Skip to content

2 New FDA Orphan Drug Designations: Week of 05/25/15

 

 

 

 

 

The chart below identifies 2 new FDA Products Receiving Orphan Designation for the week of 05/25 – 05/29/15 as of 05/30/15 in ascending “Orphan Drug Designation Date” order.

FDA Products Receiving Orphan Drug Designation (Week of 05/25 – 05/29/15)

 # Generic Name/ODD Date Sponsor Company Indication
1 Prasugrel Hydrochloride/ 05.26 Eli Lilly Sickle Cell Disease
2 Adult Hemogenic Endothelial Cells/ 05.27 HemoGenyx Aplastic Anemia

.

** 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.

Advertisements

Guest Blogger: 1st International Congress on Clinical Genetics And Genetic Counselling In Rare Diseases

The 1st International Congress on Clinical Genetics and Genetic Counselling in Rare Diseases was held in April 2015 in Seville, Spain. The Orphan Druganaut Blog is honored to have Cristina Payán, biotechnologist and specialist in rare diseases as Guest Blogger. Ms. Payán, Science Committee Chair of Genetic insidER and organizer of the meeting, writes a summary. For additional information, please reference the website or contact Genetic insidER at info@genetic-insider.com.

The 1st International Congress on Clinical Genetics and Genetic Counselling in Rare Diseases was held in Seville, Spain, April 16-17, 2015. Ramaiah Muthyala, PhD., President and CEO of the Indian Organization for Rare Diseases (I-ORD) and Associate Director of the Center for Orphan Drug Development at the University of Minnesota, was the Guest of Honour.

Dr. Muthyala indicated the importance of these types of conferences and the support received in order to increase and improve networks among different actors in the rare disease space, in order to translate the problem of these pathologies to governments.

Another significant detail of the first edition of the Congress was the attendance of 30 top-level speakers  in the rare disease field, specifically working on genetics of these pathologies and providing genetic counselling every day to patients and families, and the support received by public and private institutions both at the national and international level.

The 1st International Congress on Clinical Genetics and Genetic Counselling in Rare Diseases took place at NH Collection Hotel in Seville with about 60 attendees from different countries. At the conference’s round table sessions, diagnostic and genetic topics were discussed about the importance of new emergent technologies, such as NGS. Moreover, various ethical considerations were also discussed, and an emphasis was placed on the need for good practices in the communication of the genetic information to patients and families that “increasingly demand support and training, but above all, more empathy and sensitivity by clinical and sanitary professionals”.

For Pablo Valera, CEO of Genetic insidER and organizer of the Congress, the purpose of this scientific meeting has been to know that “there is a need to train clinical professionals and specialists in clinical genetics and genetic counselling, because genetic conditions and, specifically rare conditions, have a high impact on the individual’s health and result in increased morbidity and mortality, and without this training it won’t be possible to help patients to understand the implications of their hereditary diseases”.

Meeting Logo courtesy of Genetic insidER. Orphan Druganaut is a Meda Partner.

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

Pfizer And Rare Lung Disease: FDA Approval Of Rapamune For Lymphangioleiomyomatosis (LAM)

The FDA announces late on May 28th, that Pfizer’s Rapamune (Sirolimus) is approved for the treatment of Lymphangioleiomyomatosis (LAM), a rare and progressive lung disease that affects mostly women of childbearing age. This is the first FDA approved drug for treating LAM.

Rapamune is available as both an oral solution and a tablet. Originally in 1999, Rapamune is approved as an immunosuppressive agent to help prevent organ rejection in patients 13 years and older receiving kidney transplants. According to the FDA Press Release, Rapamune received a Breakthrough Therapy Designation (BTD), priority review, and Orphan Drug Designation (ODD):

Generic Name: Sirolimus
Trade Name: Rapamune
Date Designated: 10-31-2012
Orphan Designation: Lymphangioleiomyomatosis (LAM)
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Pfizer, Inc. 500 Arcola Road Collegeville, PA 19426

.

LAM is a rare lung disease found mostly in women that results in progressive cystic lung destruction. Besides the lungs, LAM can affect other organs including lymph nodes and kidneys. LAM is a “destructive, metastasizing neoplasm of smooth muscle-like cells that leads to progressive cystic lung disease. The disorder causes shortness of breath, lung destruction, respiratory failure, and death.” The disease originates from mutations in tuberous sclerosis complex (TSC) genes or can occur in otherwise healthy women (sporadic LAM). There is currently no cure or FDA-approved drug for LAM.

LAM Statistics

•   Approximately 200,000 LAM patients worldwide

•   At least 200 new cases of LAM diagnosed each year in the US

•   Average age of diagnosis is 35

•   After 10 years :

  1. 55% experience shortness of breath
  2. 20% require supplemental oxygen
  3. 10% die.

References

LAM Foundation

LAM Health Project.

Please Note: “Marty Schmidt in the Himalayas” by Sdiangelo (Own work) [CC-BY-SA-4.0]  | Wikimedia Commons.

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

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 STRIVE@ptcbio.com.

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.

References

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.

%d bloggers like this: