OUR GOAL

To Cure Retinitis Pigmentosa in Usher Syndrome type 1B

Imagine, for a second, having to deal with the world without any sound, without balance, and without sight.

Usher Syndrome Type 1B is a genetic disorder that deprives children of their hearing and balance from the moment they are born. Their eyesight also quickly deteriorates until they become completely blind. Usher Syndrome is the most common cause of deaf-blindness, causing 50% of cases around the world.

Save Sight Now Europe’s goal is to find a cure for Retinitis Pigmentosa, the cause of blindness related to Usher Syndrome.

We strive to reach a point in which people living with Usher Syndrome Type 1B, a widely neglected community, don’t lose their sight, which is an essential sense to experiment and experience the world around them. We know that this is possible because successful treatments for other kinds of retina conditions have already been approved by the Food and Drug Administration (FDA).

To that aim, and following the steps of Save Sight Now, Save Sight Now Europe collaborates with the main world organization of hereditary retinal disorders, Foundation Fighting Blindness, in order to identify and financially support medical research that can save the sight of thousands of children and adults that are quickly losing their eyesight every single day.

Even though most of the research efforts we will be financing can benefit all three types of Usher, we will prioritise treatments for Usher Syndrome Type 1B, since it is the most severe and virulent form of this Syndrome and is type that concern and affects our children.

OUR STORY

Bruna, Our Driving Force

Bruna was born in Geneva (Switzerland) on October 2020. Those first days were very intense and, inside the whirlpool of being new parents, still at the hospital, a nurse performing an aural screening test kept saying “it is not going through”, every time she stopped by our room to perform it. Our daughter’s hearing did not respond. However, no one seemed bothered by it: babies may still have amniotic fluid inside their ears, there was no risk of a virus, no family history… She had tiny ears and the device they were using for the test did not even fit inside them.

After 4 months, they performed a test of auditory evoked potentials (AEP). It was on that day, two hours after performing the test, when we were told that our daughter did not hear any high pitched sounds. No answer in high pitch sounds. High pitch sounds define consonants. Consonants are what make language, messages, and communication in general comprehensible.

Our hearts froze for the first time. Bruna was only 4 months old. The world crumbled in front of us. Would our daughter be able to communicate? Would she be able to speak? How would she hear? Would she be able to hear at all? Will she ever hear? Will she be able to hear our voices in a soft and beautiful way? And music? I had been singing to her from the moment I found out she was inside me. On that day our souls faded.

The next few months were full of adjustments to check if we were lucky and Bruna could manage with hearing aids only. They were months of getting used to the idea of accepting and embracing the situation with all our love. We could see Bruna was reacting to stimuli, and that gave us hope. Her energy, her laugh, her happiness is what makes our lives full.

Meeting Justin Rosalyn and Lia, the Trotochaud family, Dominique, Carolien, Jackson and family, the Meyers, Jo Milne, Ava’s mother, and families all around the world with whom we are in touch every single day, has opened our perspective to a new world, a world where we need to find a cure for everyone that is losing the gift of sight every day. From Save Sight Now Europe we will keep working every day, racing against time, so that our goal becomes a reality.

Join Save Sight Now Europe’s fight. We need you.

Image by Maud Chablais

Finally, on 26th July 2021, we had appointments with different doctors. One of them was with the geneticist, who had performed a test on us because, after detecting something on Bruna’s genetic test, she wanted to compare it to ours.

26th July 2021. The date that, without any doubt, has changed our lives drastically: Bruna needs cochlear implants, the hearing aids are not enough. Bruna does not have any vestibular response, she has balance problems. Bruna has the MYO7A mutation that explains the hearing loss, the balance issues, and means that she most likely will be losing her sight during the next few years.

Bruna is diagnosed with Usher Syndrome Type 1B. A rare disease, a recessive inherited disease that we, her parents, had given to her. A disease that we had bypassed, but not our daughter. The world, this time for real, EVERYTHING suddenly crumbles and freezes completely. On the one hand, the implants will allow her to hear (they perform very well with this diagnostic), we think we will be able to grant her the gift of sound. However, on the other hand, vision and balance issues are not treatable. They are not treatable yet.

Bruna smiles at us, she keeps smiling every day, and she is a happy, intelligent, smart and curious child. She is resolute, strong-willed and very eager to communicate. In front of so much BEAUTY we, her parents, are met with such a strong force to FIGHT AND WORK fiercely, to help the scientific world to find a treatment for Bruna. We know it is possible, we know we must persevere and take their research to the last phases of clinical trials, and that takes a lot of work, a lot of money, and a lot of luck. Therefore, we cannot stop working on what we know can be a reality.

