30 March 2015 EMA/COMP/31818/2015 Committee for Orphan Medicinal Products

Public summary of opinion on orphan designation 505 amino acid protein, corresponding to amino acids 2-506 of the wild type human histidyl-tRNA synthetase for the treatment of facioscapulohumeral muscular dystrophy

On 12 February 2015, orphan designation (EU/3/15/1448) was granted by the European Commission to Voisin Consulting S.A.R.L., France, for 505 amino acid protein, corresponding to amino acids 2-506 of the wild type human histidyl-tRNA synthetase for the treatment of facioscapulohumeral muscular dystrophy.

What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy is an inherited condition that causes weakness and atrophy (wasting) of the muscles, usually starting with the muscles of the face, shoulders and arms and gradually working down to the muscles of the torso and lower limbs. Symptoms usually start in adulthood but there is also a more severe form of the disease that starts in childhood (infantile onset). The condition is long-term debilitating due to progressive muscle weakness and the resulting impaired mobility. Vision and hearing may also be impaired and the infantile onset form is considered life threatening.

What is the estimated number of patients affected by the condition? At the time of designation, facioscapulohumeral muscular dystrophy affected not more than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 51,000 people *, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

*

Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 512,900,000 (Eurostat 2015).

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What treatments are available? At the time of designation, no satisfactory method were authorised in the EU to treat facioscapulohumeral muscular dystrophy. Treatment of patients was mainly supportive and included physical therapies such as physiotherapy and medicines to manage muscle pain and inflammation.

How is this medicine expected to work? The medicine is a version of a natural protein, human histidyl-tRNA synthetase (HARS), which is known for its important role in the production of proteins. This protein is also thought to be involved in muscle growth and development as well as acting on the immune system (the body’s natural defences) to decrease inflammation. It is expected that through these actions this medicine, when given by injection to patients with the disease, may reduce the symptoms of facioscapulohumeral muscular dystrophy.

What is the stage of development of this medicine? The effects of the medicine have been evaluated in experimental models. At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with facioscapulohumeral muscular dystrophy were ongoing. At the time of submission, the medicine was not authorised anywhere in the EU for facioscapulohumeral muscular dystrophy or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 January 2015 recommending the granting of this designation.

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Opinions on orphan medicinal product designations are based on the following three criteria: •

the seriousness of the condition;

•

the existence of alternative methods of diagnosis, prevention or treatment;

•

either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.

Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.

Public summary of opinion on orphan designation EMA/COMP/31818/2015

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For more information Sponsor’s contact details: Voisin Consulting S.A.R.L. 3, rue des Longs Prés 92100 Boulogne Billancourt France Tel. +33 1 41 31 83 00 Fax +33 1 46 20 53 38 E-mail: [email protected]

For contact details of patients’ organisations whose activities are targeted at rare diseases see: •

Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe;

•

European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

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Translations of the active ingredient and indication in all official EU languages 1, Norwegian and Icelandic Language

