Rare Diseases

Novartis announces Nature Medicine publication of Zolgensma data demonstrating age-appropriate milestones when treating children with SMA presymptomatically

Basel, June 17, 2022 - Novartis today announced that Nature Medicine published final results from both the two- and three-copy cohorts of the completed Phase 3 SPR1NT trial as separate companion manuscripts, reinforcing the transformational benefit of Zolgensma® (onasemnogene abeparvovec) when used early. These data demonstrate that, whether they…

Rare DiseasesNeuroscienceCell and Gene Therapy
FDA approves Novartis Vijoice® (alpelisib) as first and only treatment for select patients with PIK3CA-Related Overgrowth Spectrum (PROS)

Basel, April 6, 2022 — Novartis today announced that the U.S. Food and Drug Administration (FDA) granted accelerated approval to Vijoice® (alpelisib) for the treatment of adult and pediatric patients 2 years of age and older with severe manifestations of PIK3CA-Related Overgrowth Spectrum (PROS) who require systemic therapy.1 Vijoice is the first…

Reimagine MedicineRare DiseasesOncologyMedical Innovations
Zolgensma® data including patients with more severe SMA at baseline further demonstrate therapeutic benefit, including prolonged event-free survival, increased motor function and milestone achievement

Basel, October 1, 2020 – Novartis Gene Therapies today announced new interim data from the ongoing Phase 3 STR1VE-EU clinical trial for Zolgensma® (onasemnogene abeparvovec) that demonstrated patients with spinal muscular atrophy (SMA) Type 1 continued to experience significant therapeutic benefit, including event-free survival, rapid and…

Reimagine MedicineRare DiseasesMedical Innovations
Novartis announces positive FDA Advisory Committee recommendation for use of Entresto® to treat patients with HFpEF

Basel, December 16, 2020 — Novartis today announced that the US Food and Drug Administration (FDA) Cardiovascular and Renal Drugs Advisory Committee (CRDAC) voted 12 to 1 that the data presented support the use of Entresto® (sacubitril/valsartan) in treatment of patients with heart failure with preserved ejection fraction (HFpEF). This was based…

Reimagine MedicineRare DiseasesMedical Innovations
Novartis investigational oral therapy iptacopan (LNP023) receives FDA Breakthrough Therapy Designation for PNH and Rare Pediatric Disease Designation for C3G

Basel, December 16, 2020 — Novartis today announced that the U.S. Food and Drug Administration (FDA) granted iptacopan (LNP023) Breakthrough Therapy Designation (BTD) in paroxysmal nocturnal hemoglobinuria (PNH) and Rare Pediatric Disease (RPD) Designation in C3 glomerulopathy (C3G).

Reimagine MedicineRare DiseasesMedical Innovations
Novartis receives approval from Japanese Ministry of Health, Labour and Welfare for Zolgensma® the only gene therapy for patients with spinal muscular atrophy (SMA)

Basel, March 19, 2020 — Novartis Pharma K.K. (“Novartis Pharma”) today announced that the Japanese Ministry of Health, Labour and Welfare (MHLW) approved Zolgensma® (onasemnogene abeparvovec) for the treatment of spinal muscular atrophy (SMA) in patients under the age of two, including those who are pre-symptomatic at diagnosis. Patients must be…

Reimagine MedicineRare DiseasesCell and Gene TherapyAd Hoc
AveXis presents AVXS-101 IT data demonstrating remarkable increases in HFMSE scores and a consistent clinically meaningful response in older patients with SMA Type 2

Basel, March 24, 2020 – AveXis, a Novartis company, today announced that new data from the Phase 1/2 STRONG study demonstrated a one-time intrathecal (IT) administration of AVXS-101 in patients ≥2 years and <5 years old with spinal muscular atrophy (SMA) Type 2 who received Dose B (1.2 x 1014 vg) met the primary efficacy endpoint, achieving…

Reimagine MedicineRare DiseasesCell and Gene Therapy
Zolgensma® data shows rapid, significant, clinically meaningful benefit in SMA including prolonged event-free survival, motor milestone achievement and durability now up to 5 years post-dosing

Basel, March 24, 2020 – AveXis, a Novartis company, today announced a one-time infusion of Zolgensma® (onasemnogene abeparvovec-xioi) showed rapid, significant and clinically meaningful therapeutic benefit in patients with spinal muscular atrophy (SMA) across a range of studies, including in patients treated presymptomatically, and sustained…

Reimagine MedicineRare DiseasesCell and Gene Therapy
AveXis receives positive CHMP opinion for Zolgensma®, the only gene therapy for spinal muscular atrophy (SMA)

Basel, March 27, 2020 – AveXis, a Novartis company, today announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion recommending conditional marketing authorization of Zolgensma® (onasemnogene abeparvovec) for the treatment of patients with 5q spinal…

Rare DiseasesInnovationCell and Gene TherapyAd Hoc
Novartis announces positive results from Phase II study of LNP023 in patients with paroxysmal nocturnal hemoglobinuria (PNH)

Basel, August 29, 2020 — Novartis today announced new Phase II data for LNP023, an investigational oral treatment for paroxysmal nocturnal hemoglobinuria (PNH), presented at the virtually held 2020 European Society for Blood and Marrow Transplantation (EBMT) Annual Meeting.

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Patient Perspectives

A blood cancer patient’s long road to diagnosis

Ilona, a patient living with polycythemia vera, shares her experiences with this rare blood cancer

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Patient Perspectives

Why research into rare diseases matters

Hundreds of millions of people worldwide await treatments for rare diseases.

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