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PTC Therapeutics And DMD: STRIVE Patient Advocacy Grant Program


PTC Therapeutics, a New Jersey biopharmaceutical company, announces this month, that the company is launching a new grant awards program, STRIVE (Strategies to Realize Innovation, Vision, and Empowerment). The purpose of the program, which will focus on Duchenne Muscular Dystrophy (DMD) for 2015, is to provide funds to nonprofit patient advocacy organizations for the support of new programs that will benefit the DMD community through:

•   Improving diagnosis & treatment of DMD patients

•   Educating public & healthcare professionals

•   Increase visibility of DMD

•   Identify & foster next generation of DMD patient advocates.

Five one-year awards of up to $30,000 each will be given to the proposals identified by a panel of judges. The deadline for proposal submission is June 22, 2015, with the awards being announced on World Duchenne Awareness Day, September 7, 2015.

To receive detailed information about the application and submission process, one can send an E-Mail, with “STRIVE Award Process” in the subject line, to

Please Note: “CSIRO ScienceImage 7630 Test Tubes” from CSIRO [CC BY 3.0] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

Agilis Biotherapeutics And Collaboration: Rare Disease Gene Therapies




Agilis Biotherapeutics is a biotechnology company focusing on DNA-based therapeutics for rare diseases that affects the Central Nervous System (CNS). The company has formed both academic and corporate collaborations for advancing gene therapies for rare diseases:

•   University of South Florida and Angelman Syndrome

•   Intrexon Corporation and Friedreich’s Ataxia.

I – Angelman Syndrome

Agilis Biotherapeutics announces this month, that it has entered into an exclusive worldwide license agreement with the University of South Florida (USF) for a gene therapy treatment for the rare disease Angelman Syndrome (AS). The gene therapy technology is developed by Edwin Wheeber, PhD, Director of the Neurobiology of Learning and Memory and Chief Scientific Officer at USF’s Health Byrd Alzheimer’s Research Institute.

AS is a genetic disorder causing developmental disabilities and neurological problems. Frequent smiles and outbursts of laughter are common in people with AS; many have happy, excitable personalities. About 1 in 15,000 births are affected and there are currently no treatments. It is caused by the lack of function of a gene, UBE3a.

Per the May 2015 press release, Dr. Weeber commented that:

Angelman Syndrome continues to represent a rare CNS disorder with significant unmet medical need. Our research has demonstrated that restoration of UBE3a function has the potential to address many of the neurological symptoms of AS, and to positively impact the quality of life by addressing Angelman’s CNS manifestations.

II – Friedreich’s Axtaxia

Agilis Biotherapeutics and Intrexon Corporation, a synthetic biology company, announce in December 2013, an Exclusive Channel Collaboration (ECC) to develop DNA-based therapeutics (gene therapies) for the rare genetic neurodegenerative disease, Friedreich’s ataxia (FRDA).

Agilis Biotherapeutics will use Intrexon Corporation’s UltraVector platform and RheoSwitch Therapeutic System (RTS) for developing gene therapy for FRDA. Per the December 2013 press release:

“The goal of the ECC is to develop DNA-based therapeutics to repair or replace the “broken” gene in FRDA and enable increased production of the frataxin protein to alleviate the downstream effects of frataxin deficiency.”

FRDA is first described by Nikolaus Friedreich, a German pathologist, in 1863, and the gene is discovered in 1996. FRDA is a rare genetic condition that affects the nervous system and results in movement problems. Over time, muscle coordination (ataxia) worsens, there is loss of strength and sensation in arms and legs, impaired speech, and spasticity may occur. The disease is caused by mutations in the FXN gene, which provides instructions for making a protein called frataxin. Frataxin is important for the normal function of mitochondria, the energy-producing centers within cells. FRDA affects approximately 1/40,000 people. There are an estimated 5,000 – 10,000 patients in the United States. There is no current FDA approved treatment.


Angelman Syndrome Foundation

Ataxia UK

Foundation for Angelman Syndrome Therapeutics (FAST)

Friedreich’s Ataxia Research Alliance (FARA)

National Ataxia Foundation (NAF).

Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

Rare Disease Advocacy Groups Receiving FDA Orphan Designations





Rare disease patient families are setting up not-for-profit organizations, leading the way for funding research and accelerating the drug approval process. This Blog Post looks at two rare disease advocacy groups that have received FDA Orphan Drug Designation (ODD) for novel gene therapies:

•   Hannah’s Hope Fund (HHF)

•   National Tay-Sachs and Allied Diseases Association (NTSAD).

I –  HHF And Giant Axonal Neuropathy

Several years ago, Hannah Sames is diagnosed with GAN. HHF, a 501(c)(3) public charity, is created by Hannah’s parents, Matt and Lori Sames, for the purpose of raising “funds to support the development of a treatment and cure for GAN, and to be the resource for doctors, scientists and families worldwide.” Lori Sames is honored recently at the National Organization of Rare Disorders’ (NORD) Portrait of Courage celebration.

