Child’s Rare Genetic Disorder Prompts Parents to Launch Support Group
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When a 15-day-old baby, who had a bout of mild diarrhea and vomiting became severely dehydrated, the parents, though worried, did not sense something could be seriously wrong. However, they were shocked when their doctor diagnosed the baby with Congenital Adrenal Hyperplasia (CAH).

CAH is an inherited disorder that affects the adrenal glands where the glands cannot produce cortisol and aldosterone, and instead produce an unwanted excess amount of androgens.

A child with CAH lacks enzymes the adrenal glands use to produce hormones that help regulate metabolism, the immune system, blood pressure, and other essential functions. Parents with children suffering from it often have great difficulty in the upbringing of the child, including treatment, getting school admission and other support issues.

For the first time, Shyam Nair and Deepa Kannan, parents of a CAH child, have started a support group called ‘CAH Support India’ ( www.cahindia.org ) involving a community of parents, grandparents and caregivers of CAH children. The International Coalition for Endocrine Patient Support Organisations worldwide has listed this support group as the first such group for endocrine disorders in India.

The couple has also created a closed Facebook group for parents and endocrinologists, and a Facebook page called Omkar’s journey with Congenital Adrenal Hyperplasia to chronicle all possible events in the life of a child with CAH.

Shaila S. Bhattacharyya, pediatric endocrinologist at Manipal Hospitals, who is also part of the support group, said: “A CAH child gets severely dehydrated even with a mild episode of diarrhea and needs hospitalization, which is stressful both for the child and the caregivers

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New Award Seeks to Accelerate the Development of Novel Therapies for Rare Diseases
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Harrington Discovery Institute announces the call for proposals for the 2018 Harrington Rare Disease Scholar Award.

The Harrington Rare Disease Scholar Award was created to advance breakthrough research into cures for rare diseases. The program is sponsored by Takeda Pharmaceutical Company and overseen by Harrington Discovery Institute.

Who should apply?

U.S.-based MD and PhD researchers whose discoveries show promise for translation into novel treatments for rare diseases

Multi-level support for award recipients includes:

  • $150,000 guaranteed; potential award of up to $1 million
  • Drug development and project management support through Harrington Discovery Institute’s Innovation Support Center
  • Facilitated access to Takeda’s research and development experts
  • Dedicated pharma team for each scholar
  • Clinical development strategy
  • Regulatory guidance

Letters of Intent are now being accepted through midnight on July 19, 2017.

To learn more about the program and to apply, visit www.HarringtonDiscovery.org/Takeda

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FDA grants Fast Track designation to Edimer’s EDI200 for treatment of XLHED
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Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder, X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), announced the receipt of Fast Track designation from the U.S. Food and Drug Administration (FDA) for EDI200, the company’s novel, proprietary, recombinant protein.

XLHED is a rare orphan disease that causes a range of symptoms including lack of sweat glands, poor temperature control, respiratory problems, and hair and tooth malformations.

The Fast Track program of the FDA is a process designed to facilitate the development and expedite the review of new drugs that are intended to treat serious or life-threatening conditions and that demonstrate the potential to address unmet medical needs. A drug that receives Fast Track designation is eligible for more frequent meetings with FDA to discuss the drug’s development plan and ensure collection of appropriate data needed to support drug approval. In addition, it offers more frequent written correspondence from FDA about such things as the design of the proposed clinical trials. Fast Track designated drugs typically qualify for priority review which can further expedite the FDA review process.

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CytRx Announces Update on the Regulatory Pathway for Aldoxorubicin in Soft Tissue Sarcomas
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CytRx Corporation, a biopharmaceutical research and development company specializing in oncology, announced an update on the regulatory pathway for a New Drug Application (NDA) submission for aldoxorubicin in soft tissue sarcomas (STS).

