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    On June 6-7, the Choroideremia Research Foundation (CRF) hosted its 2019 International Choroideremia Symposium in Philadelphia, Pennsylvania.  With the support of the Center for Advanced Retinal and Ophthalmic Therapeutics at the University of Pennsylvania, CRF developed an agenda geared toward answering key questions raised by ongoing research, and developing consensus opinion on paths forward for the organization and its community.  The Symposium was attended by 20 international experts in CHM from 5 countries in addition to representatives from biotech industry and the patient community to bring multiple perspectives toward the singular goal of developing treatments to end blindness.

    The Symposium was held using an open moderated discussion format, engaging all in attendance to help discuss topics and answer questions using the collective expertise of those in attendance.  The first day focused on pre-clinical topics which could provide better understanding of disease mechanisms and, in corollary, additional avenues toward the development of new therapies.  Much discussion revolved around the underlying mechanisms of retinal cell dysfunction and death in CHM, which like many retinal diseases requires additional investigations.  The group discussed a series of potential therapeutic approaches including the use of stem cells, neuroprotective agents, optogenetics, and reversal of the normal aging process in cells, and how research on these approaches could be supported.  Discussions on day 2 of the Symposium reviewed ongoing natural history studies and clinical trials, bringing together leaders in these respective areas to identify lessons learned from these trials and potential next steps.  Lastly, a robust discussion was held to begin developing a classification system to stage the progression of CHM in patients, as well as the ideal outcome measures to be used in future clinical trials.

    “The 2019 International Choroideremia Symposium was a tremendous success,” says Christopher Moen, Chief Medical Officer of CRF.  “The topics reviewed at the Symposium identified several opportunities for research projects which could drive CHM toward future therapies that could work alongside gene replacement therapy.  We’re excited at the future of CHM research and fortunate to have such tremendous support from our medical and scientific community.”

    About the Choroideremia Research Foundation

    CRF was founded in 2000 as a fundraising and patient advocacy organization to stimulate research on CHM. Since its inception, the CRF has provided over $2 million in research awards and is the largest financial supporter of CHM research worldwide. Research funded by the CRF has led to the development of a CHM animal model, the pre-clinical production of gene therapy vectors currently in clinical trials, and the CRF Biobank which stores tissue and stem cell samples donated by CHM patients.

  • 4DMT and ROCHE Expand Ophthalmology Partnership to Develop and Commercialize Multiple AAV Gene Therapy Products May 2, 2018

    4D Molecular Therapeutics (4DMT), a leader in Therapeutic Vector Evolution for adeno-associated virus (AAV) gene therapy vector discovery and product development, today announced the expansion of its 2016 research agreement with F. Hoffmann-La Roche Ltd and Hoffmann-La Roche Inc. into a broad long-term partnership to develop and commercialize multiple ophthalmology products.

    The expanded agreement will allow each company to leverage its primary strengths to bring highly-optimized gene therapeutics to ophthalmology patients as expeditiously as possible. 4DMT will be responsible for vector discovery and optimization, product design and engineering, pre-clinical and early-stage clinical development, including manufacturing activities, while Roche will conduct pivotal clinical trials and commercialize the new therapeutics globally.

    4DMT’s intravitreally-delivered choroideremia clinical candidate, 4D-110, is the first collaboration program; IND-enabling studies and activities are underway. Additional clinical candidate development programs are underway to treat retinal diseases with high unmet need.

    “Together we elected to expand our partnership after 4DMT completed proprietary intravitreal vector discovery and characterization. We have created clear synergies between 4D’s vector discovery, gene therapy development and manufacturing capabilities and Roche’s expertise in late-stage clinical development and global biologics commercialization. The decision to expand our partnership represents validation of our ophthalmology platform, clinical candidates and team,” said David Kirn MD, CEO and co-founder of 4DMT.

    “This expanded partnership could prove a major catalyst to bring new therapies for blinding retinal disorders. 4D’s gene therapy technology and Roche’s expertise in biologics and should be a powerful combination,” says Jeffrey S. Heier, MD, Co-President and Medical Director, Ophthalmic Consultants of Boston.

    “The expansion of this partnership holds promise for accelerating treatments for our patients with retinal diseases,” says Dr. Stephen Rose, Chief Scientific Officer of Foundation Fighting Blindness, positioned as the largest non-governmental/non-commercial supporter of R&D for inherited retinal degenerations.

    “The prospect of an intravitreally-delivered gene therapy for choroideremia could potentially benefit the whole population of patients with this condition,” explains Ian MacDonald MD, Professor in the Department of Ophthalmology and Visual Sciences, University of Alberta.

    Affecting approximately 200,000 patients in the US and similar numbers in Europe, inherited retinal diseases are, collectively, a major cause of adult and childhood blindness. Mutations in more than 200 genes are known to cause these rare, orphan conditions for which there are currently few approved therapies. More common diseases of the retina affect several million patients in the US and EU.

    About 4D Molecular Therapeutics (4DMT)

    4DMT is focused on the discovery and development of targeted and proprietary AAV gene therapy products for use in patients with severe genetic diseases with high unmet medical need. Our robust discovery platform, termed Therapeutic Vector Evolution, empowers us to create customized gene delivery vehicles to deliver genes specifically to any tissue or organ in the body, by optimal clinical routes of administration, at manageable doses and with resistance to pre-existing antibodies. These proprietary and targeted products may be developed to treat both rare genetic diseases and large market complex diseases. 4DMT is creating a diverse and deep product pipeline through its own internal 4D products, as well as through partnered programs.

    4DMT patient advocacy organization partners in ophthalmology include Foundation Fighting Blindness and Choroideremia Research Foundation.

    About 4DMT’s Therapeutic Vector Evolution

    Gene therapy has shown promise for the treatment of rare diseases, yet current clinical stage gene therapy products are not targeted and are generally based on one of a few AAV vectors that are “naturally-occurring” or “wild-type”, meaning they were found in nature (e.g. as laboratory contaminants or as monkey infections). These first-generation AAV vectors, while generally safe and well-tolerated in patients, do not have targeted or optimized delivery properties and often require aggressive and/or invasive injection at high doses to attempt the desired transduction of target cells in the body. 4DMT is advancing the field of AAV vector technology by deploying principles of evolution and natural selection to create vectors that efficiently and selectively target the desired cells within the diseased human organ via clinically optimal routes of administration, at manageable doses and with resistance to pre-existing antibodies in the population. Our Therapeutic Vector Evolution platform deploys an estimated 100 million unique AAV variants with extensive diversity, from over 35 unique and proprietary 4DMT AAV vector libraries. After defining the Target Product Profile, and the associated Target Vector Profile, 4DMT then applies proprietary methods to identify lead vectors for the specific Target Vector Profile from within our AAV libraries. The result is a customized, novel, and proprietary pharmaceutical-grade product uniquely designed for targeted therapeutic gene delivery and efficacy in humans.

  • Nightstar Announces First-Ever Phase 3 Choroideremia Gene Therapy Trial March 26, 2018

    Nightstar Therapeutics has announced the initiation of the company’s STAR Phase 3 registrational trial to study the safety and efficacy of NSR-REP1 in patients with choroideremia. In data from 32 patients treated with NSR-REP1 across four open-label Phase 1/2 clinical trials, over 90% of treated patients maintained or improved their visual acuity over a one-year follow-up period.

    The STAR trial is expected to enroll approximately 140 patients across 18 clinical sites in the United States, Europe, Canada and South America, of which six sites will be surgical centers. Eligible patients will be randomized into one of three study arms: 56 patients receiving a high-dose of NSR-REP1 in one-eye (1.0 × 10^11 genome particles, or gp); 28 patients receiving a low-dose of NSR-REP1 in one-eye (1.0 × 10^10 gp); and 56 patients receiving no treatment (no-sham, parallel control arm). Patients in the STAR trial are expected to be recruited primarily from the existing Nightstar-sponsored natural history observational study (NIGHT study) in order to accelerate Phase 3 enrollment from this well-characterized patient population. The primary endpoint of the STAR trial is the proportion of patients with an improvement of at least 15 ETDRS letters from baseline in visual acuity at 12 months post-treatment. The primary endpoint will compare patients in the high-dose treatment arm with patients in the control arm.

    “The initiation of this first-ever Phase 3 trial for the treatment of choroideremia is a major milestone for Nightstar and a tremendous step forward for patients otherwise at risk of blindness due to this devastating disease,” said Dave Fellows, chief executive officer of Nightstar. “We are very encouraged by the responses we have seen to-date following treatment with NSR-REP1. This accomplishment demonstrates our team’s ability to successfully advance important gene therapies. We are thankful to our academic and advocacy partners, as well as the many patients who have participated in our studies, all of whom have been instrumental in helping us to achieve this milestone.”

