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Understanding Breathing problems in Rett Syndrome

Breathing problems are a major challenge in patients with Rett syndrome (RS) and they are more apparent in day-time but irregular breathing issues can be noticed during sleep too. During day-time patients can show episodes of hyperventilation and irregular hyperventilation patterns which can vary in severity, onset, duration and type of the breathing issues.Many times the breathing issues or abnormalities are mistaken as epileptic seizures which can lead to child being administered inappropriate medicines. So it is important to understand the type of breathing issues which are mostly reported in patients with RS to manage the same properly. 

Different types of breathing irregularities has been reported in the RS patients including hyperventilation, Hypo-ventilation, breath holding episodes, apnoeas, apneustic breathing, valsalva manoeuvres, periodic breathing and tachypnoea (abnormally rapid breathing). It is important to understand these type of irregularities and what effects they can have on the child.

In apneustic breathing the girls are breathing in but they fail to breathe out on regular intervals and the types of abnormalities included in this category are long breath holding episodes, repeated short breath holding and longer inhaling episodes. As per literature, the RS girls with apneustic breathing responds to drugs.

In forceful breathing the girls are doing forceful inhaling and exhaling of the air and they would often lose a good amount of carbon dioxide from their bloodstream. In this type, the breathing may stop leading to symptoms like epileptic stiffness of the limbs. The skin may turns white and the body may becomes floppy or their face/lips may turn blue. Breathing abnormalities included in this category are hyperventilation, deep breathing and tachypnoea (abnormally rapid breathing). These type of breathing issues does not respond to drugs, but there may be a requirement to raise the level of carbon dioxide in the bloodstream back to normal.

The girls with feeble breathing are shallow breathers that means the movements of the abdomen and chest so shallow/small that parents may think that the girl has stopped breathing. Sometimes the girls indeed do stop breathing briefly. The major effect seen in patient due this type of breathing is rise of carbon dioxide in the blood, which will ultimately excite the brainstem. Most of the time there is enough oxygen supply to the body in this type of breathing but the girl's face and lips may turn blue due to lack of oxygen. Careful attention should be given before giving any medication to the feeble breather so that medicine should not aggravate the situation. Feeble breathers can tolerate medicines related to general anesthesia as long as drugs which can depress respiration are avoided. Current research is more focused on these kind of breathing abnormalities to understand whether this type of breathing responds to drugs or not. 

Valsalva’s type of breathing is forceful breathing leading to an increase of pressure in the chest and the lungs, reducing the blood flow to the heart. This has more severe effect on the brainstem. This kind of breathing can result in  dizziness, unsteadiness, and wandering eyeballs and also affects the blood pressure. Sometimes the symptoms of this kind of breathing irregularities are confused with epileptic seizures and this kind of irregularities does not respond to medications. There are periodic changes in the EEG along with severe drop in blood pressure in some of the girls which can be mistaken for abnormal changes in the EEG due to seizures

11TH ANNUAL RETT SYNDROME AWARENESS MEETING AND SYMPOSIUM

The month of October is marked as “Rett Syndrome Awareness Month” all around the world. Indian Rett syndrome Foundation have been organizing the awareness programs for Indian Rett families and healthcare professionals from last ten years and these have proved to be great success because of support of Rett Families, Doctors, Scientists and Researchers.

            This year IRSF is organizing and sponsoring its 11th annual Awareness meeting and symposium on “14th October 2018”. In this meeting, parents will be coming from all parts of India and the parents will get a chance to connect and interact with each other and share their views/suggestions/queries with each other and with Doctors/Scientists/therapists who will also be taking part in this meeting.

Date and Venue of the meeting:

Date: 14th October 2018 (Sunday)

Time: 09.00 am – 05.00pm

Venue: Conference Hall, 4th Floor, Dr. M.V.Govindaswamy Seminar Hall,
             NIMHANS, Hosur Road, Near Bangalore Milk Dairy, Bangaluru,                                Karnatka-560029

Who can Attend:

Parents, Doctors, Scientists, Researchers, Caregivers, Therapists, Relatives, Students

We hope that this year again, the meeting will get your support. So kindly join us for this cause. We are also looking forward for participation of Volunteers and Sponsors for this event. Please do reach us at below mentioned contacts to register for the event. 

Thanks, Regards,

IndianRett Syndrome Foundation

Website: www.rettsyndrome.in
                 www.irsf.in

E-mail: info.rett@yahoo.com

              info@rettsyndrome.in

8TH ANNUAL RETT SYNDROME AWARENESS MEETING AND SYMPOSIUM (NEW DELHI, INDIA)

The month of October is marked as “Rett Syndrome Awareness Month” all around the world. Indian Rett syndrome Foundation have been organizing the awareness programs for Indian Rett families and healthcare professionals from last four years and these have proved to be great success because of support of Rett Families, Doctors, Scientists and Researchers.

            This year IRSF is organizing and sponsoring its 8th annual Awareness meeting and symposium on “25th October 2015”. In this meeting, parents will be coming from all parts of India and the parents will get a chance to connect and interact with each other and share their views/suggestions/queries with each other and with Doctors/Scientists/therapists who will also be taking part in this meeting.

