Latest Research

  • 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.

  • 4DMT Now Recruiting for Natural History Studies! February 10, 2017

    4D Molecular Therapeutics Enrolling Patients in Natural History Study in Lead Clinical Program to Develop Gene Therapy Treatment for Choroideremia

    Intravitreal delivery to the retina is critical to Choroideremia treatment

    4D Molecular Therapeutics (4DMT), a leader in gene therapy product discovery and development, is accepting patients for enrollment in its Choroideremia Natural History Study (NHS). This study is an important step in developing a groundbreaking gene therapy product optimized for intravitreal administration to treat Choroideremia (CHM) patients. 4DMT has deployed its proprietary AAV vector discovery platform, Therapeutic Vector Evolution, to create and optimize a proprietary AAV vector for intravitreal delivery to the retina. This vector is designated to be the basis for the first 4DMT experimental gene therapeutic targeted for the treatment of CHM. 4DMT is working in close collaboration with the Choroideremia Research Foundation on CHM product development and the Natural History Study.

    Choroideremia Natural History Study (NHS) Purpose
    The NHS is a multi-center US-based study designed to evaluate disease progression in a wide variety of individuals with CHM. Understanding more about clinical endpoints as the disease progresses will aid in identifying both potential participants and the best clinical measures for upcoming 4DMT clinical trials. Participants in the study will be assessed every six months over two years. At each visit, they will undergo a series of photographic, imaging and clinical evaluations.

    The study is accepting males with a confirmed CHM diagnosis aged 14 and up. There is no exclusion for good visual acuity. Additional information about the NHS study criteria, locations, and contact information may be found at

    Two clinical sites are actively recruiting for the study:

    Retina Foundation of the Southwest
    9600 N Central Expressway, Suite 200
    Dallas, TX 75231
    Contact: Kirsten Locke
    Tel: 214-363-3911 ext. 114
    Principal Investigator: David Birch, PhD

    Retina-Vitreous Associates Medical Group
    1127 Wilshire Boulevard, #1620
    Los Angeles, CA 90017
    Contact: Janet Kurokouchi
    Tel: 310-289-2478 – Clinical Trial Department
    Principal Investigator: David Liao, MD

    A third site for the NHS, the Moran Eye Center at the University of Utah, is not currently enrolling patients but expects to do so in the near future. They are currently compiling a list of interested CHM patients. If you are interested in enrolling at this study site contact:

    John A. Moran Eye Center – University of Utah
    65 Mario Capecchi Drive
    Salt Lake City, UT 84132
    Contact: Katie Rogers
    Tel: 801-581-2352 – Ask for Clinical Study Staff Office
    Principal Investigator: Paul Bernstein, MD

    “The Choroideremia Research Foundation and its community are thrilled at the initiation of 4DMT’s Natural History Study. This milestone brings us one step closer to a treatment that could end blindness from CHM,” said Christopher Moen, MD, President of the Choroideremia Research Foundation.

    “This clinical study is a significant milestone for the company and a critical step forward for our lead program to treat choroideremia. We are convinced the data generated in this study will accelerate the clinical development of our lead product,” said Dr. David Kirn, co-founder and CEO, 4D Molecular Therapeutics.

  • 4DMT Announces Plans for CHM Natural History Study August 11, 2016
    4DMT is accepting inquires from interested choroideremia (CHM) patients for their upcoming Natural History Study.  In partnership with the Choroideremia Research Foundation, 4DMT seeks to develop a gene therapy product optimized for intravitreal administration to treat Choroideremia.
    Natural History Studies track disease progression and are an essential first step in developing efficient clinical stages of testing in rare diseases. The purpose of this study is to evaluate disease progression as well as determine the feasibility of measuring endpoints for subsequent clinical trials in the hopes of providing medical benefit through gene therapy to all choroideremia patients and their families.
    Enrollment for 50 patients begins in fall 2016 at 5 study sites throughout the United States. We will be updating you as the study opens and patients are being accepted.
    Eligibility requirements include but are not limited to:  participants must be 14 years or older and have a CLIA Certified Genetic Diagnosis with visual acuity ≥ 20/200 or better.
    Study participation requirements:
    Attend Study Site Visits
    •          One visit every 6 months, for 24 months
    Assessments Include
    •          Medical history review
    •          Visual and eye exam
    •          Photography and imaging
    Email questions to
  • Gene Therapy Trial Results Released! April 27, 2016

    Robert E MacLaren In a letter published by the New England Journal of Medicine today, Dr. Robert Maclaren released positive long-term results from the initial 6 Choroideremia patients treated in the clinical trial at the University of Oxford. These results, which show sustained effects of gene therapy, represent another critical step toward the approval of gene therapy for Choroideremia.