    “The Choroideremia Research Foundation is encouraged by the advancement of this gene therapy and congratulates the Nightstar team for their unrelenting commitment to serving patients,” said Randy Wheelock, chief advisor for research and therapy development for the Choroideremia Research Foundation.

    Dr. Christopher Moen, president of the CRF commented, “Not only is this important for choroideremia patients and their families, but it is another important step toward developing therapies for the many people affected by blinding inherited retinal diseases, of which over 200 have been identified. The CRF is proud of its contributions in helping Nightstar achieve this milestone, including grants for initial research and preclinical studies. We look forward to realizing the full potential NSR-REP1 could have for patients with this challenging condition.”

  • Nightstar Therapeutics raises $75 Million in IPO to fund Pivotal Phase 3 Gene Therapy Study October 1, 2017

    Nightstar Therapeutics held it’s Initial Public Offering on Thursday September 28th, raising $75 Million which will be used to advance the company’s gene therapy treatment for Choroideremia along with other Retinal Degenerative Diseases the company is working on.  The company, which was spun out of Oxford University has completed Phase 1/2 Clinical Trials and is preparing to undertake Pivotal Phase 3 trials for their gene therapy treatment targeting Choroideremia.  The Nightstar treatment involves the use of an adeno-associated viral (AAV) vector to deliver a corrected version of the Gene that causes Choroideremia.  Because gene therapy treatment is aims to replace the defective gene with a corrected version of the gene, the treatment is designed as a one time injection.

    Choroideria Research Foundation President Dr. Christopher Moen and wife Alis Moen were invited to attend the NASDAQ Closing Bell Ceremony by Nightstar CEO David Fellows.  Dr. Moen and the Choroideremia Research Foundation were recognized on stage during the Closing Bell ceremony.  The Choroideremia Research Foundation provided grants in support of the early work performed by Dr. Miguel Seabra which laid the foundation for the development of the Nightstar Therapeutics gene therapy treatment, and has provided support for lead surgeon and Nightstar Co-Founder Dr. Robert MacLaren.

    For more information on Nightstar Therapeutics and their gene therapy development you can visit their website by clicking here.  Nightstar Therapeutics is now being traded on the NASDAQ under the symbol NITE.

  • Spark Announces Phase 3 Data for LCA Trial October 5, 2015

    20150101_inq_spark01-cAn announcement today by Spark Therapeutics brings the world one step closer toward a commercially available gene therapy treatment.  This morning Spark released positive results from the Phase 3 pivotal trial of its lead gene therapy product candidate, SPK-RPE65, for the treatment of RPE65-mediated inherited retinal dystrophies, more commonly known as LCA.

    “We saw substantial restoration of vision in patients who were progressing toward complete blindness,” said Albert M. Maguire, MD, principal investigator in the trial and professor of ophthalmology at the Perelman School of Medicine of the University of Pennsylvania. “The majority of the subjects given SPKRPE65 derived the maximum possible benefit that we could measure on the primary visual function test, and this impressive effect was confirmed by a parallel improvement in retinal sensitivity. If approved, SPK-RPE65 should have a positive, meaningful impact on the lives of patients with this debilitating condition.”

    The phase 3 study evaluated 31 patients, 21 of whom were treated and 10 who represented controls.  Patients treated with SPK-RPE65 were able to navigate through a mobility course more effectively at varying levels of light after treatment was provided.  They also were found to have improved full-field light sensitivity threshold testing, which is a measure of physiologic function of the retina.  In addition, there were no serious adverse events or concerning immune responses observed in the clinical trial.  These results show evidence of success of the gene therapy treatment and

    “These results are the culmination of more than a decade of work of many dedicated individuals to correct the underlying cause of RPE65-mediated blindness through the one-time administration of a gene therapy,” said Jean Bennett, MD, PhD, professor of ophthalmology and director of the Center for Advanced Retinal and Ocular Therapeutics at the Perelman School of Medicine of the University of Pennsylvania. “We are excited about the potential impact that the results will have on the treatment of this and other blinding conditions.”

