Posts by: Marta Figueiredo

SMA News Today

Eight weeks of treatment with investigational add-on oral therapy reldesemtiv safely improved motor and respiratory strength in adolescents and adults with spinal muscular atrophy (SMA), according to final data from a ... Read more

March 12, 2021March 12, 2021

PRX-102 Safe and Effective Once Monthly Fabry Treatment, Phase 3 Data Show

Fabry Disease News

A once-a-month regimen of the investigational enzyme replacement therapy (ERT) PRX-102 (pegunigalsidase alfa) is safe and effective at maintaining disease stability in adults with Fabry disease, top-line data from the ... Read more

March 11, 2021March 11, 2021

Amylyx Planning to Ask Health Canada to Approve AMX0035 to Treat ALS

ALS News Today

Amylyx Pharmaceuticals plans to soon apply to Health Canada, requesting approval of oral AMX0035 to treat amyotrophic lateral sclerosis (ALS) based on the findings of the CENTAUR clinical trial. The company ... Read more

March 11, 2021March 11, 2021

Metabolic Disorders May Underlie Some Diagnosed Autism Cases

Sanfilippo News

Genetic metabolic diseases, such as Sanfilippo syndrome, may underlie an autism spectrum disorder (ASD) diagnosis, especially when accompanied with additional symptoms, according to a case series in Turkey. The data ... Read more

March 10, 2021March 10, 2021

Roctavian, Potential Hemophilia A Gene Therapy, Get Fresh FDA Support

Hemophilia News Today

The U.S. Food and Drug Administration (FDA) has given regenerative medicine advanced therapy (RMAT) designation to Roctavian, an investigational gene therapy by BioMarin Pharmaceutical for severe hemophilia A. The designation is “a ... Read more

March 10, 2021March 10, 2021

Zolgensma Available Soon to Eligible SMA Type 1 Patients in England, Scotland

COVID-19 News, SMA News Today

The gene therapy Zolgensma was added to the list of medications available to eligible spinal muscular atrophy (SMA) type 1 patients through England’s and Scotland’s national health services (NHS). With a ... Read more

March 8, 2021March 9, 2021

Factor VII Treatment Eptacog Beta Now Under Review in Europe

Hemophilia News Today

The European Medicines Agency (EMA) has agreed to review an application by Laboratoire Francais du Fractionnement et des Biotechnologies, a French biopharmaceutical known as LFB, requesting the approval of eptacog ... Read more

March 5, 2021March 5, 2021

Foundation Supports Promising Preclinical Work in CMT

Charcot-Marie-Tooth News

The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT ... Read more

March 3, 2021March 4, 2021

NMSS Partnership Targets Autoimmune Disease Research

Multiple Sclerosis News Today

The National Multiple Sclerosis Society has joined forces with the diabetes-focused JDRF and the Lupus Research Alliance to fund research looking at common underlying mechanisms of autoimmune disease. Called “Decoding ... Read more

March 3, 2021March 3, 2021

CHMP Favors EU Approval of Evrysdi as 1st Oral, At-home SMA Treatment

SMA News Today

Evrysdi (risdiplam) has been recommended for approval in the European Union (EU) to treat spinal muscular atrophy (SMA) patients, ages 2 months and older, with a clinical diagnosis of type ... Read more

March 2, 2021March 2, 2021

Mental Rigidity in PWS Goes Beyond Intellectual Disability

Prader-Willi News

Adults with Prader-Willi syndrome (PWS) have greater mental rigidity than those with matching intellectual disability, but without the disease, and those with normal intellectual level, according to a study from France. ... Read more

March 2, 2021March 2, 2021

New Test Can Detect Antibodies That Limit ERT, Gene Therapy

Fabry Disease News

Freeline Therapeutics has developed a more robust test to detect the presence of neutralizing antibodies that affect the effectiveness of enzyme replacement therapy (ERT) or gene therapy in people with ... Read more

March 1, 2021March 2, 2021

Imcyse Raises €21.3M to Advance Treatments for MS, Other Diseases

Multiple Sclerosis News Today

Imcyse has raised €21.3 million ($25.8 million) in funding to advance its innovative immunotherapy platform for the treatment of multiple sclerosis (MS) and other severe autoimmune diseases. The funding was ... Read more

March 1, 2021March 1, 2021

Evrysdi Seen to Improve Survival, Motor Development of Infants with SMA Type 1

SMA News Today

Genentech’s Evrysdi (risdiplam) improved survival in infants with spinal muscular atrophy (SMA) type 1, and allowed them to achieve developmental milestones not usually seen in the natural course of the ... Read more

March 1, 2021March 1, 2021

USACFA Accepting Applications for Scholarships in Arts, Other Fields

Cystic Fibrosis News Today

The United States Adult CF Association (USACFA) is accepting applications to award a total of $15,000 in scholarships to four people with cystic fibrosis (CF)pursuing degrees in the creative arts ... Read more