CHMP Backs Three Drugs for Rare Diseases

Megan Brooks


June 29, 2015

The European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) has recommended marketing clearance of three drugs for rare diseases.

The committee recommended approval of sebelipase alfa ( Kanuma , Synageva BioPharma) for long-term enzyme replacement therapy in patients of all ages with lysosomal acid lipase (LAL) deficiency, a severe life-threatening genetic disorder affecting fewer than 1 in 10,000 people in Europe.

Sebelipase alfa, a recombinant human LAL, replaces the activity of the missing enzyme leading to reductions in liver injury, liver fat, and dyslipidemia. It has demonstrated "significant" survival benefit in infants with Wolman disease, the most severe form of the disease, EMA said.

Sebelipase alfa will be available as 2-mg/mL concentrate for solution for infusion.

In clinical trials, the most common side effects with sebelipase alfa were potential hypersensitivity reactions, transient hyperlipidemia, and development of antidrug antibodies (ADAs), "which can hamper treatment as it might induce hypersensitivity and/or make treatment potentially less effective," EMA said. The CHMP recommended that hypersensitivity, which seems to be more common in infants, be monitored in all age groups. The CHMP will also require long-term monitoring of ADAs.

Sebelipase alfa received orphan drug designation in Europe in 2010. Sebelipase alfa also has orphan drug designation in the US and is currently under review by the US Food and Drug Administration.


The CHMP also recommended approval of human alpha1-proteinase inhibitor ( Respreeza , CSL Behring) for the treatment of alpha1-proteinase inhibitor deficiency. The condition is estimated to affect about 100,000 people in the US, according to the Alpha-1 Foundation, but the disease is often misdiagnosed, meaning there could be many more cases out there.

"Respreeza is indicated for maintenance treatment, to slow the progression of emphysema in adults with documented severe alpha1-proteinase inhibitor deficiency (e.g. genotypes PiZZ, PiZ[null], Pi[null,null], PiSZ). Patients are to be under optimal pharmacologic and nonpharmacologic treatment and show evidence of progressive lung disease (e.g. lower forced expiratory volume per second [FEV1] predicted, impaired walking capacity or increased number of exacerbations) as evaluated by a healthcare professional experienced in the treatment of alpha1-proteinase inhibitor deficiency," EMA said.

Respreeza has been shown to slow the annual rate of lung density decline. The most common side effect is hypersensitivity reactions. Respreeza will be available as 1000-mg powder and solvent for solution for infusion.


The CHMP also gave a green light to idebenone ( Raxone , Santhera) for the treatment of visual impairment in adolescent and adult patients with Leber's hereditary optic neuropathy (LHON), a rare genetic disease that typically leads to permanent blindness.

Idebenone is an antioxidant thought to help restore mitochondrial function and prevent oxidative damage in retinal ganglion cells in patients with LHON, thereby preventing and/or reversing vision loss.

Idebenone received orphan designation in Europe in 2007. It will be available in 150-mg film-coated tablets.

Detailed recommendations for the use of these drugs will be described in the summary of product characteristics, which will be published in the European public assessment report and made available after marketing authorization has been granted by the European Commission.


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