The Company plans to submit a rolling NDA under section 505(b)(2) to the FDA for aldoxorubicin as a treatment for STS. The 505(b)(2) pathway is designed for a new drug that contains the same active ingredient as a previously approved drug, also known as a reference drug. For aldoxorubicin, doxorubicin is the reference drug. The NDA submission is not reliant solely on the recently completed Phase 3 clinical trial in STS or overall survival results. Rather, CytRx’s completed pharmacokinetic clinical trial, Phase 2b and Phase 3 trials in STS, along with preclinical safety and efficacy studies, will serve as “scientific bridges” between aldoxorubicin and doxorubicin. These studies, along with the published literature of doxorubicin’s effectiveness and safety, will form the basis of the NDA filing for aldoxorubicin under the 505(b)(2) regulations.

“Having worked on aldoxorubicin’s regulatory strategy and as a participant in the March FDA meeting, the 505(b)(2) regulatory pathway is the most appropriate for aldoxorubicin in STS,” said Scott Wieland, PhD, CytRx’s Senior Vice President of Drug Development. “As noted in the FDA meeting, the aldoxorubicin preclinical and clinical studies will support a 505(b)(2) NDA submission, and no new clinical trials were requested by the FDA at the meeting. Additionally, CytRx’s previously approved special protocol assessment is no longer applicable.”

Aldoxorubicin has received Orphan Drug Designation by the FDA for the treatment of STS. Orphan designation provides several benefits including seven years of market exclusivity after approval, certain R&D related tax credits and protocol assistance by the FDA. European regulators granted aldoxorubicin Orphan Medicinal Product Designation for STS which confers ten years of market exclusivity among other benefits. CytRx plans to discuss with the European Medicines Agency (EMA) a path to filing a Marketing Authorization Application (MAA).

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Fibrocell Completes Dosing of First Cohort in Phase 1/2 Clinical Trial of FCX-007 Gene Therapy for Treatment of Recessive Dystrophic Epidermolysis Bullosa
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Fibrocell Science, Inc., a gene therapy company focused on transformational autologous cell-based therapies for skin and connective tissue diseases, announced that the remaining two patients in the NC1+ cohort have been dosed in the Phase 1 portion of the Phase 1/2 clinical trial of FCX-007 for the treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB), a devastating genetic skin disease with a high mortality rate. The cohort consists of three patients. Dosing additional patients follows the Data Safety Monitoring Board’s recommendation to continue the Phase 1/2 clinical trial of FCX-007 following a planned review of safety data from the first patient treated. No product-related adverse events were reported.
Twelve-week post-treatment data for safety, mechanism of action and efficacy for multiple patients in the Phase 1 portion of the trial are expected in the third quarter of 2017.
Fibrocell is developing FCX-007 in collaboration with Intrexon Corporation (NYSE:XON), a leader in synthetic biology.

About FCX-007
FCX-007 is Fibrocell’s clinical-stage, gene therapy product candidate for the treatment of RDEB, a congenital and progressive orphan skin disease caused by the deficiency of the protein type VII collagen (COL7). FCX-007 is a genetically-modified autologous fibroblast that encodes the gene for COL7 and is being developed in collaboration with Intrexon Corporation. By genetically modifying autologous fibroblasts ex vivo to produce COL7, culturing them and then treating wounds locally via injection, FCX-007 offers the potential to address the underlying cause of the disease by providing high levels of COL7 directly to the affected areas while avoiding systemic distribution. FCX-007 has been granted Orphan Drug, Rare Pediatric Disease and Fast Track Designations by the U.S. Food and Drug Administration (FDA).

About the Phase 1/2 Clinical Trial
The primary objective of this open-label clinical trial is to evaluate the safety of FCX-007 in RDEB patients. Additionally, the trial will assess the mechanism of action of FCX-007 through evaluation of COL7 expression and the presence of anchoring fibrils, as well as the efficacy of FCX-007 through evidence of wound healing. Assessments are performed at 4-, 12-, 25- and 52-weeks post-administration of FCX-007. Six adult patients are targeted to be treated with FCX-007 in the Phase 1 portion of the trial and six pediatric patients in the Phase 2 portion of the trial. Prior to conducting clinical trials on pediatric patients, Fibrocell is required to obtain allowance from the FDA by submitting evidence of FCX-007 safety and benefit in adult patients and data from its completed pre-clinical toxicology study. To learn more about the FCX-007 Phase 1/2 clinical trial, please visit www.clinicaltrials.gov and search the identifier NCT02810951.