OUR STORY

Bruna, Our Driving Force

Bruna was born in Geneva (Switzerland) on October 2020. Those first days were very intense and, inside the whirlpool of being new parents, still at the hospital, a nurse performing an aural screening test kept saying “it is not going through”, every time she stopped by our room to perform it. Our daughter’s hearing did not respond. However, no one seemed bothered by it: babies may still have amniotic fluid inside their ears, there was no risk of a virus, no family history… She had tiny ears and the device they were using for the test did not even fit inside them.

After 4 months, they performed a test of auditory evoked potentials (AEP). It was on that day, two hours after performing the test, when we were told that our daughter did not hear any high pitched sounds. No answer in high pitch sounds. High pitch sounds define consonants. Consonants are what make language, messages, and communication in general comprehensible.

Our hearts froze for the first time. Bruna was only 4 months old. The world crumbled in front of us. Would our daughter be able to communicate? Would she be able to speak? How would she hear? Would she be able to hear at all? Will she ever hear? Will she be able to hear our voices in a soft and beautiful way? And music? I had been singing to her from the moment I found out she was inside me. On that day our souls faded.

The next few months were full of adjustments to check if we were lucky and Bruna could manage with hearing aids only. They were months of getting used to the idea of accepting and embracing the situation with all our love. We could see Bruna was reacting to stimuli, and that gave us hope. Her energy, her laugh, her happiness is what makes our lives full.

Image by Maud Chablais

Finally, on 26th July 2021, we had appointments with different doctors. One of them was with the geneticist, who had performed a test on us because, after detecting something on Bruna’s genetic test, she wanted to compare it to ours.

26th July 2021. The date that, without any doubt, has changed our lives drastically: Bruna needs cochlear implants, the hearing aids are not enough. Bruna does not have any vestibular response, she has balance problems. Bruna has the MYO7A mutation that explains the hearing loss, the balance issues, and means that she most likely will be losing her sight during the next few years.

Bruna is diagnosed with Usher Syndrome Type 1B. A rare disease, a recessive inherited disease that we, her parents, had given to her. A disease that we had bypassed, but not our daughter. The world, this time for real, EVERYTHING suddenly crumbles and freezes completely. On the one hand, the implants will allow her to hear (they perform very well with this diagnostic), we think we will be able to grant her the gift of sound. However, on the other hand, vision and balance issues are not treatable. They are not treatable yet.

Bruna smiles at us, she keeps smiling every day, and she is a happy, intelligent, smart and curious child. She is resolute, strong-willed and very eager to communicate. In front of so much BEAUTY we, her parents, are met with such a strong force to FIGHT AND WORK fiercely, to help the scientific world to find a treatment for Bruna. We know it is possible, we know we must persevere and take their research to the last phases of clinical trials, and that takes a lot of work, a lot of money, and a lot of luck. Therefore, we cannot stop working on what we know can be a reality.

Meeting Justin, Rosalyn and Lia, the Trotochaud family, Dominique, Carolien, Jackson and family, the Meyers, Jo Milne, Ava’s mother, and families all around the world with whom we are in touch every single day, has opened our perspective to a new world, a world where we need to find a cure for everyone that is losing the gift of sight every day. From Save Sight Now Europe we will keep working every day, racing against time, so that our goal becomes a reality.

Join Save Sight Now Europe’s fight. We need you.

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What is Usher Syndrome?

It is an inherited autosomal recessive disorder transmitted from parents to children. It only manifests in 25% of the cases when both parents are carriers of the mutation.

There are 3 types of Usher, divided by severity:

Type 1 is the most severe form of the three, it profoundly affects hearing and balance since birth, with sight being affected during late childhood. Types 1 and 3 cause big balance problems due to vestibular dysfunction. Type 2 has a slower progression, and people that suffer from it lose their sense of hearing and their sight later in life.

Usher Syndrome is the most frequent cause of deaf-blindness in children. It accounts for between 3 and 6% of all child deafness. 50% of deaf-blind people in first world countries suffer from this syndrome. Its estimated prevalence is around 6-17/100,000.

Usher Syndrome is a rare disease first described in 1958.

Usher Syndrome type 1B:

It is characterized by affecting three main senses: hearing, sight and balance.