Active ingredient

Indication

English

505 amino acid protein, corresponding to amino

Treatment of facioscapulohumeral

acids 2-506 of the wild type human histidyl-

muscular dystrophy

tRNA synthetase Bulgarian

505 аминокиселинен протеин, съответстващ

Лечение на фацио-скапуло-

на аминокиселини 2-506 от човешка

хумерална мускулна дистрофия

хистидил-тРНК-синтетаза от див тип Croatian

Protein koji odgovara aminokiselinama 2-506

Liječenje fascioskapulohumeralne

divljeg tipa ljudske histidil-tRNK sintetaze,

mišićne distrofije

sastavljen od 505 aminokiselina Czech

Protein složený z 505 aminokyselin, což

Léčba facioskapulohumerální svalové

odpovídá 2-506 aminokyselinám divokého typu

dystrofie

humánní histidyl-tRNA syntetázy Danish Dutch

505 aminosyreprotein svarende til aminosyrer 2-

Behandling af facioscapulohumeral

506 af vildtypen human-histidyl-tRNA-syntetase

muskeldystrofi

505 aminozuurproteïne, overeenstemmend met

Behandeling van

aminozuren 2-506 van het wild-type humaan

facioscapulohumerale spierdystrofie

histidyl-tRNA synthetase Estonian

505 aminohappe proteiin, mis vastab loodusliku

Fatsioskapulohumeraalse

organismi inimese histidüül-tRNA süntetaasi

lihasdüstroofia ravi

aminohapetele 2-506 Finnish

505 aminohappo proteiinia, jotka vastaavat

Fasioskapulohumeraalisen

villityypin histidiini-tRNA-ligaasin aminohappoja

lihasdystrofian hoito

2–506 French

Protéine de 505 acides aminés, qui

Traitement de la dystrophie

correspondent aux acides aminés 2-506 de

musculaire facio-scapulo-humérale

l’histidyl-ARN t synthétase humain de type sauvage German

505 Aminosäureprotein, entspricht Aminosäure

Behandlung der fazio-skapulo-

2-506 des Wildtyps der humanen Histidyl-tRNA-

humeralen Muskeldystrophie

Synthetase Greek

Πρωτεϊνη 505 αμινοξέων, τα οποία αντιστοιχούν

Θεραπεία της προσωποωμοβραχιόνιας

στα αμινοξέα 2-506 της φυσικού τύπου

μυϊκής δυστροφίας

ανθρώπινης ιστιδυλο-tRNA συνθετάσης Hungarian

505 aminosavból álló fehérje, amely megfelel a

A fascioscapulohumeralis

vad típusú humán hisztidil-tRNS-szintetáz 2-506

izomdisztrófia kezelése

aminosavjának Italian

Proteina di 505 aminoacidi, corrispondenti agli

Trattamento della distrofia muscolare

aminoacidi in posizione 2-506 dell’istidil-tRNA

facio-scapolo-omerale

sintetasi di tipo umano non mutato Latvian

505 aminoskābju proteīns, kas atbilst normālas

Facioskapulohumerālas muskuļu

cilvēka histidil-tRNS sintetāzes 2.-506.

distrofijas ārstēšanai

aminoskābei 1

At the time of designation

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Language

Active ingredient

Indication

Lithuanian

505 aminorūgščių baltymas, atitinkantis

Veido-mentės-žasto raumenų

žmogaus laukinio tipo histidil-tRNR sintetazės 2-

distrofijos gydymas

506 aminorūgštis Maltese

Proteina b’505 aċidi amminiċi, li tikkorrispondi

Kura ta' distrofija muskolari faċjo-

f'aċidi amminiċi 2-506 ta’ histidyl-tRNA

skapulo-umerali

synthetase uman tat-tip selvaġġ Polish

Białko zbudowane z 505 aminokwasów

Leczenie dystrofii mięśniowej

odpowiadających aminokwasom 2-506 syntetazy

twarzowo-łopatkowo-ramieniowej

ludzkiego histydylo-tRNA typu dzikiego Portuguese

Proteína do aminoácido 505, correspondendo

Tratamento do distrofia muscular

aos aminoácidos 2-506 da histidil tRNA sintetase

facioescapuloumeral

humana do tipo selvagem Romanian

Proteină din 505 aminoacizi, corespunzând

Tratamentul distrofiei musculare

aminoacizilor 2-506 din enzima histidil ARN t

facio-scapulo-humerale

sintetază umană de tip sălbatic Slovak

Proteín zložený z 505 aminokyselín, čo odpovedá

Liečba facioskapulohumerálnej

2-506 aminokyselinám divokého typu humánnej

svalovej dystrofie

histidyl-tRNA syntetázy Slovenian

505 aminokislinski protein, ustrezen

Zdravljenje facioskapulohumeralne

aminokislinam 2-506 divjega tipa človeške

mišične distrofije

histidil-tRNA sintetaze Spanish

Proteína de 505 aminoácidos, que corresponden

Tratamiento de la distrofia muscular

a los aminoácidos 2-506 de la histidil-ARNt

facioescapulohumeral

sintetasa humana natural Swedish

505 aminosyreprotein, motsvarar aminosyrorna

Behandling av facioskapulohumeral

2-506 av den vilda typen mänskligt histidyl-

muskeldystrofi

tRNA ligas Norwegian Icelandic

505 aminosyreprotein, tilsvarende aminosyrene

Behandling av facioscapulohumeral

2-506 av villtype human histidyl-tRNA syntetase

muskel dystrofi

505 amínósýruprótein, sem er sambærilegt við

Meðferð á facioscapulohumeral-

amínósýru 2-506 af villigerð manna histidýl-

vöðvarýrnun

tRNA lígasa

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