BCM Families Foundation Collaborations
BCM Families Foundation has numerous collaborations with universities involved in BCM gene therapy research and with biotechnology companies that are working on retinal eye disease. We selected and financed only those projects that could direct research not only toward the knowledge of the disease in itself but mainly towards the treatment or the cure of BCM. Projects are chosen as a part of an integrated and strategically designed plan.
Our main goal at the moment is to collect all the pre-clinical data required for submission to FDA (Food and Drug Administration) and EMA (European Medicines Agency) of an IND (Investigational New Drug) proposal for BCM gene therapy.
Finally, our organization has strategic contacts with biotechnology pharmaceutical companies and is approaching the translation process of the scientific results achieved up to now into a commercial drug.
- University of Pennsylvania – Dr. Samuel G. Jacobson, Dr. Arthur V. Cideciyan.
- University of Florida – Dr. William W. Hauswirth, Dr. Jijing Pang.
- University of Tuebingen, Germany – Dr. Bernd Wissinger, Dr. Susanne Kohl, Elena Buena-Atienza.
- AGTC, Applied Genetic Technology Corporation, www.agtc.com
BCM Families Foundation Financed Projects toward gene therapy:
2010-2014 Private funds: $1,250,000 to start gene therapy projects at University of Pennsylvania and University of Florida.
2014-2017 BCM Families Foundation grants: $700,000 to University of Pennsylvania and University of Florida.
2010-2016 Private funds + BCM Families Foundation grants: $220,000 to University of Tuebingen, Germany.
Main goal is to submit an Investigational New Drug application to FDA and EMA for a Phase I/Phase II gene therapy Human Clinical Trial.
Dr. Samuel G. Jacobson, Dr. Arthur V. Cideciyan
Since 2010 a collaboration started with University of Pennsylvania. The aim of this collaboration is to understand if gene therapy can be a treatment for Blue Cone Monochromacy. Positive results, never obtained before, show the presence of sufficient cone cells in the BCM patients to warrant gene therapy. These cells can be treated with gene therapy. Inclusion/exclusion criteria, and outcome measures are currently under investigations. The following publications were obtained through BCM Families Foundation’s support:
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. (2013) Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther 24: 993-1006.
Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. (2015) Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. PLoS One. 10(4):e0125700.
Cideciyan AV, Roman AJ, Jacobson SG, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S. (2016) Developing an outcome measure with high luminance for optogenetics treatment of severe retinal degenerations and for gene therapy of cone diseases. Invest. Ophthalmol. Vis. Sci. 57(7):3211-21.
University of Florida – USA
Dr. William W. Hauswirth, Dr. Jijing Pang
Since 2010 a collaboration started with University of Florida. Initially (2010-2014) thanks to private funds and then as a part of a Sponsored Research Agreement with BCM Families Foundation, Dr. William Hauswirth developed, for the first time, an animal model of BCM and treated it with an AAV-based gene therapy. Superb positive results show the possibility to consider gene therapy as a treatment of BCM. Scientists are currently involved in testing different kind of vectors.
Zhang, Y; Deng, WT; Du, W; Zhu, P; Li, J; Xu, F; Sun, J; Gerstner, C D; Baehr, W; Boye Sanford, L; Zhao, C; Hauswirth, W W; Pang, J (2017). Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. Scientific Reports. 2017 7 (6690).
University of Tuebingen – Germany
Dr. Bernd Wissinger, Dr. Susanne Kohl
Since 2010 a collaboration started with the aim to identify all possible BCM causative mutations. Patients without a genetic confirmation of their disease have been invited to test their DNA. Main objectives of the project are:
- Development of sensitive and reliable methods for the detection of mutations and structural aberrations in the opsin gene cluster;
- Development and maintenance of Standardized Operation Procedures for the genetic testing for BCM;
- Reference center for the genetic testing of clinically diagnosed BCM patients;
- Provision of reference material for quality control in genetic testing for BCM;
- Determination of mutation origin and new mutation rates in the opsin gene cluster.
