Posts by: Marta Figueiredo

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

March 1, 2021March 1, 2021

Orladeyo Recommended in EU as 1st Oral Treatment to Prevent HAE Attacks

Angioedema News

BioCryst Pharmaceuticals’ Orladeyo (berotralstat) has been recommended for approval in the European Union as the first oral therapy for preventing swelling attacks in people with hereditary angioedema (HAE), ages 12 ... Read more

February 26, 2021February 27, 2021

Lower C3, C4 Complement Proteins Levels Found in CAD Patients

Cold Agglutinin News

People with cold agglutinin disease (CAD) have significantly lower blood levels of C3 and C4 — two key molecules of the body’s innate complement immune system — than their healthy ... Read more

February 26, 2021February 26, 2021

Sanfilippo Linked for 1st Time With Changes in Blood Pressure

Sanfilippo News

Sanfilippo syndrome’s characteristic buildup — to toxic levels — of the complex sugar molecule heparan sulfate appears to affect the production of aldosterone, a hormone that controls blood pressure, leading to serious ... Read more

February 25, 2021February 26, 2021

Exon Skipping Dominates DMD Treatment, But What’s on Horizon?

Muscular Dystrophy News

With the recent approval of Amondys 45 (casimersen) by Sarepta Therapeutics, there are now four exon-skipping therapies available in the U.S. for eligible patients with Duchenne muscular dystrophy (DMD). The others are Exondys ... Read more

February 25, 2021February 26, 2021

FDA Approves Amondys 45 for Duchenne Patients With Exon 45 Mutation

Muscular Dystrophy News

The U.S. Food and Drug Administration (FDA) has conditionally approved Amondys 45 — formerly known as casimersen — by Sarepta Therapeutics as the first treatment for people with Duchenne muscular dystrophy (DMD) amenable to exon 45 ... Read more

February 24, 2021February 24, 2021

Cushing’s Found to Cause ‘Persistent Mental Health Problems’ in Patients

Cushing's Disease News

For years before and after their diagnosis, people with Cushing’s disease use more psychotropic medications — those that affect mood, thoughts, or perception — for mental health problems than their ... Read more

February 23, 2021February 24, 2021

FDA OKs Pivotal Trial Testing RheOx System in Chronic Bronchitis

COPD News Today

The U.S. Food and Drug Administration (FDA) has cleared the start of an international pivotal trial to test the RheOx System, Gala Therapeutics’ medical device, in adults with chronic obstructive ... Read more