    Currently, there are no commercially available gene therapy treatments in the United States and only one in the Western world.  These positive results bring Spark one step closer to approval for SPK-RPE65, which would also be the first gene therapy treatment for a retinal degenerative disease.  Successful progress and approval of SPK-RPE65 bodes well for Choroideremia, currently in Phase 1/2 clinical trials by Spark.  With the success and experience from the RPE65 program now established, the Choroideremia community hopes that their disease will follow a similar, if not simpler, path through the clinical trial and regulatory process.

    For more information on Spark Therapeutics, you can navigate to their website at  In addition, patients can contact Spark directly at 800-SPARKTX or for more information.


  • Clinical Trials Announced in Miami September 19, 2015


    The Bascom Palmer Eye Institute at the University of Miami has announced the opening of a clinical trial using gene therapy on Choroideremia patients.  The clinical trial, titled An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1), was officially posted on the website on September 17th.  Led by Dr. Byron Lam, the phase II clinical trial will treat 6 male patients with a sub-retinal injection of the AAV2-REP1 gene therapy vector in one eye, using the second eye for comparison.  Patients will be followed for a total of 11 visits over 24 months with an additional 3 year follow-up period.  All patients are required to be 18 years or older, have a genetic diagnosis of Choroideremia, and have visible disease in their retina on examination.  The clinical trial team will be evaluating both the safety of the treatment as well as its effectiveness in treating the diseased eye.

    “The Choroideremia Research Foundation is excited to report the announcement of clinical trials for Choroideremia at the Bascom Palmer Eye Institute,” says Christopher Moen, CRF President.  “Bascom Palmer is an internationally recognized leader in ophthalmology care, and we are excited that they and Dr. Lam have chosen to study Choroideremia.  This clinical trial will expand access to gene therapy to individuals with Choroideremia in the United States, and will continue progress toward an approved treatment.  We believe in the potential for a successful gene therapy treatment for Choroideremia, and this study will bring us even closer to that goal.”

    The Bascom Palmer study marks the fourth clinical trial using gene therapy to treat Choroideremia around the globe.  Clinical trials are currently underway at the University of Oxford by Dr. Robert Maclaren, the University of Alberta by Dr. Ian Macdonald, and at Children’s Hospital of Philadelphia and the University of Pennsylvania by Spark Therapeutics. In 2014, Dr. Maclaren reported the preliminary results of the University of Oxford clinical trial in the medical journal The Lancet.  In the six months after treatment with this therapy, the first six patients showed improvement in their vision in dim light and the two patients who had impaired visual acuity at the start of the trial were able to read more lines on the eye chart.

    Enrollment for this study is underway currently.  Individuals who are interested in learning more about the clinical trial, or who are considering enrolling as a patient, can go to the study page on the website for more details and contact information.

  • Gene Therapy Clinical Trials Begin in Canada May 28, 2015

    Dr. Ian MacDonaldThe University of Alberta, in coordination with NightstaRx, have initiated a clinical trial for patients with Choroideremia using NightstaRx’s gene therapy product AAV2-REP1. The phase 1 trial is an open-label study designed to test the safety and preliminary efficacy of sub-retinal injection of AAV2-REP1. The trial will be performed at the University of Alberta under the supervision of Dr. Ian MacDdonald and will enroll 6 patients with identified CHM mutations. “For many of us, CHMers and researchers, this is an exciting time, one that has been anticipated for many years”, says MacDonald.
    “The Choroideremia Research Foundation is thrilled at the initiation of clinical trials at the University of Alberta,” says Chris Moen, President of the CRF. “Dr. MacDonald has supported the CRF and Choroideremia patients for years, and we are excited to see his team, in conjunction with NightstaRx, bring gene therapy trials to Canada.This is a tremendous opportunity to make gene therapy accessible to patients in Canada who are losing their sight.”
    Pre-clinical development of the AAV2-REP1 vector was performed by Profs. Miguel Seabra and Robert Maclaren with financial support from the Choroideremia Research Foundation. The vector is currently being studied by Prof. Maclaren in a Phase 1/2 clinical trial at the University of Oxford, UK. Results published in The Lancet Medical Journal in January 2014 reported that six months after treatment with this therapy, the first six patients showed improvement in their vision in dim light and the two patients who had impaired visual acuity at the start of the trial were able to read more lines on the eye chart. The Phase 1/2 study is currently ongoing and, according to the NightstaRx website, the company will soon announce its plans for future studies.
    For more information on NighstaRx and its ongoing gene therapy work, please visit
    To learn more about the University of Alberta clinical trial, you can visit the Choroideremia Gene Therapy at the University of Alberta website at or to the study page on the website.

