Fragile X News Today

June 3, 2022June 3, 2022

Oral NNI-351 Awarded Orphan Drug Status by FDA

Fragile X News Today

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to NeuroNascent’s NNI-351 for the treatment of fragile X syndrome. NNI-351, given orally, is able to penetrate the ... Read more

May 27, 2022May 27, 2022

NNI-351 Earns Rare Pediatric Disease Designation From FDA

Fragile X News Today

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to Neuronascent‘s investigational therapy NNI-351 for the treatment of fragile X syndrome (FXS). “With vast unmet need ... Read more

May 13, 2022May 13, 2022

FMR1 Gene Renamed to Increase Accuracy and Remove Stigmatizing Language

Fragile X News Today

In an effort to both increase accuracy and remove offensive language in the name of FMR1 — the gene at the root of fragile X syndrome — the European Fragile ... Read more

May 6, 2022May 6, 2022

Study Supports Development of Preventive Treatments for FXTAS

Fragile X News Today

In people with fragile X-associated tremor/ataxia syndrome (FXTAS), a condition related to fragile X syndrome that develops late in life, measures of dexterity and memory tend to worsen markedly over ... Read more

April 29, 2022April 29, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Fragile X News Today

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

April 22, 2022April 22, 2022

Low Cholesterol in Cells’ Lipid Rafts May Add to Behavioral Differences

Fragile X News Today

Unusually low amounts of cholesterol in cellular structures called lipid rafts may contribute to behavioral differences seen in people with fragile X syndrome, a new study indicates. “The correlation between ... Read more

April 21, 2022April 21, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Fragile X News Today

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more

April 15, 2022April 15, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

COVID-19 News, Fragile X News Today

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues ... Read more

April 11, 2022April 11, 2022

Lovastatin, Minocycline Combined Helps Fragile X Behavior, Caregivers Report

Fragile X News Today

A combination of approved medicines — lovastatin and minocycline — significantly improved several behavioral characteristics in adults with fragile X syndrome, according to caregivers who participated in a Phase 2 ... Read more

April 1, 2022April 1, 2022

Aggression, Other Fragile X Behaviors Tend to Ease Over Teenage Years

Fragile X News Today

Behavioral problems such as hyperactivity and aggression are generally more frequent in younger children with fragile X syndrome, becoming less common as they grow through adolescence and journey toward adulthood, ... Read more

March 25, 2022March 25, 2022

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Fragile X News Today

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over ... Read more

March 18, 2022March 18, 2022

New Blood Sample Methods Link IQ Scores, FMRP Protein Levels

Fragile X News Today

A team led by researchers at Fulcrum Therapeutics has developed new methods to measure the FMRP protein in blood cells. Using these tests, the scientists showed that FMRP levels in ... Read more

March 18, 2022March 18, 2022

RaDaR Serves as Starting Point for Creating Rare Disease Registry

Fragile X News Today

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric ... Read more

March 11, 2022March 11, 2022

Zygel, Cannabidiol Gel Now in Phase 3 Trial, Named Orphan Drug in EU

Fragile X News Today

The European Commission has granted orphan drug designation to Zygel, Zynerba Pharmaceuticals’ cannabidiol (CBD) transdermal gel candidate to treat for behavioral symptoms in people with fragile X syndrome. Orphan designation ... Read more

March 8, 2022March 8, 2022

#RAREis Representation Program Promotes Equity, Diversity

Fragile X News Today

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; ... Read more