    The six-month results of this clinical trial were reported in the Lancet in 2014, and demonstrated improvement of vision in 2 patients with no change in vision of the remaining 4 patients. The results published today provided the continued evaluation of these 6 patients up to 3-4 years after treatment. The 2 patients whose visual acuity improved at six months demonstrated sustained effects of the treatment at approximately 3.5 years despite the continued loss of vision in the untreated eye during this period. 3 additional patients have maintained their visual acuity in the treated eye at 3-4 years despite declines in vision of the untreated eye. Patient 6, who received the lowest dose of gene therapy due to surgical issues, had continued decline of visual acuity in both eyes. In summary, 5 of 6 patients who received gene therapy have improved vision in their treated eye compared to the untreated eye after several years of observation.

    “The CRF is thrilled to receive the results of Dr. Maclaren’s long-term observation of patients in his Choroideremia clinical trial,” reports Christopher Moen, CRF President. “These results show that gene therapy for Choroideremia is successful and has the potential to end blindness from this disease. These results bring us one step closer to the first approved treatment for Choroideremia, a treatment we have waited our whole lives for. We thank Dr. Maclaren and his team for their ground-breaking work on behalf of the Choroideremia community.”

    Regarding these results, Dr. Maclaren states, “This shows that the visual acuity gains that were reported in the Lancet were real and also long-lasting. I think that is the key take-home message. The improved clarity is presumably due to the remaining cells in the central retina being healthier.” Dr. Maclaren will be presenting these results at the Association for Research in Vision and Ophthalmology Annual Meeting in Seattle, WA next week.

    The gene therapy vector was developed by a team of researchers, led by Dr. Maclaren and Dr. Miguel Seabra, and is now the property of NighstaRx Ltd. The approach uses a virus known as adeno-associated virus (AAV) to deliver a normal copy of the gene causing Choroideremia into cells of the eye. The CRF provided significant financial support for the pre-clinical research and development of this gene therapy vector. Dr. Maclaren has completed his phase I/II trial involving a total of 12 patients and has announced the intention to proceed with a phase II study enrolling 30 patients later this year.
    H Eric Hartman, CRF Executive Director, also noted his thanks to the CRF membership for their generous long-term support. “It is only through the dedication and generosity of our members and friends that enables the CRF to provide the crucial financial backing of for the amazing advancements in CHM research.”

    Click here for more information about this treatment and NightstaRx.

  • CRF Announces Partnership With 4DMT February 23, 2016







    4D Molecular Therapeutics and the Choroideremia Research Foundation Partner to Develop Gene Therapy Treatment for Choroideremia


    Emeryville, CA, February 23, 2016 — 4D Molecular Therapeutics (4DMT), a leader in Adeno-Associated Virus (AAV) gene therapy vector discovery and product development, and the Choroideremia Research Foundation (CRF), a non-profit dedicated to finding a cure for choroideremia, today announced a  partnership to develop a gene therapy product optimized for intravitreal administration to treat Choroideremia.


    Under the terms of the agreement, CRF will provide 4DMT funding to deploy its proprietary AAV vector discovery platform, Therapeutic Vector Evolution, to create and optimize a proprietary AAV vector for intravitreal delivery to the retina. This vector will be the basis of a 4DMT experimental gene therapeutic that will be evaluated and developed by 4DMT in close collaboration with the CRF.


    “We believe that 4D’s Therapeutic Vector Evolution approach to AAV vector design, which creates a vector with the ability to successfully penetrate the retina via intravitreal delivery, rather than subretinal injection, can potentially change the future of Choroideremia gene therapy,” said Christopher Moen, MD, President of the CRF.  “The outcomes of this collaboration may offer tremendous benefit to our patient community, and our unique partnership can serve as a model for other rare disease groups.”