About Recessive Dystrophic Epidermolysis Bullosa (RDEB)
RDEB is the most severe form of dystrophic epidermolysis bullosa (DEB), a congenital, progressive, devastatingly painful and debilitating genetic disorder that often leads to death. RDEB is caused by a mutation of the COL7A1 gene, the gene which encodes for COL7, a protein that forms anchoring fibrils. Anchoring fibrils hold together the layers of skin, and without them, skin layers separate causing severe blistering, open wounds and scarring in response to friction, including normal daily activities like rubbing or scratching. Children who inherit the condition are often called “butterfly children” because their skin is as fragile as a butterfly’s wings. We estimate there are approximately 1,100 – 2,500 RDEB patients in the U.S. Currently, treatments for RDEB address only the sequelae, including daily bandaging, hydrogel dressings, antibiotics, feeding tubes and surgeries.

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AGTC Announces Topline Safety Data for X-Linked Retinoschisis Phase 1/2 Study
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Applied Genetic Technologies Corporation, a biotechnology company conducting human clinical trials of adeno-associated virus (AAV)-based gene therapies for the treatment of rare diseases, announced topline safety data for the dose escalation phase of the company’s Phase 1/2 X-linked retinoschisis (XLRS) clinical trial, a program partnered with Biogen. Clinical investigator Mark Pennesi, M.D., Ph.D., Associate Professor in Ophthalmic Genetics and Chief of the Ophthalmic Genetics division at Oregon Health and Science University Casey Eye Institute, will present the data at the Macula Society Annual Meeting in Singapore on Saturday, June 10th after 8:15 a.m. local time.

Dr. Pennesi will present results for the first 12 subjects enrolled in the low, middle and high dose groups of the Phase 1/2 dose escalation study. Several subjects have been followed for more than one year. Mild to moderate ocular inflammation was observed in the treated eye for the majority of patients and resolved or was controlled either without further intervention or after treatment with topical or oral corticosteroids. No treatment related serious adverse events were reported and the treatment was generally well tolerated.

“These findings are consistent with previous results demonstrating that our investigational gene therapy for XLRS was generally well tolerated and demonstrated a good safety profile across treatment groups,” said Michael Goldstein, M.D., Chief Medical Officer of AGTC. “Based on these results, and in accordance with a recent review by the Data Safety and Monitoring Committee, we are continuing enrollment at the highest dose in the expansion group and look forward to providing additional updates with respect to safety, potential efficacy and biologic activity endpoints.”

A copy of Dr. Pennesi’s presentation will be available at https://www.agtc.com/products/x-Linked-retinoschisis tomorrow, Friday evening by 8:15 p.m. Eastern Time.

Patients and caregivers interested in participating in or learning about this trial may visit www.agtc.com/patients-and-caregivers or e-mail [email protected]

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Soin Neuroscience Files An Orphan Drug Application To Treat Systemic Sclerosis
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Soin Neuroscience, a biotech startup based in Dayton, OH, has recently filed an Orphan Drug application with the FDA to treat systemic sclerosis/scleroderma with their developmental drug TV1001SR- which uses sodium nitrite as its active ingredient.

Systemic Sclerosis is an autoimmune connective tissue disorder which is characterized by thickening of the skin and damage to small arteries. TV1001SR has been shown in multiple completed phase II and preclinical trials to enhance the growth of small arteries and promote blood flow to damaged tissue. This mechanism of action may prove to be quite helpful for patients suffering from systemic sclerosis.

Systemic sclerosis is an orphan disease states effecting less than 250,000 people in the US, and there are not many effective treatments that help the damage to small arteries. “Our modeling suggests that patients suffering from systemic sclerosis will see a marked improvement in blood flow and help reverse or prevent damage to the small arteries that are damaged by the disease,” noted Dr. Amol Soin, MD, Founder and CEO of Soin Neuroscience.

Patients suffering from this disease often develop damage to their internal organs due to poor blood flow and develop painful ulcers in the distal portion of their fingers and toes due to the damage to small blood vessels. Dr. Soin noted that at times this pain can become debilitating.

