patients aged 65 and older have not yet been established.

• Renal Impairment: No dosage adjustment is necessary for patients with mild or moderate renal impairment. However, treatment of patients with severe renal impairment (eGFR <30 ml/min) or endstage renal disease is not recommended.

• Hepatic Impairment: No dosage adjustment is required for patients with mild, moderate, or severe hepatic impairment.

Effects on Ability to Drive and Use Machines:

Ataluren’s effect on driving, cycling, or using machines hasn’t been specifically tested. Patients experiencing dizziness should exercise caution during activities requiring focus and coordination, like driving or operating machinery.

Conclusion

Translarna represents a significant advancement in the treatment of DMD, offering a glimmer of hope for individuals battling this challenging condition. While further research is needed to fully understand its longterm effects, Translarna has the potential to improve the lives of those affected by DMD.

FAQ: 

What is Translarna used for?

Translarna (ataluren) is used to treat Duchenne muscular dystrophy (DMD) caused by a specific genetic mutation. It is designed for patients aged 2 years and older.

Is Translarna safe for children and adults?

Yes, Translarna is considered safe and effective for use in both children (aged 2 years and older) and adults.

How does Translarna work? 

Translarna (ataluren) enables protein synthesis by addressing premature stop signals, known as nonsense mutations, in genetic disorders. It allows cells to read through these stops, promoting the production of complete and functional proteins to alleviate associated symptoms.

What is the available form of Translarna?

Translarna is available in the form of oral granules, which are intended to be mixed with a small amount of soft food or liquid and consumed. This formulation is designed to make administration more convenient, especially for individuals who may have difficulty swallowing traditional tablets or capsules.

How to store Translarna?

Store Translarna out of children’s reach. It doesn’t necessitate specific storage conditions. Consume each prepared dose promptly after preparation. Discard any prepared dose not taken within 24 hours if refrigerated (2 – 8 °C) or within 3 hours at room temperature (15  30 °C).

How to buy Translarna online ? 

To buy Translarna online, contact SANSFRO or similar specialized pharmaceutical procurement companies that facilitate medicine importation from regions like the US and Europe. The availability and pricing of Translarna are influenced by various factors. For precise information tailored to the Indian market, reach out to the dedicated Patient Support Team at (+91) 93157 05373 or help@sansfro.com.

What is the Translarna price?

Several factors and product specifications decide the Translarna price. Please contact our Patient Support Team at (91) 93157 05373 or via email at help@sansfro.com for exact pricing information. You can get uptodate, precise cost information for Translarna in the Indian market from our team.

Reference: 

1. https://www.ema.europa.eu/en/documents/productinformation/translarnaeparproductinformation_en.pdf
2. https://www.drugs.com/history/translarna.html