Clinical Trials Show Promising Results for Risdiplam in Treatment of Spinal Muscular Atrophy Types 1, 2, and 3

According to a recent article in SMA News Today, risdiplam (formerly RG7916)  is in ongoing studies of patients with spinal muscular atrophy (SMA).

The drug is an investigational medicine developed by Genentech and Roche in concert with PTC Therapeutics and the SMA Foundation.

About SMA

SMA, a neuromuscular disease, represents the highest degree of infant deaths. It is a progressive disease causing muscle atrophy and other severe complications.

One baby in eleven thousand will be affected, thus putting SMA in the top tier of rare diseases. SMA causes the destruction of nerve cells found in the spinal cord. Since these cells are responsible for controlling muscle movement, SMA can have a devastating effect on a patient’s quality of life.

The SMA paradigm begins with a mutation in the survival motor neuron 1 gene (SMN1) causing a deficiency of the survival motor neuron (SMN) protein that is found in all parts of the body. It is thought that SMN deficiency also affects other cells and tissues thereby preventing various body functions.

To a limited degree, the SMN2 gene that has the same sequence may alleviate some of the mutation’s damage.

About Risdiplam

One of risdiplam’s main functions is to assist the SMN2 gene in producing increased SMN protein in all areas of the body. Risdiplam is an oral medication under evaluation for patients aged one month to age sixty.

Risdiplam is currently being evaluated in other studies, notably:

  • NCT02913482FIREFISH a two-part twenty-four-month study of infants who have been diagnosed with SMA Type 1.

Part 1: determine the optimum Part 2 dose and safety profile

Part 2: assess the number of infants sitting unaided after treatment

The study is scheduled to be finalized in September 2020.

  • NCT02908685SUNFISH a two-part placebo-controlled trial involving 180 children and adults ages two to twenty-five. The subjects have been diagnosed with Type 2 or Type 3 SMA.

Part 1: determine the optimum dose for Part 2

Part 2: assess motor function at twelve months

SUNFISH is scheduled for completion by July 2020.

  • NCT03032172JEWELFISH an exploratory trial involving patients six months to sixty years of age with varied forms of SMA. One of the prerequisites for participation in JEWELFISH is that the subjects must have been treated previously with olesoxime, Spinraza or Zolgensma.
  • NCT03779334RAINBOWFISH involving pre-symptomatic SMA was initiated recently.

As the trials progressed, the SMA Type 1 babies continued to pass motor milestones. Participants in the SUNFISH trial have shown increasing muscle performance, function, and safety. Moving forward risdiplam projects superior benefits to SMA patients.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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