“Another major advantage is that TV1001SR has been shown to be a good painkiller in patients who suffer from damage to small arteries. Given the non-addicting and non-sedating nature of the medication, it can truly help people who are suffering without the side effects of other painkillers.”

Dr. Soin went on to say that “The mechanism of action of TV1001SR appears to treat the actual cause of the pain and should also improve the symptoms a patient experiences while at the same time helping to improve the blood flow that was lost due to damage to the small blood vessels. I really think we can help a lot of people.”

Typically the FDA responds to Orphan Drug requests within 4 – 6 months of submission of the application. The Soin Neuroscience team is currently planning for a phase III trial to test TV1001SR for systemic sclerosis which it hopes to begin within the next year.

About Soin Neuroscience:

Soin Neuroscience (SNI) is a pharmaceutical startup company based in Dayton, OH that specializes in treating pain and other neurological conditions. Its lead compound, TV1001SR, is entering late stage trials to treat systemic sclerosis and diabetic peripheral neuropathy. SNI also has multiple other compounds in development including a way to restore functional motor and cognitive function after ischemic stroke, a method to treat intensive care unit myopathy, and is working on an option to treat Huntington’s disease. The company was founded by Dr. Amol Soin who is also an inventor on most of the core technologies that are being developed. He can be reached at [email protected]

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Study Reveals Level of Magnesium Sulfate to Prevent Cerebral Palsy in Preterm Infants
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A new study suggests that to optimize neuroprotection and prevent cerebral palsy in extremely preterm infants, women should receive magnesium sulfate to obtain a blood level between 3.7 and 4.4 mg/dL at the time of delivery. The study included 636 women who received magnesium sulfate and 1269 who received placebo.

The findings are important because magnesium sulfate is indicated for neuroprotection of preterm fetuses; however, the optimal dosing schedule to prevent cerebral palsy is not known.

“Women have traditionally received a standard dose of magnesium sulfate to prevent cerebral palsy in the extremely preterm fetus, but this study is the first to use pharmacokinetic modeling to suggest a therapeutic target maternal serum level we should aim for,” said Dr. Kathleen Brookfield, lead author of The Journal of Clinical Pharmacology study. “The dose of magnesium sulfate can now be tailored depending on maternal factors and the clinical situation to achieve this target.”

About Journal

For more than 50 years, clinical pharmacologists, clinical and pharmaceutical researchers, drug development specialists, physicians, nurses, and other medical professionals have relied on The Journal of Clinical Pharmacology (JCP) for original research, special reviews, commentaries, and case reports on all phases of drug development from absorption, disposition, metabolism, excretion interactions, and preferred uses through post-marketing evaluations.

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Jazz Pharmaceuticals Announces FDA Acceptance of NDA for VYXEOS™ (CPX-351), an Investigational Treatment for Acute Myeloid Leukemia, with Priority Review Status
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Jazz Pharmaceuticals plc announced that the U.S. Food and Drug Administration (FDA) has accepted for filing with Priority Review its recently submitted New Drug Application (NDA) for  VYXEOS™ (cytarabine and daunorubicin) liposome injection, an investigational treatment for acute myeloid leukemia (AML), a rapidly progressing and life-threatening blood cancer.

Priority Review status is designated for drugs that may offer major advances in treatment or provide a treatment where no adequate therapy exists.  The granting of Priority Review for the VYXEOS NDA accelerates the timing of the FDA review of the application compared to a standard review.

“We are pleased by the FDA’s acceptance of the NDA filing with Priority Review as this action emphasizes the need for new treatments for patients living with AML,” said Karen Smith, M.D., Ph.D., executive vice president, research and development and chief medical officer at Jazz Pharmaceuticals.  “We look forward to working with the FDA during this review process to obtain approval of VYXEOS as quickly as possible, as AML is the most common of all adult leukemias and AML patients have among the lowest survival rates.”2

The NDA submission includes clinical data from five studies, including the pivotal Phase 3 study.  Data from the Phase 3 study, which met its primary endpoint, were presented at the American Society of Clinical Oncology Annual Meeting in June 2016.

