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Rare Disease Advocacy Groups Receiving FDA Orphan Designations

May 25, 2015




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.

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