Metabolic Diseases

7 Drugs classified under this therapeutic system

Enzyme Cofactor. Sapropterin (dihydrochloride) 100 mg.
SOL. TABS: 30, 120 x 100 mg. 5-20 mg/
kg/dly. See lit.
Tmt. HPA in adults, child over 4 yrs with
PKU, shown respons. to such tmt. Tmt.
HPA in adults, child over 4 yrs with BH4
defic., shown respons. to such tmt.
C/I: Hypersens.

4-Hydroxyphenylpyruvate Dioxygenase Inhibitor. Nitsinone 2, 5, 10 mg.
CAPS: 60. Recomm. inititial dose in
ped., adult populat: 1 mg/kg body wt
dly in 2 divid. doses.
Tmt. pts with confirmed diagnos.
hereditary tyrosinemia type 1 (HT-1) in
combinat. with dietary restrict. of tyrosine
and phenylalaline.
C/I: Hypersens., lact.

Monoclonal Antibody. Alirocumab 75 mg/ml, 150 mg/ml.
PEN/SYR.: 1,2×75,150 mg/ml
The usual init. dose is 75 mg admin. SC once every 2 wks.
Pts. requir. larger LDL-C reduction (>60%) may be started on 150 mg admin.
SC once every 2 wks.
The dose can be individual. based on pt. characteristics such as baseline
LDL-C level, goal of ther. &response. See lit.
Primary Hypercholesterolaemia (heterozygous familial &non-familial) or mixed dyslipidaemia in adults, as an adjunct to diet:
- in comb .with a statin or statin with other lipid lowering therapies in patients unable to
reach LDL-C goals with the max. tolerated dose of a statin or,
- alone or in comb. with other lipid-low. therapies in pts. who are statin-intoler.
The effect of the drug on cardiovasc. morbid. and mortal. has not yet been determin.
C/I: Hypersens.

Human Monoclonal Antibody. Evolocumab 140 mg/ml.
PRE-FILL.SYR.or PEN:1, 2, 3, 6 X 1ml.
Prim. hypercholesterolem. & mixed dyslipidem. in adlts. and ped. pts. aged 10 and over: either 140 mg every two wks. or 420 mg once month. ; both doses
are clinic. equiv.
Homozyg. famil. hypercholesterolem. in adult. and ped. pts. ≥ 10 yrs.:
init. recomm. dose is 420 mg once month. After 12 wks. of tmt., dose freq. can be up-titrat. to 420 mg once every 2 wks. if clinic. meaningful resp. is not achieved. Pts. on apheresis may init. tmt. with 420 mg every two wks. to corresp. with their apheresis sched.
Establish. atheroscler. cardiovasc. dis. in adult.: 140 mg every two wks. or 420 mg once month.; both doses are clinic. equiv. See lit.
Hypercholesterolem. & and mixed dyslipidem. in adults with prim. hypercholesterolem. (heterozyg. famil. and non-famil.) or mixed dyslipidem. and in ped. pts. aged 10 and over with heterozyg. fam. hyperchol. as an adj. to diet:
in comb. with a statin or statin with other lipid-low. therap. in pts. unable to reach LDL-C goals with the max. toler. dose of a statin or,
alone or in comb. with other lipid-lower. therap. in pts. who are statin-intoler., or for whom a statin is contraindic.
Homozyg.  famil. hypercholesterolem. –adult. & ped. pts. aged 10 and over- in comb. with other lipid-lower. therap.
Establish. atheroscl. cardiovasc. dis.-adults with MI, stroke or peripher. arterial dis.- to red. cardiovasc. risk by lower. LDL-C levels, as an adj. to correct. of other risk factors:
in comb.with the maxim. toler. dose of a statin with / w/o other lipid-lower.
therap.
alone or in comb. with other lipid-lower. therap. in pts. who are statin-intoler., or for whom a statin is contraindic.
C/I: Hypersens.

Alimentary Tract, Metabolism Enzymes. Asfotase Alfa 40 mg/ml, 100 mg/ml.
VIAL: 1, 12×100mg, 1×40mg.
2 mg/kg of bdy. wt. admin. S.C. three times per week, or a dosage regimen of 1 mg/kg of bdy. wt. admin. S.C. six times per week. See lit.
Indicated for long-term enzyme replacement ther. in pts. with paediatric-onset hypophosphatasia to treat the bone manifestations of the dis.
C/I: Severe or life-threaten. hypersens. to the active subst. or to any of the excipients if hypersens. is not controllable.

Drug for musculo-skeletal system. Ataluren 125, 250, 1000 mg.
SACHET: 30×125,250,1000 mg. Admin. oral. every day in 3 doses. The 1^ST dose should be taken in the morn., the 2^ND at midday, and the 3^RD in the eve. Recommend. dosing intervals are 6 hrs. betwn. morn. and midday doses, 6 hours betwn. midday and eve. doses, and 12 hrs. betwn. the eve. dose and the first dose on the next day.
The recomm. dose is 10 mg/kg bdy. wt. in the morn. 10 mg/kg bdy. wt. at midday, and 20 mg/kg bdy. wt. in the eve. (for a total dly. dose of 40 mg/kg bdy. wt.). See Lit.
Tmt. of Duchenne muscul. dystrophy result. from a nonsense mutation in the dystrophin gene, in ambulatory pts. aged 2 yrs. & older. Efficacy has not been demonstrated in non-ambulat. pts.
The presence of a nonsense mutation in the dystrophin gene should be determined by genetic testing.
C/I: Hypersens. Concom. use of IV aminoglycosides.