Congenital bilateral profound deafness: children are born with profound deafness. Cochlear implants are a solution for these children to have access to hearing and verbal communication

Rapid vision loss: the speed of deterioration of the retina in Type 1 cases will start showing before the child reaches puberty. It causes nocturnal blindness during the first stages of the disease (around the age of 5) followed by the loss of daytime peripheral vision due to Retinitis Pigmentosa (RP).

Abnormalities of the vestibular system: children affected by Type 1 (and 50% of Type 3) suffer from absence of balance because the semicircular canals in the inner ear have been affected. This leads to a delay in the beginning of the sitting position, the beginning of walking and in all the children’s physical activities (jumping, running, playing…), and affects mobility for the rest of their lives. The lack of balance can be compensated by different inputs: vision and proprioception (contact of the body with surfaces). As visual acuity decreases due to the progression of Retinitis Pigmentosa, balance problems increase.

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Research We Support

Martha Neuringer

PhD

OSHU and Cassey Eye Institute

CREATION AND CHARACTERIZATION OF A NON-HUMAN PRIMATE USH 1B MODEL.

Dr. Neuringer and her colleagues are using the gene-editing technique CRISPR/Cas9 to develop large animal models of Usher syndrome type 1B, which is caused by mutations in the gene MYO7A. Better translational models are urgently needed for USH1B to facilitate understanding pathogenetic processes and test potential therapies. Nonhuman primates best mirror human retina anatomy and function by having a macula and fovea, as well as photoreceptor calyceal processes that are a major site of dysfunction in Usher syndrome but are absent in rodents. As of May 2022, Martha and her team have successfully created an USH1B NHP model that is expressing all three phenotypes associated with Usher syndrome type 1B: 1) balance issues 2) bilateral profound hearing-loss 3) early onset of retinal degeneration.

Martha’s program requires sustained funding to care for this new primate – Gema – as well an entire cohort of primates in order to ensure the process is replicable.

Mark Pennesi

Md, PhD

OSHU and Cassey Eye Institute

CREATION OF USH1B RETINAL ORGANOIDS TO DEVELOP CRITICALLY NEEDED THERAPIES

Mark Pennesi and his team will develop translational human retinal organoid models of USH1B retinal degeneration to

  1. Uncover previously unknown molecular disease mechanisms,
  2. Determine the optimal window for gene therapy, and
  3. Optimize therapeutic interventions for USH1B.

Resulting therapies will lead to future testing in larger animal models.

Institut de la Vision

Paris

Isabelle Audo, Deniz Dalkara, Aziz El Amraoui and Serge Picaud

DEVELOPMENT OF GENE THERAPIES BASED ON UNDERSTANDING OF USH1B PATHOGENESIS

This is a large 5 year, multi-track project funded by Save Sight Now and the Foundation Fighting Blindness. This project is designed to bring together basic scientific discoveries as well as innovative therapeutic interventions to ensure timely fulfillment of two main objectives:

  1. USH1B genotype-phenotype correlations, disease natural history study (Light4Deaf) and USH1B molecular signatures, and
  2. The development of gene therapies based on understanding of USH1B pathogenesis.

Wolfrum Lab, Inst. of Molecular Physiology & JGU

Mainz

Uwe Wolfrum and Kerstin Wolfrum

CHARACTERIZATION OF NATURALLY OCCURRING USH1B PIG MODEL

This a 3 year program funded by Save Sight Now. The Wolfrums have made an incredible discovery of a naturally occurring USH1B pig model and are breeding and supporting an USH1B pig colony in order to study, characterize and establish a porcine model for Usher syndrome type 1B, to later use for testing new therapies.

Save Sight Now United States

Save Sight Now is an organization created in the United States by Justin and Rosalyn Porcano. They, under the umbrella of the Foundation Fighting Blindness (one of the biggest organizations fighting blindness in the world) work to fund medical research aimed at finding treatments that can save the sight of thousands of children with Usher syndrome, who will gradually lose vision throughout his childhood due to Retinitis Pigmentosa (RP). Save Sight Now aims to prevent this from happening.

In its three years of existence, Save Sight Now has collected more than a million dollars, which have been allocated to fund projects that accelerate the development of a cure for Usher syndrome: a natural study of Usher 1B, the creation of animal models, artificial retinas and the validation of genetic treatments.

For more information, for any question or to make a donation please contact Save Sight Now by clicking on the logo on the right or through this link savesightnow.org

Contribute to our Current Campaign!

Together we can make science advance and find a treatment for Usher syndrome type 1B.