TABLE OF CONTENTS Cystinosis 2
Fabry Disease 3
Gaucher Disease 4
RARE DISEASE TREATMENT RESOURCE GUIDE
Cystinosis
ProcysbiTM CystagonTM Cystaran TM Brand Name
Generic Name Cysteamine bitartrate delayed release Cysteamine bitartrate Cysteamine HCL
Manufacturer Horizon Mylan Sigma-Tau
Indication PROCYSBI is a cystine-depleting agent indicated for the treatment of nephropathic cystinosis in adult and pediatric patients 2 years of age and older.
Mechanism Cystine-depleting agent Cystine-depleting agent Cystine-depleting agent of Action
Route of Oral Oral Eye-drops Administration
Recommended The recommended starting . Dose dosage of PROCYSBI for cysteamine-naïve patients is 0.2 to 2 0.3 grams/m per day divided into two doses given every 12 hours.
Increase the dosage gradually over 4 to 6 weeks until the maintenance dosage is achieved to help reduce the risk of adverse reactions.
The recommended maintenance dosage of PROCYSBI for cysteamine-naive patients is 1.3 2 gram/m per day, divided into two equal doses given every 12 hours.
Do not exceed 1.95 grams/m2 per day
How Supplied 25 and 75 mg capsules
Reconstitution Volume
Further Dilution Final Volume
0.2ug in-line, low protein binding filter
Protect from light
Comments Swallow capsules whole. Do not crush or chew capsules or capsule contents Take with fruit juice (except grapefruit juice).
Do not eat for at least 2 hours before taking PROCYSBI and for at least 30 minutes after to maximize absorption.
FRONT SIDE
RARE DISEASE TREATMENT RESOURCE GUIDE
Fabry Disease
Brand Name Fabrazyme TM Replagal TM Galafold TM Generic Name Agalsidase beta Agalsidase alfa Migalastat HCl
Manufacturer Sanofi/Genzyme Shire Amicus
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Indication Fabrazyme is indicated for Replagal is indicated for long-term For the long-term treatment of use in patients with Fabry enzyme replacement therapy in adult or adolescent patients 16 disease. The safety and patients with a confirmed years of older with a confirmed efficacy in patients younger diagnosis of Fabry disease. The diagnosis of Fabry disease and than 8 years has not been safety and efficacy of Replagal in who an an amenable mutation established children aged 0-6 years has not yet been established
Mechanism of Action ERT ERT Chaperone
Pediatric Use The safety and efficacy in The safety and efficacy of The safety and efficacy in children patients younger than 8 Replagal in children aged 0-6 aged 0-15 years has not been years has not been years has not yet been established established established
Route of IV IV Oral Administration
Recommended Dose 1 mg/kg every other week 0.2 mg/kg every other week 150 mg every other day
Infusion Time 1.5-4 hours N/A Initial rate no more than 40 minutes 0.25 mg/min (15 mg/hr)
How Supplied 5 mg Vials Each vial of 3.5 ml of concentrate 123 mg (equivalent to 150 35 mg Vials contains 3.5 mg of agalsidase alfa migalastat HCl) capsules are ( lyophilized powder available in a blister pack single-use vials) containing 14 capsules
BACK SIDE
RARE DISEASE TREATMENT RESOURCE GUIDE
Fabry Disease
Brand Name Fabrazyme TM Replagal TM Galafold TM Reconstitution Volume Add 1.1 mL to each 5 mg vial Sterile Water for to yield 1 mL None N/A Injection (USP) Add 7.2 mL to each 35 mg vial to yield 7 mL
Further Dilution with <35 kg= 50 mL Dilute the total volume of 0.9% Sodium Chloride 35.1-70 kg =100 mL Replagal concentrate required in N/A Injection (USP) to a 70.1-100 kg=250mL 100 ml of 9 mg/ml (0.9%) Final Volume as >100 kg= 500 mL sodium chloride solution for follows infusion
Example: 80/ 5 mg/mL= 16 mL 80 x 0.2 mg/kg= 16 mg 1 capsule every other day by 80 kg patient Use two 35 mg vials + 16/3.5= 4.5 vials mouth two 5 mg vials
0.2 micron in-line, low Yes Yes N/A protein binding filter
Protect from light No No No
Premedications Antipyretic and/or Antipyretic and/or antihistamine No antihistamine if needed if needed
IgG Antibodies 79% of adults
Anaphylaxis Reported Yes ~1% No No
Pregnancy Category B Caution should be exercised Limited data on the use of when prescribing to pregnant Galafold in pregnant women women
Storage Refrigerate at 2-8℃. If Refrigerate at 2-8℃ Store in blister packs away from immediate use is not If not used immediately, moisture possible, the reconstituted normally not be longer than 24 and diluted solution may be hours at 2 to 8°C, unless dilution stored up to 24 hours at has taken place in controlled 2-8℃ and validated aseptic conditions