GAN is an ultra-rare disease, with only about fifty cases worldwide. GAN is a recessively inherited condition that results in progressive nerve death, with patients typically becoming quadriplegic. The disease is caused by a dysfunction of a gene called gigaxonin. Without gigaxonin in nerve cells, proteins can’t be broken down and accumulate, resulting in swollen axons.

HHF receives FDA ODD in September 2013 for a gene therapy treatment for GAN. A Phase I clinical trial (“Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy”; NCT02362438), the world’s first spinal cord therapeutic gene treatment, will evaluate the novel gene therapy for GAN. The clinical trial is currently recruiting participants. HHF helped to fund this investigational treatment.

HHF’s Gene Therapy FDA Orphan Drug Database Record

Generic Name: Self-complimentary adeno-associated virus vector, serotype 9, packaging the full length GAN gene in the viral capsid
Trade Name: n/a
Date Designated: 09-27-2013
Orphan Designation: Giant Axonal Neuropathy
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Hannah’s Hope Fund 19 Blue Jay Way Rexford, NY 12148


II –  NTSAD And Sandhoff/Tay-Sachs Diseases

NTSAD is one of the oldest patient advocacy groups in the US, founded more than 50 years ago by parents whose children were affected by Tay-Sachs and other Lysosomal Storage Disorders (LSDs). LSD is a group of genetically inherited disorders, characterized by the deficiency of an enzyme that prevents the proper breakdown of undigested material inside cells. This results in the accumulation of substrate in tissues and organs of the body, resulting in progressive deterioration. No cure currently exists for Tay-Sachs and Sandhoff Diseases.

NTSAD supports research through the Research Initiative and other collaborative programs. NTSAD “pioneered the development of community education about carrier screening programs for Tay-Sachs and related diseases, which became models for all genetic diseases.” NTSAD receives two FDA ODDs (March 2013) for a novel gene therapy for both rare diseases.

The gene therapy in development corrects an enzyme deficiency that causes the progressive neurodegeneration in both diseases. The experimental gene therapy uses Adeno-Associated Virus (AAV)-based gene therapy.

NTSAD’s Gene Therapy FDA Orphan Drug Database Record

Row  Num Generic   Name Designation  Date Orphan  Designation
1 recombinant   adeno- associated virus vector   AAV2/rh8 expressing human B-hexosaminidase A   and B subunits 03-25-2013 Sandhoff Disease
2 recombinant   adenovirus vector AAV2/rh8   expressing human B-hexosaminidase A & B   subunits 03-25-2013 Tay-Sachs Disease


**   “Generic Name” Column Link = Is the FDA Orphan Drug Product Designation Database Record.

Please Note: “Kid Hugging a Rainbow” by Marendo Müller, artwork (Own work) [Public domain] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

6 New FDA Orphan Drug Designations: Week of 05/18/15






The chart below identifies 6 new FDA Products Receiving Orphan Designation for the week of 05/18 – 05/22/15 as of 05/22/15 in ascending “Orphan Drug Designation Date” order.

FDA Products Receiving Orphan Drug Designation (Week of 05/18 – 05/22/15)

 # Generic Name/ODD Date Sponsor Company Indication
1 Revusiran/ 05.18 Alnylam Pharmaceuticals Transthyretin Amyloidosis
2 Xenon Gas/ 05.18 Neuroprotexeon (UK) To improve neurological outcome in hospitalized cardiac arrest patients
3 Chloroquine/ 05.20 DualTpharma B.V. (Netherlands) Glioblastoma Multiforme
4 Lutetium (177Lu)-edotreotide/ 05.21 ITG Isotope Technologies Garching GmbH (Germany) Gastro-entero-pancreatic neuroendocrine tumors
5 poly-CD-PEG-camptothecin/ 05.21 Cerulean Pharma Ovarian Cancer
6 Echinomycin/ 05.21 Oncolmmune Inc. Acute Myeloid Leukemia


** Generic Name/ODD Date” Column Link = Is the FDA Orphan Drug Product Designation Database Record.

Please Note : “Two small test tubes held in spring clamps” courtesy of  Amitchell125 at English Wikipedia [CC-BY-SA-30] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

Sanfilippo Syndrome Gene Therapy: PlasmaTech Biopharmaceuticals’ Rare Pediatric Disease Vouchers


PlasmaTech Biopharmaceuticals, a Dallas-based biopharmaceutical company focusing on protein biologic therapies and oncology supportive care products, announces on May 20th, that the FDA has granted Rare Pediatric Disease Designations to both of their investigational Gene Therapy products for Sanfilippo Syndrome (SF), MPS IIIB and MPS IIIA:

•   Gene Therapy product ABX-101 for MPS IIIB

•   Gene Therapy product ABX-102 for MPS IIIA.

Per the news release:

“Under the FDA’s Pediatric Disease Priority Review Voucher program, upon the approval of a qualifying new drug application (NDA) or biologics license application (BLA) for the treatment of a rare pediatric disease, the sponsor of such application would be eligible for a Pediatric Disease Priority Review Voucher that can be used to obtain priority review for a subsequent NDA or BLA. The FDA defines a “rare pediatric disease” as a disease that affects fewer than 200,000 individuals in the U.S. primarily aged from birth to 18 years. The Priority Review Voucher may be sold or transferred an unlimited number of times.”