    “CRF brings their crucial clinical expertise, network of doctors, trial investigators and patients together to inform the best possible product design, clinical trial design, and trial execution for this important program,” said David Kirn, MD, co-founder and CEO of 4DMT. “Teaming up with CRF allows us to pursue our vision of providing the best gene therapy products to patients who truly need them.”


    Further terms of the agreement were not disclosed.


    About Choroideremia

    A rare, inherited form of blindness, Choroideremia is an x-linked retinal disease that begins as night blindness in childhood and progresses to complete blindness. It affects an estimated 1 in 50,000 people in the United States, predominantly males, and has no effective treatment.


    About the Choroideremia Research Foundation

    The 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.


    About 4D Molecular Therapeutics

    4DMT is focused on the discovery and development of targeted and proprietary AAV gene therapy vectors and therapeutic products. Our robust discovery platform, termed Therapeutic Vector Evolution, empowers us to create customized gene delivery vehicles to deliver genes to any tissue or organ in the body, by optimal clinical routes of administration and with evasion of pre-existing antibodies. These proprietary and targeted products allow us to treat both rare genetic diseases and complex large market diseases. 4D is creating a diverse and deep product pipeline through partnerships, while progressing internal 4D products toward clinical trials in parallel. 4D partners include: Pfizer (PFE), Roche (SIX: ROG; OTCQX: RHHBY), uniQure (QURE), AGTC and Benitec.


    About 4DMT’s Therapeutic Vector Evolution

    Current clinical stage gene therapy products are based on AAV (Adeno-Associated Virus) vectors that are generally “wild-type” or primitive vectors, meaning they were found in nature as laboratory contaminants or as monkey infections. These first-generation AAV vectors, while generally safe and well-tolerated in patients, do not have optimized delivery properties and often require aggressive and/or invasive dosing to attempt the desired transduction of target cells. 4DMT is advancing the field of AAV vector technology by deploying principles of evolution and selection to create vectors that efficiently and selectively target the desired cells within the diseased human organ via clinically optimal routes of administration. Our Therapeutic Vector Evolution platform deploys approximately 100 million unique AAV variants from proprietary 4DMT AAV libraries with unmatched diversity. 4DMT then applies proprietary methods to identify lead vectors that are highly optimized for a specific target cell and organ, route of therapeutic administration, and capacity to evade pre-existing antibodies in patients. The result is a customized, novel, and proprietary pharmaceutical-grade vector uniquely designed for therapeutic gene delivery in humans.




    Peter Rahmer, 646-378-2973



    Sharon Tetlow, 415-515-3902

  • Gene Therapy Trials Begin in Germany January 21, 2016

    At Tübingen Department of Ophthalmology in Germany, the first gene therapy trial for Choroideremia patients began on January 13th. This milestone was preceded by many years of preparatory work in Tübingen – sponsored by the nonprofit Tistou and Charlotte Kerstan Foundation. In this case, the team was able to move forward based on results from Oxford, where Professor Robert MacLaren developed this new treatment and tested for the first time on patients in the United Kingdom. At this time, more than 20 patients have been treated at several centers in the context of clinical studies around the world. In addition to the original center at Oxford Eye Hospital, trials are currently underway in Edmonton (Canada), Miami (USA). Tübingen is the latest center to begin trials for Choroideremia patients.

    The aim of gene therapy is a therapeutic gene sequence to replace a mutated gene, which is responsible for a disease like Choroideremia. By introducing the therapeutic gene, the disease process can be stopped. This works not only in the laboratory – even in children (in the case of another severe retinal disease, Leber’s Congenital Amaurosis) it works so well that an approval for general treatment is likely.

    In the case of Choroideremia, it also seems to work well. Initial results have confirmed the safety of the treatment and shown a positive effect For example, in the microperimetry (a kind of visual field examination), the higher the relative dose, the greater was the increase in sensitivity of the treated retina (MacLaren et al, Lancet, January 2014). However, the goal of treatment can also be seen in the natural disease progression – the steady deterioration of visual function stops, with no further progression towards blindness. Many adult patients with Choroideremia know their sight is getting worse and there is currently no other treatment option, the interest in these studies is very high.

    We thank the Tübingen University Eye Clinic team (Director: Prof. Bartz-Schmidt) and the Research Institute of Ophthalmology team (Director: Prof. Ueffing) who together are enabling Choroideremia patients access to these trials in Germany.

  • 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.