척수성 근위축증(SMA)과 졸겐스마

척수성 근위축증

Spinal Muscular Atrophy (SMA)

태아(fetus) 시기부터 운동 관련 세포(motor units)에 퇴행성 질환이 발생하기 시작해 

신생아(infancy)기에 병이 더욱 진행되어 

관련 근육에 위축증(atrophy) 및 신경제거(denervation)가 보이는 질병. 

SMN-1 유전자 돌연변이로인해 SMN(survival motor neuron) 단백질 생성에 문제가 생겨 발생하며

운동신경의 기능이 손상됨에 따라 후술 할 증상들이 보이게 된다.

발생 빈도는 6,000~24,000 출생아 중 1명이고

보인자의 빈도도 1/40-50로 보고되고 있다.

SMN-1유전자가 제 기능을 못하므로

보조 역할을 하는 SMN-2 유전자가 얼마나 있어 그 기능을 대신할 수 있느냐에 따라

총 네 가지 유형으로 나뉜다.

 

 

진단에 유전자 검사가 필수이고, 의심해야 진단되는 질환, SMA.

 

이 질환의 완치를 목표로 하는 약제,

노바티스의 졸겐스마(Zolgensma)

약값은 210만 달러..

---

What is ZOLGENSMA?
ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with SMA.

ZOLGENSMA is given as a one-time infusion into a vein.

ZOLGENSMA was not evaluated in patients with advanced SMA.

 

What is the most important information I should know about ZOLGENSMA?
- ZOLGENSMA can increase liver enzyme levels and cause acute serious liver injury or acute liver failure.
- Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.
- Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, if the patient misses a dose of corticosteroid or vomits it up, or if the patient experiences a decrease in alertness.

What should I watch for before and after infusion with ZOLGENSMA?
- Infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see any signs of a possible infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.
- Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if the patient experiences unexpected bleeding or bruising.
- Thrombotic microangiopathy (TMA) has been reported to occur approximately one week after ZOLGENSMA infusion. Caregivers should seek immediate medical attention if the patient experiences any signs or symptoms of TMA, such as unexpected bruising or bleeding, seizures, or decreased urine output.

What do I need to know about vaccinations and ZOLGENSMA?
Talk with the patient’s doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.
Protection against respiratory syncytial virus (RSV) is recommended.

Do I need to take precautions with the patient’s bodily waste?
Temporarily, small amounts of ZOLGENSMA may be found in the patient’s stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.

What are the possible or likely side effects of ZOLGENSMA?
The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.

 

-- 제약회사 안내 내용

---

아래는 우리나라 관련 기사

https://www.news1.kr/articles/4729789

'주사 한방에 25억' 뭘로 만들길래…희귀질환 치료제의 경제학