VYXEOS received Breakthrough Therapy Designation from the FDA in May 2016 for the treatment of adults with therapy-related AML or AML with myelodysplasia-related changes. VYXEOS was also granted Fast Track Designation for the treatment of elderly patients with secondary AML by the FDA, and Orphan Drug Designation by the FDA and the European Commission for the treatment of AML.

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MEI Pharma Announces Pre-Specified Response Rate Exceeded in Dose-Escalation Study of ME-401 in Chronic Lymphocytic Leukemia and Follicular Lymphoma
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MEI Pharma, Inc., an oncology company focused on the clinical development of novel therapies for cancer, announced that an independent Safety Review Committee completed its pre-specified review of the first cohort of six evaluable patients in a Phase Ib, open-label, dose-escalation study of the Company’s investigational drug candidate ME-401, a potent and selective oral PI3K delta inhibitor, in relapsed/refractory chronic lymphocytic leukemia (CLL) and follicular lymphoma.

Based on its review of the safety and efficacy data, the Safety Review Committee declared a minimum biologically effective dose (mBED) for ME-401 at the starting dose of 60 mg and recommended escalation to a 120 mg dose cohort. According to the study protocol, the mBED is defined as a dose that is safe and achieves a response in at least three of six patients. Response assessments are based on criteria of the International Workshop on Chronic Lymphocytic Leukemia for patients with CLL or the Lugano Classification for patients with follicular lymphoma. Response is initially assessed after 8 weeks of therapy.

To date, all six patients have been on study for a minimum of 10 weeks (range, 10-28 weeks). There have been no reports of ALT/AST elevations, colitis or pneumonitis, events commonly reported with other drugs in this class. One patient in the study experienced grade 3 neutropenia that was considered related to study drug. All other adverse events reported were grades 1 or 2. No patients have discontinued due to adverse events. Full data will be submitted for presentation at an upcoming scientific meeting.

“Given the high bar we have placed on the ME-401 program, we are very pleased with the early safety and efficacy data from this study,” said Daniel P. Gold, Ph.D., President and Chief Executive Officer of MEI Pharma. “PI3K delta inhibitors have demonstrated clear activity in the treatment of CLL and follicular lymphoma, but at the expense of well-defined and substantial toxicities. We believe this provides an opportunity for a highly differentiated drug that is both effective and safe. Now we look forward to demonstrating the therapeutic index of ME-401 across multiple dose cohorts and presenting detailed results later this year.”

ME-401 is a highly differentiated oral PI3K delta inhibitor that has a distinct chemical structure from other drugs in its class, including the approved drug idelalisib (marketed as Zydelig®). Results from a Phase I first-in-human study of ME-401 showed levels of drug exposure that support the potential for an improved therapeutic window compared to idelalisib, with a half-life that supports once-daily dosing.

The ongoing Phase Ib study is designed to determine the minimum biologically effective dose, maximally tolerated dose, dose limiting toxicities and recommended Phase 2 dose of ME-401 while evaluating its safety, efficacy and pharmacokinetics. The study, which opened for enrollment in September 2016, is expected to enroll up to 84 patients at approximately 10 sites. Additional information regarding the study, including inclusion and exclusion criteria, is available at www.clinicaltrials.gov (identifier: NCT02914938).

ME-401 (formerly PWT143) is an orally bioavailable, potent and selective inhibitor of phosphatidylinositol 3 kinase (PI3K) delta, a molecular target that has been shown to play a critical role in the proliferation and survival of certain hematologic cancer cells. Results from a first-in-human, single ascending dose clinical study of ME-401 in healthy volunteers were presented at the American Association for Cancer Research Annual Meeting in April 2016. The data demonstrated on-target activity at very low plasma concentrations and suggest that ME-401 has a superior pharmacokinetic and pharmacodynamic profile compared to idelalisib. The U.S. Food and Drug Administration approved an Investigational New Drug application for ME-401 in B-cell malignancies in March 2016.

MEI Pharma owns exclusive worldwide rights to ME-401.

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