Updates

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
Phase 2 AVATAR Study Testing Anavex 2–73 for Rett Syndrome Doses First Patient in Australia
‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
MeCP2 Optimized for Brain Delivery Holds Promise as Protein Replacement Therapy for RTT, Early Study Suggests
Rettsyndrome.org Funds Research of Rett and MECP2 Syndromes
Stem Cells of Rett Mice Prone to Arrested Growth, Less Able to Produce Energy, Study Shows
Cannabidivarin Rescues Memory Deficits in Mouse Model of Rett, Study Shows
Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
Teeth Misalignment Linked to Swallowing Difficulties in Girls with Rett Syndrome, Study Says
New Phase 2 Study on Anavex 2-73 for Rett Syndrome Begins in Australia
#AANAM – Experimental Gene Therapy AVXS-201 Shows Promise to Treat Rett Syndrome in Preclinical Studies
Overabundance of Nerve Fibers in the Skin May Affect Pain Sensitivity, Study Suggests
Study in Rats Provides Clues to Nerve Cell Connectivity and Body Movement Control
Mutations Causing Rett Syndrome Lead to Changes in Several Genes, Study Finds
‘Minds Wide Open’ Documentary Highlights Advances in Brain Research
Early Protein Alterations May Drive the Development of Rett Biomarkers
Physical Therapy and Other Interventions May Prevent Motor Deterioration in Patients with Rett Syndrome, Case Report Finds
Phase 3 Trial for Trofinetide Planned After Positive Phase 2 Results in Rett Syndrome
Better Preclinical Practices Would Boost Success in Clinical Setting for Rett Syndrome Therapies, Review Says
Parents of Girls with Rett Syndrome Need More Information About Treatment, Study Says
Annual Zoledronic Acid Injection May Improve Bone Health in Children with Rett Syndrome
Phase 2 Trial Evaluating Anavex 2-73 for Rett Syndrome Doses First Patient
Mosaic Mutations May Hold Key to Understanding Rett’s Development
Study Reports Rising Trend Of Prenatal Genetic Tests For Rett Syndrome
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
Understanding of How Females Inherit Traits May Hold Key to Treatment of X-linked Disorders
Misregulation in NPCs’ Development Might be Implicated in Rett Syndrome, Study Says
WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
RettSyndrome.org Webinar Describes 2019 Research Priorities
StemoniX Develops 3D Human Microbrains of Rett Syndrome to Accelerate Therapy Development
Vienna to Host RARE2019 Meeting on Rare Diseases
Impaired Visual Search Affects Selective Attention in Rett Children, Study Shows
Basic Needs Take Up Large Chunks of Time in Daily Life of Teens and Young Adults with Rett Sydrome, Study Finds
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
Enrollment Complete for STARS Study of Sarizotan for Apnea in Rett Syndrome Patients
Rett Syndrome Research Trust Awards $10 Million to Researchers
Music Therapy Program Benefits Rett Patients, Parents, Study Shows
FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
Dentists Should be Aware of Oral Symptoms Related to Rett Syndrome, Study Recommends
Experiences with Rett Syndrome Described as ‘Obstacle Course’ by Caregivers, Study Shows
Girls with Rett Syndrome Display Atypical Brain Activity When Listening to Spoken Words, Study Finds
Rett Syndrome May Predispose Patients to High-fat Diets and Obesity, Study in Mice Finds
Adaptations Proposed to Help Assess Eye Tracking in Rett Syndrome Patients, Study Reports
Botulinum Toxin Reduces Excessive Drooling, Improves Oral Motor Function in Rett Syndrome Patients, Study Says
Anavex Proceeding with Phase 2 Trial to Assess Anavex 2-73 for Rett Syndrome

June 20, 2019
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their ... Read more
June 18, 2019June 18, 2019
Phase 2 AVATAR Study Testing Anavex 2–73 for Rett Syndrome Doses First Patient in Australia

The first patient has been dosed in Anavex Life Sciences’ AVATAR Phase 2 trial, taking place in Australia, and evaluating the safety and efficacy of Anavex ... Read more
June 18, 2019June 17, 2019
‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those ... Read more
June 13, 2019June 13, 2019
MeCP2 Optimized for Brain Delivery Holds Promise as Protein Replacement Therapy for RTT, Early Study Suggests

A recombinant version of MeCP2 — the faulty protein in Rett syndrome — has the potential to enter the brain, encouraging its development as ... Read more
June 11, 2019June 11, 2019
Rettsyndrome.org Funds Research of Rett and MECP2 Syndromes