Date and Venue of the meeting:

Date: 25th October 2015 (Sunday)

Time: 09.00 am – 6.00pm

Venue:

Lecture Theater 1, Teaching block, First Floor, 

Safdarjung Hospital-Vardhman Mahavir Medical College, Mahatama Gandhi Mrag, Raj Nagar, Ansari nagar west, New Delhi-110029

LANDMARK: ENTER FROM GATE NO. 7 OF THE SAFDARJUNG HOSPITAL, RED BRICK BUILDING

Who can Attend:

Parents, Doctors, Scientists, Researchers, Caregivers, Therapists, Relatives, Students

We hope that this year again, the meeting will get your support. So kindly join us for this cause. We are also looking forward for participation of Volunteers and Sponsors for this event. Please do reach us at below mentioned contacts to register for the event. 

Thanks, Regards,

IndianRett Syndrome Foundation

Website: www.rettsyndrome.in

E-mail: info.rett@yahoo.com

              info@rettsyndrome.in

RSRT Awards $5.8 Million For Research and Two Clinical Trials

Clink on the link to read the full details:

https://rettsyndrome.wordpress.com/2015/02/06/rett-syndrome-research-trust-awards-5-8-million-to-advance-the-development-of-treatments-and-cures-for-rett-syndrome-and-mecp2-disorders/

Source/Courtesy: Rett Syndrome Research Trust Blog

Research from Harvard University Points to Potential New Avenue for Treatment of Rett Syndrome

Every cell in our body contains the same genes. Yet a brain cell is distinctly different from a heart cell or a liver cell. What differentiates these cells are the genes that are either silenced or active and the degree of activation of the genes, also known as expression.

Scientists have known for many years that the “Rett protein”, MeCP2, regulates the expression of other genes. The big question has been, which genes?

Michael Greenberg of Harvard University, and his lab members Harrison Gabel and Benyam Kinde, may have an answer: long genes. The journal, Nature, is publishing this finding today.

Genes are made up of nucleotides (think back to high school biology: A,T,C,G) The average gene has about 20,000 nucleotides, but some have as many as a million. The scientists in the Greenberg lab found that the MeCP2 protein acts as a dimmer switch, dampening the expression of long genes. When the MeCP2 protein is absent, as in the case of Rett, with no dimmer switch to regulate it, long gene expression goes up. Any deviation from the normal expression pattern causes problems.

From this finding, the scientists suggest that Rett Syndrome may be caused by a widespread overexpression of long genes.

You may be asking yourself, why does this matter? It matters because there is a drug that can rebalance the expression levels of long genes. The Greenberg lab has already tested this drug in cells missing the MeCP2 protein with encouraging results. Experiments are now underway to test the drug in Rett mice.

This is a promising development. We are providing the following resources to help you understand the progress being reported today.

https://rettsyndrome.wordpress.com/2015/03/11/research-from-harvard-university-points-to-potential-new-avenue-for-treatment-of-rett-syndrome/

Source/Courtesy: Rett Syndrome Research Trust Blog

RSRT Awards $530,000 to Neurolixis for Clinical Development of NLX-101

Rett Syndrome Research Trust (RSRT) recently awarded $530,000 to Neurolixis, a small biotech firm in southern California that is developing the drug, NLX-101, to treat breathing abnormalities in people affected by Rett Syndrome. The drug targets a specific serotonin receptor (5-HT1A) located in regions of the brain that affect respiration, mood and cognition.  It’s possible that, beyond breathing, the drug may also improve other core symptoms such as anxiety and movement disorders.

Neurolixis has already obtained Orphan Drug status for NLX-101 in both the US and in Europe. This designation provides the company with certain financial incentives as part of the Orphan Drug Act.  

Previous RSRT funding to Neurolixis focused on studies to determine dosage levels for human studies. The next step is for Neurolixis to file an Investigational New Drug (IND) application with the FDA before clinical testing of the drug can begin.

The current award will be used to manufacture and characterize clinical supplies of NLX-101, and to prepare regulatory documents for submission to the FDA. The goal is to have the IND submitted to the FDA within a year.  Once the IND is open, Neurolixis will test the safety, tolerability and pharmacokinetics (the time course of the drug’s absorption, bioavailability, distribution, metabolism and excretion) in healthy volunteers and in people with Rett.

By supporting this program, RSRT will help Neurolixis “de-risk” the project and make it more attractive to investors, who can support the next stage of development and expedite the process. 

https://rettsyndrome.wordpress.com/2015/06/24/rsrt-awards-530000-to-neurolixis-for-clinical-development-of-nlx-101/

Source/courtesy: Rett Syndrome Research Trust Blog

Rett Syndrome Awareness 'Family Get Together' on 3rd August, 2013

Indian Rett Syndrome Foundation (IRSF) invites and welcomes all Rett syndrome families of New Delhi along with their relative, friends and caretakers of Rett Angels to join us for family get together on 03 August, 2013 at McDonald, Rajouri Garden, New Delhi. For more details,

Download the brochure (Download)

Highlight of the day: Ronald McDonald, Chief happiness officer of McDonald will come to greet all the Rett Angels and their sibs.