  • Nightstar Receives U.S. and European Orphan Drug Designation for Gene Therapy to Treat Choroideremia March 24, 2015


    London, 11 January 2015 – NightstaRx Ltd (“Nightstar”), the biopharmaceutical company specialising in bringing therapies for retinal dystrophies to patients, has received both U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA) Orphan Drug Designation for its lead programme, a gene therapy to treat Choroideremia, an X-linked recessive disorder that leads to progressive blindness.

    Orphan Drug Designation, which is intended to facilitate drug development for rare diseases, provides substantial benefits to the sponsor, including regulatory support in development activities such as protocol assistance, reduced fees, tax incentives and several years of market exclusivity for the product upon regulatory approval.

    Click Here to read the full press release

  • SPARK Therapeutics pulls off a $161M IPO January 30, 2015

    jeffrey-d-marrazzoSpark Therapeutics, the Philadelphia firm specializing in gene therapy treatments who just last week announced the start of the United States first clinical trial to treat Choroideremia using it’s gene therapy product SPK-CHM, has gone public today on the NASDAQ bringing in $161 million during it’s Initial Public Offering.  Chief Executive Officer Jeffrey D. Marrazzo and the team at Spark have worked closely with University of Pennsylvania and Dr. Jean Bennett to help bring the SPK-CHM Gene Therapy into phase 1 clinical trials.

    Read the Philadelphia Business Journal Blog about this IPO by clicking here

    Read more about this IPO on Fierce Biotech by clicking here.

  • First U.S. Gene Therapy Clinical Trial to treat Choroideremia initiated in Philadelphia January 20, 2015

    Dr. Jean BennettSpark Therapeutics, a late-stage gene therapy company developing treatments for debilitating, genetic diseases, announced today it has initiated a Phase 1/2 clinical trial for the potential treatment of patients with choroideremia (CHM) utilizing its gene therapy product SPK-CHM.  The Phase 1/2 trial is an open-label, dose-escalating trial designed to assess the safety and preliminary efficacy of sub-retinal administration of SPK-CHM. The Phase 1/2 trial will be conducted at The Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania, and has plans to enroll up to 10 patients afflicted with the CHM genetic mutation.


    “Spark’s groundbreaking announcement today brings real hope of a cure for blindness caused by choroideremia, and promises to pave the way for treatments of other retinal diseases impacting millions of people around the World,” said Dr. Chris Moen, President of the Choroideremia Research Foundation, the leading advocacy and fundraising organization focused on finding a cure for CHM.  “The Choroideremia Research Foundation is proud to have provided preclinical funding to Jean Bennett, MD, PhD, and her team at the Perelman School of Medicine at the University of Pennsylvania, that has helped bring us to the gene therapy human clinical trials being announced today.”


    Dr. Jean Bennett’s preclinical work, which was funded in part by consistent financial support from the Choroideremia Research Foundation (, demonstrated the ability of the SPK-CHM gene therapy to restore REP-1 protein production, membrane trafficking and retinal structure.


    “Throughout my career’s work developing genetic therapies for inherited retinal dystrophies I have had my target set on a number of different conditions, in particular, choroideremia,” said Dr. Bennett, who is also one of Spark’s scientific co-founders and a scientific advisor on the SPK-RPE65 clinical trials being conducted at CHOP. “The SPK-CHM program, for the first time, creates the potential for patients to use their vision for longer and see more things.”


    In addition to evaluating safety, the trial will help define the dose required to achieve stable or improved visual function and identify appropriate endpoints for subsequent clinical trials. With SPK-CHM, Spark is leveraging the experience and technology utilized in the development of its gene therapy for Leber’s congenital amaurosis (LCA), SPK-RPE65, including the same vector, target cells and route of administration, as well as the same manufacturing process.  SPK-RPE65 is currently in a fully-enrolled pivotal Phase 3 clinical trial.


    CHM is an X-linked inherited retinal dystrophy which manifests in affected males in childhood as night blindness and a reduction of visual field, followed by progressive constriction of visual fields, ultimately leading to complete blindness.  CHM affects an estimated 1 in 50,000 males in the United States and there is currently no approved treatment for the disease.


    For more information on Choroideremia and the Choroideremia Research Foundation (CRF), visit


    For more information on Spark and its pipeline of gene therapy candidates please visit

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