Orfadin 2mg Capsules

Manufacturer SOBI Active Ingredient Nitisinone Capsules(ni TIS i known) Pronunciation ni TIS i known
It is used to treat hereditary tyrosinemia type 1 (HT-1).
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Drug Class
Enzyme inhibitor
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Pharmacologic Class
4-hydroxyphenylpyruvate dioxygenase (HPPD) inhibitor
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Pregnancy Category
C
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FDA Approved
Jan 2002
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DEA Schedule
Not Controlled

Overview

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What is this medicine?

Orfadin (nitisinone) is a medication used to treat a rare genetic disorder called hereditary tyrosinemia type 1 (HT-1). In HT-1, the body cannot properly break down a protein building block called tyrosine, leading to the buildup of harmful substances. Nitisinone works by blocking an enzyme that helps make these harmful substances, thereby preventing damage to the liver, kidneys, and nervous system. It must be taken along with a special low-tyrosine and low-phenylalanine diet.
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How to Use This Medicine

Taking Your Medication Correctly

To get the most benefit from your medication, follow your doctor's instructions carefully. Read all the information provided to you and follow the instructions closely. Take your medication on an empty stomach, either 1 hour before or 2 hours after meals. Continue taking your medication as directed by your doctor or healthcare provider, even if you start to feel well.

If you have trouble swallowing the capsules, you can open them and mix the contents with a small amount of water, formula, or applesauce. If you mix the medication with one of these substances, be sure to swallow it right away. Do not store the mixture for later use.

Storing and Disposing of Your Medication

Different brands of this medication may have specific storage instructions. Some brands should be stored in the refrigerator, but do not freeze. If you need to store the medication at room temperature, it can be kept at a temperature up to 77°F (25°C) for up to 45 days. If you store the medication at room temperature and do not use it within 45 days, discard it. Other brands can be stored at room temperature in a dry place, but not in the bathroom. Make sure you understand how to store your specific brand of medication. If you have any questions, ask your pharmacist.

What to Do If You Miss a Dose

If you miss a dose, take it as soon as you remember. However, if it is close to the time for your next dose, skip the missed dose and return to your regular schedule. Do not take two doses at the same time or take extra doses.
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Lifestyle & Tips

  • Strict adherence to a low-tyrosine and low-phenylalanine diet is crucial for the effectiveness and safety of nitisinone. This diet must be maintained for life.
  • Regular follow-up appointments and blood tests are essential to monitor tyrosine levels, succinylacetone levels, and overall health.
  • Report any new or worsening symptoms, especially eye problems (like sensitivity to light or blurred vision), skin changes, or unusual bleeding/bruising, to your doctor immediately.
  • Wear sunglasses if you experience increased sensitivity to light (photophobia).

Dosing & Administration

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Adult Dosing

Standard Dose: Initial dose: 0.5 mg/kg once daily. Adjust based on succinylacetone levels and tyrosine levels.
Dose Range: 0.5 - 2 mg

Condition-Specific Dosing:

Hereditary Tyrosinemia Type 1 (HT-1): Initial dose 0.5 mg/kg once daily. May increase to 1.0 mg/kg once daily if succinylacetone levels are detectable. Max dose 2.0 mg/kg/day.
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Pediatric Dosing

Neonatal: Initial dose: 0.5 mg/kg once daily. Adjust based on succinylacetone levels and tyrosine levels.
Infant: Initial dose: 0.5 mg/kg once daily. Adjust based on succinylacetone levels and tyrosine levels.
Child: Initial dose: 0.5 mg/kg once daily. Adjust based on succinylacetone levels and tyrosine levels.
Adolescent: Initial dose: 0.5 mg/kg once daily. Adjust based on succinylacetone levels and tyrosine levels.
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Dose Adjustments

Renal Impairment:

Mild: No specific dose adjustment recommended.
Moderate: No specific dose adjustment recommended.
Severe: No specific dose adjustment recommended. Use with caution due to limited data.
Dialysis: Not available. Nitisinone is highly protein-bound, so dialysis is unlikely to be effective.

Hepatic Impairment:

Mild: No specific dose adjustment recommended.
Moderate: No specific dose adjustment recommended.
Severe: No specific dose adjustment recommended. Use with caution due to limited data.