IRSF team is looking forward to meet you all for this get together.

Website: http://www.rettsyndrome.in/newsEvents.html

Neuren Pursues New Drug for RTT

Pursuing the first Investigational New Drug (IND) for Rett syndrome:

Neuren Pharmaceuticals announces a program to the FDA about a proposed Rett syndrome clinical trial

Link to original Research Flash

This month Neuren Pharmaceuticals Ltd held a pre-IND meeting with the FDA Division of Neurology Products to discuss clinical development plans for the NNZ-2566 Rett Syndrome program. The company requested the meeting to seek input and guidance from the FDA for the first clinical trial in older patients with Rett syndrome. The Investigational New Drug application is the precursory step before starting a clinical trial. Other than FDA staff, participants in the meeting included:

• Dr. Daniel Glaze, Professor, Baylor College of Medicine, and Medical Director of the Blue Bird Circle Rett Center at Texas Children’s Hospital
• Dr. Jeffrey Neul, Associate Professor, Baylor College of Medicine, and Assistant Medical Director of the Blue Bird Circle Rett Center at Texas Children’s Hospital
• Dr. Mike Snape, Chief Scientific Officer, Autism Therapeutics Ltd
• Dr. Steven Kaminsky, Chief Science Officer, International Rett Syndrome Foundation
• Dr. Joseph Horrigan, Assistant Vice President and Head of Medical Research, Autism Speaks
• David Zuchero, Chesapeake Regulatory Group (Neuren’s US regulatory agent)
• Larry Glass, Neuren CEO

What is NNZ-2566?

NNZ-2566 is a drug that Neuren developed with the Department of Defense to treat mild Traumatic Brain Injury (mTBI) and has been shown to have great success in mTBI animal models. Neuren also tested NNZ-2566 in Rett mice and it has significant effects on lengthening neurons and maintaining synaptic connections in the Rett mice. These are very exciting studies that suggest there is a potential to increase the plasticity (or rewiring) of the Rett brain to reverse Rett symptoms.

Why is this exciting for the Rett community?

Neuren Pharmaceuticals has joined with the Baylor College of Medicine to test NNZ-2566 in a proposed Phase I and Phase IIa clinical trial. This proposed trial, along with the IGF-1 trial at the Children’s Hospital in Boston, are trials designed to investigate whether these compounds can reverse some of the symptoms of Rett syndrome and modify the progression of the disorder in our Rett children. This announcement portrays the importance of partnerships between industry, academia, and private foundations like IRSF to accelerate bringing forward clinical trials specific to Rett syndrome.

For more information concerning their announcement please see the Neuren press release at neurenpharma.com.

If you have questions about this program please contact Paige Nues, Director of Family Support, or Jennifer Endres, Family Resource Manager, at The International Rett Syndrome Foundation (email: admin@rettsyndrome.org).

Click on this link

Source: Internationa Rett Syndrome Foundation

Phase 2 Clinical Trial Study of IGF-1

IRSF Announces Funding to Boston Children’s Hospital for the Phase 2 Clinical Trial Study of IGF-1 for Rett Syndrome

The International Rett Syndrome Foundation (IRSF) is pleased to announce the approval of funding to Dr. Walter Kaufmann and the Boston Children’s Hospital (CHB) for the second phase of the IGF-1 clinical trial for treatment of Rett syndrome.

The project entitled “A Phase 2b placebo-controlled crossover study of rhIGF1 (mecasermin [DNA] injection) for treatment of Rett syndrome and development of Rett-specific novel biomarkers of cortical and autonomic function” was submitted under IRSF’s Translational Research ANGEL (Advanced Neurotherapeutic Grant of Excellence) grant award mechanism. The application had undergone an extensive, rigorous review by a distinguished scientific review committee, and a programmatic review by Dr. Steve Kaminsky, IRSF Chief Science Officer, who moved to recommend the application for funding. The IRSF Board of Directors (comprised mainly of parents of children with Rett syndrome) unanimously voted to approve funds in the amount of $600,000.

Prior support from IRSF and Autism Speaks allowed CHB and then Principal Investigator (PI), Dr. Omar Khwaja to successfully complete the Phase 1 study that involved the safety and tolerability of IGF-1 use in patients diagnosed with Rett syndrome. The Phase 2 study will continue to investigate the efficacy of IGF-1 in a larger cohort of Rett patients (30) in a double-blind placebo-controlled cross-over trial.

IRSF is excited to work with Dr. Kaufmann who is now the PI heading this study and is also the Director of the Rett Syndrome Program at CHB. By supporting this project, IRSF continues to accelerate and develop treatments for Rett syndrome.

For questions about this Phase 2 Trial, please contact Theresa Trapilo of CHB for more information. EmailTheresa.Trapilo@childrens.harvard.edu.

Source: International Rett Syndrome Foundation