What the trial was testing
The trial enrolled 62 patients with spinal muscular atrophy. The study was sponsored by Hoffmann-La Roche and tracked outcomes across the full group of patients who matched the trial's eligibility profile.
It was initial testing (phase 2). Trials at this stage are designed to produce evidence regulators and physicians can act on — not just observations to follow up later.
What the results showed
Seven of 17 infants on the higher dose learned to sit without support, a milestone they would not have reached otherwise.
The New England journal of medicine · 2021 · NCT02913482
These findings — that babies on the higher dose reached a milestone they typically never achieve — were published in the The New England journal of medicine and represent the headline result of the study.
Researchers tracked outcomes across 62 patients enrolled in the trial. The result was consistent enough across the group that the team felt confident reporting it.
What this means for patients
For patients with spinal muscular atrophy, this result changes the calculus on what to ask their care team about. Whether it changes day-to-day care depends on factors like disease subtype, prior treatments, and where the patient is in their care journey.
What you can do now
Risdiplam is now FDA-approved for spinal muscular atrophy in children and adults. This medicine is taken by mouth at home. If your child has been diagnosed with spinal muscular atrophy, ask your doctor whether risdiplam or other approved treatments are right for them.
Eligibility for the treatments mentioned above depends on specific test results and clinical history. Bring this summary, the trial name, and your most recent labs or pathology report to your next visit.
Open spinal muscular atrophy trials
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.
A Study to Learn About the Investigational Drug Rinzimetostat (ORIC-944) in Patients With mCRPC Who Were Previously Treated With Abiraterone Acetate (Himalayas-1)
Himalayas-1 is a randomized, open-label, global, multicenter phase 3 study evaluating whether the combination of rinzimetostat with darolutamide is more effective compared to physician's choice of control; ARPI (darolutamide or enzalutamide) or docetaxel for treating patients with metastatic castration resistant prostate cancer (mCRPC) who were previously treated with abiraterone acetate. The primary objective of this study is to demonstrate superiority in radiographic progression free survival (rPFS) of the investigational arm of rinzimetostat + darolutamide combination versus physician's choice of control: ARPI (darolutamide or enzalutamide) or docetaxel.