On January 7th, PTC Therapeutics, Inc. provided a corporate update, which will be detailed as part of the company’s presentation at the 37th Annual J.P. Morgan Healthcare Conference. As part of the update, progress on regulatory filing for risdiplam was outlined. The risdiplam program is a collaboration between PTC, Genentech/Roche and SMA Foundation. The following key milestones and goals were listed:
- Successfully completed enrollment of pivotal portion of FIREFISH trial in Type 1 SMA babies in 2018. For more about FIREFISH click here.
- Regulatory submission targeted for the second half of 2019 based on recent feedback from the FDA & national health authorities in Europe that Part 1 of FIREFISH and SUNFISH may be sufficient to file a new drug application (NDA) and Marketing Authorisation Application (MAA). This information regarding regulatory submissions has been confirmed by Roche/Genentech.
- The goal of the clinical development program is to support the approval of a broad label so risdiplam can potentially benefit as many SMA patients as possible.
Risdiplam is an investigational, oral medicine that is systemically distributed and designed to increase SMN protein levels in the central nervous system (CNS) and throughout the body. It is designed to help the SMN2 gene produce more functional SMN protein, to better support motor neurons and muscle function. Roche and Genentech are leading the clinical development of risdiplam in collaboration with the SMA Foundation and PTC Therapeutics. Risdiplam is currently being evaluated in three multicenter trials in people with SMA:
FIREFISH – an open-label trial in infants aged one to seven months with Type 1 SMA.
SUNFISH – a double-blind, placebo-controlled trial in children and young adults (two to 25 years old) with Type 2 or 3 SMA.
JEWELFISH – an open-label exploratory trial in people aged 12-60 with Type 2 or 3 SMA who have been previously treated with SMN-targeting therapy as part of a clinical study.
A new trial, RAINBOWFISH in pre-symptomatic SMA, will be initiated by early 2019.
FIREFISH is an open-label, two-part pivotal clinical trial in infants with Type 1 SMA. Part 1 was a dose escalation study in 21 infants. The primary objective of Part 1 was to assess the safety profile of risdiplam in infants and determine the dose for Part 2. Part 2 is a pivotal, single-arm study of risdiplam in approximately 40 infants with Type 1 SMA for 24 months, followed by an open-label extension. The primary objective of Part 2 is to assess efficacy as measured by the proportion of infants sitting without support after 12 months of treatment, as assessed in the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development – Third Edition (BSID-III) (defined as sitting without support for 5 seconds).