Pharmacology

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Mechanism of Action

Nitisinone is a reversible inhibitor of 4-hydroxyphenylpyruvate dioxygenase (HPPD), an enzyme involved in the catabolism of tyrosine. In patients with hereditary tyrosinemia type 1 (HT-1), a deficiency in fumarylacetoacetate hydrolase (FAH) leads to the accumulation of toxic metabolites (e.g., succinylacetone). By inhibiting HPPD, nitisinone prevents the formation of these toxic metabolites from tyrosine, thereby reducing liver and kidney damage and preventing neurological crises.
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Pharmacokinetics

Absorption:

Bioavailability: Not available (oral administration, well absorbed)
Tmax: 3-8 hours
FoodEffect: Food does not significantly affect absorption.

Distribution:

Vd: Not available (extensive distribution)
ProteinBinding: >99% (primarily to albumin)
CnssPenetration: Limited (low concentrations in CSF)

Elimination:

HalfLife: 54 hours (range 36-90 hours)
Clearance: Not available
ExcretionRoute: Primarily renal (unchanged drug)
Unchanged: Not available (significant portion excreted unchanged)
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Pharmacodynamics

OnsetOfAction: Within days to weeks (reduction in succinylacetone levels)
PeakEffect: Weeks to months (stabilization of clinical parameters)
DurationOfAction: Sustained effect with daily dosing due to long half-life

Safety & Warnings

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Side Effects

Urgent Side Effects: Seek Medical Help Right Away

Although rare, some people may experience severe and potentially life-threatening side effects while taking this medication. If you notice any of the following symptoms, contact your doctor or seek medical attention immediately:

Signs of an allergic reaction, such as:
+ Rash
+ Hives
+ Itching
+ Red, swollen, blistered, or peeling skin with or without fever
+ Wheezing
+ Tightness in the chest or throat
+ Trouble breathing, swallowing, or talking
+ Unusual hoarseness
+ Swelling of the mouth, face, lips, tongue, or throat
Signs of liver problems, including:
+ Dark urine
+ Tiredness
+ Decreased appetite
+ Upset stomach or stomach pain
+ Light-colored stools
+ Vomiting
+ Yellow skin or eyes
Changes in eyesight, eye pain, or severe eye irritation
Sensitivity to bright light
Confusion, difficulty focusing, or changes in behavior
Redness, irritation, pain, or thick skin on the palms of the hands or soles of the feet
Signs of infection, such as:
+ Fever
+ Chills
+ Sore throat (due to low white blood cell counts, which may increase the risk of infection)
Unexplained bruising or bleeding (due to low platelet counts, which may increase the risk of bleeding)

Other Possible Side Effects

Like all medications, this drug can cause side effects. While many people may not experience any side effects or only minor ones, it's essential to discuss any concerns with your doctor. If you experience any side effects that bother you or persist, contact your doctor or seek medical attention.

Remember, this is not an exhaustive list of possible side effects. If you have questions or concerns, don't hesitate to reach out to your doctor. You can also report side effects to the FDA at 1-800-332-1088 or online at https://www.fda.gov/medwatch.
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Seek Immediate Medical Attention If You Experience:

  • Severe eye pain, redness, or blurred vision
  • Increased sensitivity to light (photophobia)
  • Skin rash or thickening of the skin (hyperkeratosis)
  • Unexplained bleeding or bruising
  • Frequent infections, fever, or sore throat (signs of low white blood cell count)
  • Numbness, tingling, or weakness in hands or feet (signs of peripheral neuropathy)
  • Significant changes in behavior or development (in children)
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Before Using This Medicine

Before Taking This Medication: Important Information to Share with Your Doctor

It is essential to inform your doctor about the following:

Any allergies you have, including allergies to this medication, any of its components, or other substances, such as foods or drugs. Be sure to describe the symptoms you experienced as a result of the allergy.
Potential interactions with other medications or health conditions. This medication may affect or be affected by other drugs or health problems, so it is crucial to disclose all relevant information.

To ensure safe treatment, provide your doctor and pharmacist with a comprehensive list of:

All prescription and over-the-counter (OTC) medications you are taking
Natural products and vitamins you are using
* Any health problems you have

Carefully review your medications and health conditions to confirm that it is safe to take this medication in conjunction with them. Never start, stop, or adjust the dosage of any medication without first consulting your doctor.
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Precautions & Cautions

It is essential to inform all your healthcare providers, including doctors, nurses, pharmacists, and dentists, that you are taking this medication.

