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FDA Approves PTC’s Gene Therapy for AADC Deficiency

Hereditary Transthyretin Amyloidosis (hATTR)

Rare and fatal disease where deposits of amyloids cause progressive damage to multiple organ systems

What is Hereditary Transthyretin Amyloidosis?

Hereditary transthyretin amyloidosis (hATTR) is a rare, progressive and fatal disease. It is caused by abnormal formulation of the protein transthyretin (TTR), which leads to deposits of amyloid protein in multiple tissues and organs of the body.1,2 These deposits damage the structure and function of affected organs, including in the peripheral nerves, heart, intestinal tract, eyes, kidneys, central nervous system, thyroid, and bone marrow.3,4,5  

Symptoms of hATTR include limb weakness and pain, heart failure, and problems with the eyes, kidneys, thyroid gland, adrenal gland and blood vessels.6 There are more than 130 amyloid-forming mutations of TTR, and each may cause different disease symptoms.7,8

People usually only experience symptoms of hATTR when they are more than 30 years old, when amyloid deposits have built up over several decades. The progressive accumulation of deposits has debilitating effects on multiple aspects of a patient’s life. Ultimately, hATTR results in death within 3-15 years of symptom onset.1,9

About 30% of total of hATTR cases are a type of hATTR called hereditary transthyretin amyloidosis with polyneuropathy.

How common is Hereditary Transthyretin Amyloidosis?

There are an estimated 50,000 patients with hereditary transthyretin amyloidosis worldwide, however it is more common in some countries – including Portugal, Sweden, Ireland, and Japan.1,2

How is PTC Working to Treat Hereditary Transthyretin Amyloidosis?

Tegsedi® (inotersen) is an antisense oligonucleotide and inhibitor of human transthyretin production. It is the world’s first RNA-targeted therapeutic to treat patients with hereditary transthyretin amyloidosis with polyneuropathy. Tegsedi is available in the U.S,. the European Union and Brazil. PTC has in-licensed Tegsedi in Latin America.

REFERENCES

[1] Picken MM. Acta Haematol 2020;143(4):322–334. 1. Adams D, Amitay O, Coelho T. Patients with hereditary ATTR amyloidosis experience an increasing burden of illness as the disease progresses. Orphanet J Rare Dis. 2015;10(suppl 1):P58. 2. Conceição I, González-Duarte A, Obici L, et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9

[2] Luigetti M, Romano A, Di Paolantonio A, et al. Ther Clin Risk Manag 2020;16:109–123

[3] Yarlas A, Gertz MA, Dasgupta NR, et al. Muscle & Nerve 2019;60(2):169–175.

[4] Benson MD, Buxbaum JN, Eisenberg DS, et al. 2018;25(4):215–219

[5] Taber’s Medical Dictionary. Amyloidosis. Available at: https://www.tabers.com/tabersonline/view/Tabers-Dictionary/731793/0/amyloidosis (Last accessed May 2021).

[6] Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst 2016;21(1):5–9.

[7] Ueda M, Ando Y. Transl Neurodegener 2014;3(1):1–10.

[8] Maurer MS, Hanna M, Grogan M, et al. J Am Coll Cardiol  2016;68(2):161–172.

[9] Baker KR, Rice L. Methodist Debakey Cardiovasc J 2012;8(3):3–7.

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