Two scientists will receive a total of $850,000 to advance treatment and diagnostic projects in Rett syndrome and MECP2 Duplication syndrome. Rettsyndrome.org, a leading private ... Read more

Stem Cells of Rett Mice Prone to Arrested Growth, Less Able to Produce Energy, Study Shows
June 6, 2019June 6, 2019
Loss of MECP2, the defective protein in most people with Rett syndrome, induces premature ...
Cannabidivarin Rescues Memory Deficits in Mouse Model of Rett, Study Shows
June 4, 2019June 4, 2019
Cannabidivarin, a non-psychotic compound found in cannabis, fully rescued memory deficits and delayed the ...
Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
May 28, 2019June 4, 2019
With 250 rare diseases newly identified every year, scientists can barely keep up — ...
Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
May 27, 2019
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims ...
Teeth Misalignment Linked to Swallowing Difficulties in Girls with Rett Syndrome, Study Says
May 21, 2019May 21, 2019
Teeth malocclusion, or misalignment, is linked to severe dysphagia (difficulty in swallowing) in girls with ...
New Phase 2 Study on Anavex 2-73 for Rett Syndrome Begins in Australia
May 14, 2019May 14, 2019
A new Phase 2 clinical study to evaluate the investigational therapy candidate Anavex 2-73 ...

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#AANAM – Experimental Gene Therapy AVXS-201 Shows Promise to Treat Rett Syndrome in Preclinical Studies
May 10, 2019May 10, 2019
Preclinical data from mouse studies support initiating first-in-human clinical trials to explore the safety ...
Overabundance of Nerve Fibers in the Skin May Affect Pain Sensitivity, Study Suggests
May 2, 2019May 2, 2019
Some people with Rett syndrome have an overabundance of nerve fibers associated with the senses ...
Study in Rats Provides Clues to Nerve Cell Connectivity and Body Movement Control
April 30, 2019April 30, 2019
Mutations Causing Rett Syndrome Lead to Changes in Several Genes, Study Finds
April 23, 2019April 23, 2019
‘Minds Wide Open’ Documentary Highlights Advances in Brain Research
April 18, 2019April 18, 2019
Early Protein Alterations May Drive the Development of Rett Biomarkers
April 16, 2019April 16, 2019

Physical Therapy and Other Interventions May Prevent Motor Deterioration in Patients with Rett Syndrome, Case Report Finds
April 11, 2019April 11, 2019
Physical therapy and other medical interventions, together with daily support from family and caregivers, ...
Phase 3 Trial for Trofinetide Planned After Positive Phase 2 Results in Rett Syndrome
April 9, 2019April 9, 2019
Better Preclinical Practices Would Boost Success in Clinical Setting for Rett Syndrome Therapies, Review Says
April 4, 2019April 4, 2019
Parents of Girls with Rett Syndrome Need More Information About Treatment, Study Says
April 2, 2019April 2, 2019

Annual Zoledronic Acid Injection May Improve Bone Health in Children with Rett Syndrome
March 27, 2019March 27, 2019
One injection per year of zoledronic acid (sold under the brand name Reclast) can ...
Phase 2 Trial Evaluating Anavex 2-73 for Rett Syndrome Doses First Patient
March 21, 2019March 21, 2019
Mosaic Mutations May Hold Key to Understanding Rett’s Development
March 19, 2019March 19, 2019

Study Reports Rising Trend Of Prenatal Genetic Tests For Rett Syndrome
March 14, 2019March 14, 2019
A new study reports an increasing trend in the number of prenatal genetic tests ...
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
March 14, 2019
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ...
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 12, 2019March 11, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 7, 2019March 5, 2019
Rare diseases affect about 30 million Americans — roughly the same number as those ...
Understanding of How Females Inherit Traits May Hold Key to Treatment of X-linked Disorders
March 5, 2019March 5, 2019
Researchers have discovered the genetic mechanisms involved in female inheritance and X chromosome silencing. This process, ...
Misregulation in NPCs’ Development Might be Implicated in Rett Syndrome, Study Says
February 28, 2019February 28, 2019
Proteomic analysis — the characterization of all the proteins present in a cell at ...
WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 26, 2019February 25, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
RettSyndrome.org Webinar Describes 2019 Research Priorities
February 26, 2019February 26, 2019
Rettsyndrome.org is dedicated to funding research in every stage of development and every aspect ...
StemoniX Develops 3D Human Microbrains of Rett Syndrome to Accelerate Therapy Development
February 21, 2019February 21, 2019
Three-dimensional microbrains built in the lab using stem cells from Rett syndrome patients can ...

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