PlasmaTech Biopharmaceuticals obtained both gene therapy products as a result of the company’s recent completion of the acquisition of Abeona Therapeutics. In April 2014, the FDA grants Abeona Therapeutics’ two gene therapies for Sanfilippo Syndrome Types A and B, Orphan Drug Designation (ODD):

 # Generic Name/ODD Date Sponsor Company Indication
1 Recombinant AAV9 expressing human sulfoglucosamine sulfohydrolase/ 04.29.14 Abeona Therapeutics MucopolysaccharidosisType III-A(Sanfilippo SyndromeType A)
2 Recombinant AAV9 expressing human alpha-N-acetylglucosaminidase/ 04.30.14 Abeona Therapeutics MucopolysaccharidosisIII-B(Sanfilippo SyndromeType B)


Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

Europe’s May 2015 Products Recommended For Orphan Drug Designation


The European Medicines Agency (EMA) Committee for Orphan Medicinal Products (COMP) held a meeting May 12 – 13, 2015.

At this meeting, there are 11 positive opinions recommending the following medicines for designation as orphan medicinal products. COMP’s opinions are forwarded to the European Commission (EC). The EC will then decide whether to grant an orphan designation for the medicines in question. Public summaries of the opinions will be available on the EMA website following adoption of the respective decisions on orphan designation by the EC.


Recommended ODDs for:

•   2 Lymphoma indications for Roche’s Gazyva (Obinutuzumab)

•   Ultragenyx’s Triheptanoin for very long-chain acyl-CoA dehydrogenase deficiency

•   Mitsubishi Tanabe Pharma’s Edaravone for ALS

•   2 Gene Therapies (adeno-associated viral vectors):

  1. Hemophilia B (Baxter)
  2. Spinal Muscular Atrophy (AveXis).


EMA COMP May 2015 ODDs Recommended

Product Name Sponsor Company Indication
3-{[2,3,5,6-tetrafluoro-3′-(trifluoromethoxy)biphenyl-4-yl]carbamoyl}thiophene-2-carboxylic acid Panoptes Pharma Ges.m.b.H. Non-infectious uveitis
Allogeneic ex-vivo-expanded human umbilical cord blood-derived mesenchymal stem cells PSR Group B.V. Prevention of bronchopulmonary dysplasia
Antisense oligonucleotide directed against TGF-β2 mRNA Isarna Therapeutics GmbH Prevention of scarring post glaucoma filtration surgery
Obinutuzumab Roche Marginal zone lymphoma
Obinutuzumab Roche Follicular lymphoma
Synthetic 47-amino-acid N-myristoylated lipopeptide, derived from preS region of Hepatitis B virus MYR GmbH Hepatitis delta virus infection
Adeno-associated viral vector containing human factor IX gene Baxter Hemophilia B
Adeno-associated viral vector serotype 9 containing human SMN gene AveXis EU, Ltd Spinal Muscular Atrophy
Edaravone Mitsubishi Tanabe Pharma Europe Ltd ALS
Trehalose Dr. Ulrich Granzer Spinocerebellar ataxia
Triheptanoin Ultragenyx UK Limited Very Long-chain acyl-CoA dehydrogenase deficiency


Please Note: “Erlenmeyer Flasks” From Argonne US National Lab  [Public domain in the US] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

AbbVie’s Humira: Multiple FDA Orphan Drug Designations


Orphan drug companies have used with tremendous success as part of their drug life cycle management, the strategy to extend the life of their product by devising a succession of multiple discrete indications for the orphan drug. This strategy is critical to the continued financial success for orphan drug companies, especially when facing the challenges of generic competition and the demise of the traditional blockbuster drug strategy. The advantage of using multiple indications is that it allows a company to progressively expand the drug’s market.

AbbVie announces on May 15th that Humira (Adalimumab) receives FDA Orphan Drug Designation (ODD) for the investigational treatment of moderate to severe Hidradenitis Suppurativa (HS). AbbVie’s supplemental Biologic License Application (sBLA) for FDA approval for Humira for this indication, is currently under review.

HS, also known as acne inversa, is a chronic skin disease with painful and recurrent boil-like lumps (nodules) under the skin. Nodules can break open causing abscesses. There is currently no cure or approved drugs.

AbbVie’s Humira receives FDA ODD for the following indications:

Num FDA ODD Date/Approval Date Indication
1 03-21-2005/ 02.21.2008 & 09.30.2014 Moderately to severely active polyarticular juvenile idiopathic arthritis for 2 yrs & older
2 10.19.2006/ 09.23.2014 Pediatric Crohn’s Disease
3 05.11.2011 Pediatric Ulcerative Colitis
4 05.13.2014 Non-infectious intermediate, posterior, or pan-uveitis, or chronic non-infectious anterior uveitis
5 05.13.2015 Moderate to severe hidradenitis suppurativa


Please Note: “Abstract pills” by Robson# (Flickr: Pills here) [CC-BY-2.0] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.


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