Wissinger Lab website The following publication was obtained through our support:
Elena Buena-Atienza et al. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy www.nature.com SCIENTIFIC REPORTS 6:28253 DOI: 10.1038/srep28253.
Applied Genetic Technology Corporation – AGTC
Applied Genetic Technologies Corporation (Nasdaq:AGTC), a biotechnology company conducting human clinical trials of adeno-associated virus (AAV)-based gene therapies for the treatment of rare eye diseases, and the BCM Families Foundation started in 2016 a collaboration to develop an AAV-based gene therapy for BCM. AGTC has deep expertise in the optimization and manufacturing of novel AAV-based therapies for the treatment of inherited retinal diseases. As part of the collaboration, the BCM Families Foundation will share with AGTC scientific and clinical study data that have been generated through its research efforts, and will also provide patient advocacy and clinical trial support to AGTC. AGTC will be responsible for product development efforts and aspects of the clinical program design and execution. AGTC’s lead product candidates focus on inherited orphan diseases of the eye, caused by mutations in single genes that significantly affect visual function and currently lack effective medical treatments. AGTC’s product pipeline includes six named ophthalmology development programs across five targets [x-linked retinoschisis (XLRS), x-linked retinitis pigmentosa (XLRP), achromatopsia, wet age-related macular degeneration and now blue cone monochromacy], one non-ophthalmology program (alpha-1 antitrypsin deficiency) and proof-of-concept data in multiple additional indications.
Greenwood Genetic Center (GGC) is recognized nationally and internationally as a leader in clinical genetics, genetic education, diagnostic testing and genetic research. BCM Families Foundation is collaborating with Charles E. Schwartz, Ph.D., Director of Research at GGC, so potential BCM patients will be referred to Wissinger Laboratory (University of Tuebingen, Germany) for free genetic testing that yields an accurate diagnosis. A strength of BCM Families Foundation’s collaboration is GGC’s networking with other geneticists to raise awareness of BCM as an under-identified condition, as well as to more accurately determine the prevalence of BCM.
BCM Families Foundation – Participations in professional charity oversight organizations
TRAIN – TRAIN.Fastercures.org is the Research Acceleration and Innovation Network of FasterCures.org. The main concept is Venture Philanthropy that is a way to accelerate the process toward the translation of scientific research into commercial drugs. Patients associations are going to treat funding as an investment rather than as the traditional concept of a charitable grant, with corresponding expectations of return on investment, operating efficiencies, and management oversight. Return on investment may be financial (in the case of an investment in a for-profit company), to be reinvested in the foundation’s research agenda, but it is also, importantly, a social return on investment—the advancement of a promising therapy down the pipeline toward patients.
GUIDESTAR – BCM Families Foundation is a Silver Medallion member of GuideStar, which connects donors’grantmakers to non-profit organizations, plus provides potential funders better data for better decisions. GuideStar helps donors evaluate each member nonprofit by providing the nonprofit’s Form 990, by using its overhead ratio & by showing its improvement results year over year.
ORPHANET – BCM Families Foundation is a member of Orpha.net where we are listed in their directory of patient organizations for orphan/rare diseases.
EURORDIS & NORD – BCM Families Foundation is moving toward being an affiliate organization of NORD, the National Organization for Rare Disorders, rarediseases.org , the U.S. Branch of EURORDIS, the European Organization for Rare Diseases, eurordis.org. Since 2014, BCM Families Foundation has participated in Rare Disease Day, developed by EURORDIS in 2008.
Friends Non-Profit Organizations
- Associazione Acromati Italiani onlus (AAI) – acromatopsia.it AAI and BCM Families Foundation are supporting together the Italian Network for the prevalence study of Blue Cone Monochromacy and Acromatopsia and the introduction of a driving licence with bioptic telescope in Italy.
- National Multiple Sclerosis Society – nationalmssociety.org
- Macula Vision Research Foundation – MVRF.org
- Achroma corp achromacorp.org
- Vision of Children Foundation – visionofchildren.org
Patient Registry project is supported by funds of Otto per Mille della Chiesa Valdese