Regular blood tests will be necessary, as directed by your doctor, to monitor your condition. Be sure to discuss any concerns or questions you have with your doctor.

Additionally, your doctor may recommend regular urine tests to assess your health. It is crucial to follow the testing schedule as advised by your doctor.

An eye exam may also be necessary, as prescribed by your doctor, to monitor any potential effects of the medication on your vision.

To maximize the benefits of this medication, it is essential to follow the diet plan recommended by your doctor.

If you are pregnant, planning to become pregnant, or are breastfeeding, inform your doctor immediately. You and your doctor will need to discuss the potential benefits and risks of this medication to both you and your baby to make an informed decision.
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Overdose Information

Overdose Symptoms:

  • Exaggerated adverse effects, particularly severe ocular symptoms (e.g., photophobia, corneal opacities), skin lesions, or hematologic abnormalities (thrombocytopenia, leukopenia) due to very high tyrosine levels.

What to Do:

There is no specific antidote. Management is supportive. Discontinue nitisinone, manage symptoms, and closely monitor tyrosine levels, ocular status, and hematologic parameters. Contact a poison control center (Call 1-800-222-1222) or seek emergency medical attention immediately.

Drug Interactions

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Moderate Interactions

  • Drugs that are highly protein-bound (e.g., warfarin, phenytoin): Nitisinone is highly protein-bound and could displace other highly protein-bound drugs, potentially increasing their free concentrations and toxicity. Monitor for increased effects of co-administered drugs.
  • Drugs metabolized by CYP3A4 (minor interaction): Nitisinone is a weak inhibitor of CYP3A4. Clinical significance is generally low, but monitor for altered effects of sensitive CYP3A4 substrates.

Monitoring

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Baseline Monitoring

Liver function tests (ALT, AST, bilirubin)

Rationale: To assess baseline hepatic status and monitor for potential hepatotoxicity.

Timing: Prior to initiation

Renal function tests (BUN, creatinine)

Rationale: To assess baseline renal status.

Timing: Prior to initiation

Complete Blood Count (CBC) with differential and platelets

Rationale: To assess baseline hematologic status and monitor for potential myelosuppression (thrombocytopenia, leukopenia).

Timing: Prior to initiation

Plasma amino acid levels (tyrosine, phenylalanine)

Rationale: To establish baseline levels and guide dietary management.

Timing: Prior to initiation

Plasma succinylacetone levels

Rationale: To confirm diagnosis and establish baseline for monitoring treatment efficacy.

Timing: Prior to initiation

Ophthalmologic examination (slit lamp, visual acuity)

Rationale: To establish baseline ocular health and monitor for potential ocular adverse effects (e.g., corneal opacities, photophobia).

Timing: Prior to initiation

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Routine Monitoring

Plasma tyrosine levels

Frequency: Weekly for the first month, then monthly or as clinically indicated

Target: 200-500 micromol/L (to minimize ocular toxicity)

Action Threshold: If > 500 micromol/L, reassess diet and consider dose adjustment. If > 1000 micromol/L, urgent action needed.

Plasma succinylacetone levels

Frequency: Monthly or as clinically indicated

Target: Undetectable or very low

Action Threshold: If detectable, consider dose increase or adherence issues.

Liver function tests (ALT, AST, bilirubin)

Frequency: Monthly for the first few months, then every 3-6 months or as clinically indicated

Target: Within normal limits

Action Threshold: Significant elevations may require dose adjustment or discontinuation.

Complete Blood Count (CBC) with differential and platelets

Frequency: Monthly for the first few months, then every 3-6 months or as clinically indicated

Target: Within normal limits

Action Threshold: Significant decreases (e.g., thrombocytopenia, leukopenia) may require dose adjustment or discontinuation.

Ophthalmologic examination

Frequency: Every 6-12 months or if ocular symptoms develop

Target: Normal findings

Action Threshold: Development of corneal opacities, photophobia, or other ocular symptoms may require dose adjustment or discontinuation.