Comments Do not use filter needles Take the medicine on an empty during preparation stomach, at least 2 hours before eating. If you have just eaten, wait for 2 hours before taking the capsule
FRONT SIDE
RARE DISEASE TREATMENT RESOURCE GUIDE
Gaucher Disease
Brand Name CerezymeTM VPRIVTM Elylsyo TM Cerdelga TM ZavescaTM Generic Name Imiglucerase Velaglucerase Taliglucerase Eliglustat tartrate Miglustat
Manufacturer Sanofi Genzyme Shire Pfizer/Protalix Sanofi Genzyme Actelion
Indication Cerezyme is indicated VPRIV is indicated for Elelyso (taliglucerase Cerdelga is indicated Zavesca is approved for the long-term long-term enzyme alfa) is indicated for for the long-term as second-line enzyme replacement replacement therapy long-term enzyme treatment of adult therapy when ERT is therapy for pediatric (ERT) in patients with replacement therapy patients with Gaucher not a therapeutic and adult patients with type 1 Gaucher for the treatment of disease type 1 (GD1). option for patients with type1 Gaucher disease disease systemic symptoms in It is not intended to type 1 GD. adult patients with a be used in patients confirmed diagnosis of with GD2 or GD3. The In patients 4 years and Gaucher disease target population is older patients who are CYP2D6 intermediate (IM) or extensive (EM) metabolisers
Mechanism of ERT ERT ERT SRT SRT Action
Pediatric Use Has been administered VPRIV should not be The safety and efficacy In patients 4 years and to patients younger used in children under of Cerdelga in children older than 2 years of age; the age of 2 years. and adolescents under however, the safety the age of 18 years and effectiveness has has not been not been established established
How Produced Modified form of human Produced in an HT-1080 A recombinant Small Small acid β-glucosidase and is human fibroblast cell line glucocerebrosidase Molecule Molecule produced by recombinant by recombinant DNA similar to the human DNA technology using a technology lysosomal glycoprotein mammalian Chinese enzyme Hamster Ovary (CHO) β-glucocerebrosidase.The cell culture, with mannose active substance is modification for targeting purified from genetically macrophages modified carrot cells grown in pre-sterilized disposable bioreactors
Route of IV IV IV Oral Oral Administration
Compared to 1 amino acid Identical to wild-type 10 amino acid N/A N/A wild-type difference difference
Recommended 60 u/kg administered 60 u/kg administered 60 Units/kg The recommended dose 100 mg PO q8hr; Dose every other week every other week administered every is 84 mg eliglustat twice decrease to daily or other week daily in CYP2D6 q12hr for patients with intermediate metabolisers Dosage for which most (IMs) and extensive adverse effects. data is available metabolisers (EMs). The recommended dose is 84 mg eliglustat once daily in CYP2D6 poor metabolisers (PMs). If a dose is missed, the prescribed dose should be taken at the next scheduled time; the next dose should not be doubled.
RARE DISEASE TREATMENT RESOURCE GUIDE
Gaucher Disease
Brand Name CerezymeTM VPRIVTM Elylsyo TM Cerdelga TM Zavesca TM
Further Dilution The appropriate The total volume N/A N/A with 0.9% amount of Cerezyme required is diluted in Sodium Chloride for each patient is 100 mL of sodium Injection (USP) to diluted with 0.9% chloride 9 mg/ml a Final Volume Sodium Chloride (0.9%) solution as follows: Injection, USP, to a for infusion final volume of 100 – 200 mL
Example: 80kg x 60 Units/kg= 80kg x 60 Units/kg= 80kg x 60 Units/kg= 84 mg once (PMs) or 80 kg patient 4800 units 4800 units 4800 units twice daily (IMs) 4800 units/400 4800 units/400 4800 units/400 units/vial= 12 vials units/vial= 12 vials units/vial= 12 vials
0.2 micron N/A N/A in-line, low Yes Yes protein binding filter
Protect from light Not while infusing Not while infusing Not while infusing N/A N/A
Premedication Not necessary Not necessary N/A N/A
Anaphylaxis No No Reported
Pregnancy C B As a precautionary Category measure, it is recommended to avoid the use of Cerdelga during pregnancy
Storage 2-8℃ 2-8℃ 2-8℃
IgG Antibodies 15% 1%
Comments Before initiation of treatment with Cerdelga, patients should be genotyped for CYP2D6 to determine the CYP2D6 metaboliser status Consumption of grapefruit or its juice should be avoided