Growth and development (pediatric patients)

Frequency: Regularly at clinic visits

Target: Normal for age

Action Threshold: Growth faltering may indicate inadequate dietary management or other issues.

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Symptom Monitoring

  • Changes in vision (e.g., photophobia, eye pain, blurred vision)
  • Skin changes (e.g., hyperkeratosis, rash)
  • Neurological symptoms (e.g., peripheral neuropathy, developmental delay)
  • Signs of infection (fever, sore throat)
  • Unexplained bleeding or bruising
  • Gastrointestinal symptoms (nausea, vomiting, abdominal pain)

Special Patient Groups

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Pregnancy

Nitisinone is Pregnancy Category C. There are no adequate and well-controlled studies in pregnant women. Use during pregnancy only if the potential benefit justifies the potential risk to the fetus. Untreated HT-1 in the mother can lead to severe complications for both mother and fetus.

Trimester-Specific Risks:

First Trimester: Animal studies show developmental toxicity (e.g., skeletal malformations, reduced fetal weight) at doses higher than human therapeutic doses. Risk in humans is unknown.
Second Trimester: Continued monitoring of maternal tyrosine levels is crucial to prevent high levels, which could be harmful to the fetus.
Third Trimester: Continued monitoring of maternal tyrosine levels is crucial. Neonates exposed in utero should be monitored for potential adverse effects.
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Lactation

Nitisinone is excreted into breast milk in animal studies. It is not known whether nitisinone is excreted in human milk. Due to the potential for serious adverse reactions in the breastfed infant, a decision should be made whether to discontinue nursing or to discontinue the drug, taking into account the importance of the drug to the mother. The benefits of breastfeeding should be weighed against the potential risks.

Infant Risk: L3 (Moderate risk). Potential for accumulation in the infant and adverse effects, particularly if the infant has HT-1 or is unable to metabolize tyrosine. Monitor breastfed infants for adverse effects and tyrosine levels.
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Pediatric Use

Nitisinone is indicated for pediatric patients of all ages with HT-1. Dosing is weight-based. Close monitoring of tyrosine levels, succinylacetone levels, growth, and development is essential. Adherence to the low-tyrosine/low-phenylalanine diet is critical.

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Geriatric Use

Clinical studies of nitisinone did not include sufficient numbers of subjects aged 65 and over to determine whether they respond differently from younger subjects. In general, dose selection for an elderly patient should be cautious, usually starting at the low end of the dosing range, reflecting the greater frequency of decreased hepatic, renal, or cardiac function, and of concomitant disease or other drug therapy.

Clinical Information

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Clinical Pearls

  • Nitisinone is a life-saving medication for HT-1, but its efficacy is highly dependent on strict adherence to a concomitant low-tyrosine and low-phenylalanine diet.
  • Regular monitoring of plasma tyrosine levels is critical to prevent ocular toxicity (corneal opacities, photophobia). Target tyrosine levels are typically 200-500 micromol/L.
  • If tyrosine levels are consistently high, first assess dietary adherence before considering dose adjustments.
  • Patients should be educated on the importance of reporting any visual changes or increased light sensitivity immediately.
  • Orfadin capsules can be opened and the contents mixed with a small amount of water or food for patients who have difficulty swallowing capsules.
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Alternative Therapies

  • Liver transplantation (historically the primary treatment for HT-1, now often reserved for patients who fail nitisinone therapy or present with advanced liver disease)
  • Dietary management alone (prior to nitisinone, but less effective and associated with higher morbidity/mortality)
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Cost & Coverage

Average Cost: Highly variable, typically >$10,000 - $30,000+ per 30 capsules (2mg)
Generic Available: Yes
Insurance Coverage: Specialty Tier (requires prior authorization, often covered by medical benefit for rare diseases)
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General Drug Facts

If your symptoms or health issues persist or worsen, it is essential to contact your doctor promptly. To ensure your safety, never share your medication with others or take someone else's medication. Some medications may come with an additional patient information leaflet, so it's a good idea to check with your pharmacist. If you have any questions or concerns about this medication, don't hesitate to discuss them with your doctor, nurse, pharmacist, or other healthcare provider. In the event of a suspected overdose, immediately call your local poison control center or seek medical attention. When seeking help, be prepared to provide information about what was taken, the amount, and the time it occurred.