Taysha Gene Therapies is offering no-charge genetic testing to eligible patients by sponsoring GeneDx’s Hereditary Neuropathy Panel, which includes GAN

 

ABOUT GAN

  • GAN is a childhood-onset, rare, autosomal recessive, neurodegenerative disorder of the central and peripheral nervous systems (CNS and PNS)[1]
  • GAN is characterized by progressive sensory and motor neuropathy, and exhibits phenotypic variation with no correlation with specific genetic mutations to date[1,2]
  • GAN is caused by pathogenic mutations in the GAN gene resulting in a lack of functioning protein—gigaxonin, which is essential for neuronal function, and its loss can ultimately result in neuronal death[1,3]

 

Diagnosis of GAN relies on clinical findings, electrophysiologic measures, brain imaging, family history, and genetic testing[2,4]

  • Patients manifest differently across phenotypes with a classic, rapidly neurodegenerating phenotype leading to premature death and a slower-progressing phenotype with extended survival reminiscent of Charcot-Marie-Tooth axonal disorders[2]
  • Patients with the classic GAN phenotype present with a progressive multisystem disorder, often in the first decade of life, with symptoms typically starting before age 3, including severe sensorimotor neuropathy, cerebellar ataxia, cranial nerve involvement, bulbar symptoms, intellectual disability, pes cavus, scoliosis, distinctive tightly curled hair, and ophthalmologic abnormalities[3,5]
  • No clinical practice guidelines for GAN-related neurodegeneration have been published[2]
  • Care is focused on managing the clinical findings of the individual, often involving a multidisciplinary team[2]

Significant symptom overlap exists across peripheral neuropathies (ie, Charcot-Marie-Tooth disease). Genetic testing can confirm a diagnosis of GAN[2]

 

The Taysha Gene Therapies-sponsored Hereditary Neuropathy Panel Program can confirm a clinical diagnosis across many hereditary neuropathies, including GAN, to assist with the management of individuals with sensory and motor neuropathy, and potentially make patients and families aware of clinical trials of investigational gene therapies.

ELIGIBILITY CRITERIA CONFIRMATION
The Ordering Provider attests the Patient is eligible for the Program, which is available to patients who meet all four of the criteria listed below:

  1. The Patient must reside in the United States.
  2. The Patient must be affected with neuropathy.
  3. The Patient must not have prior genetic neuropathy confirmed by DNA test.
  4. The Patient must be 18 years old or younger.

AARS, ABHD12, AIFM1, ATL1, ATL3, ATP7A, BAG3, BICD2, BSCL2, CHCHD10, CNTNAP1, COX6A1, CYP27A1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, RETREG1, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HADHA, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PNKP, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN11A, SCN9A, SCO2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, VAPB, VCP, VRK1, WNK1, YARS

 

Conditions include:

  • Charcot-Marie-Tooth (CMT)
  • CMT with focal segmental glomerulosclerosis
  • Hereditary motor and sensory neuropathy (HMSN)
  • Hereditary sensory and autonomic neuropathy (HSAN)
  • Small fiber neuropathy (SFN)
  • Distal hereditary motor neuropathy
  • Giant axonal neuropathy (GAN)
  • Familial transthyretin amyloidosis
  • Fabry disease
  • Brown-Vialetto-Van Laere syndrome
  • Congenital insensitivity to pain (CIP)
  • Congenital insensitivity to pain with anhidrosis
  • Familial dysautonomia
  • HSAN with spastic paraplegia
  • Inherited erythromelalgia (IEM)
  • Menkes disease
  • Occipital horn disease
  • Paroxysmal extreme pain disorder (PEPD)
  • Riley-Day syndrome
  • Rosenberg-Chutorian syndrome
  • Spinal muscular atrophy with respiratory distress type 1 (SMARD1)

First, obtain a GeneDx (ordering provider) account number if you don't have one. If you have not previously ordered genetic testing through GeneDx, and don't already have an existing GeneDx Account, please call 1-888-729-1206 or email support@genedx.com for account set up. While this is a sponsored testing program and the test will not be billed to the account, each ordering provider is required to have their own GeneDx account number for ordering and reporting purposes.

There are two easy ways to order once you have an account number:

1. Paperless ordering via GeneDx Provider Portal

  • Log-in to the portal using your regular login credentials. New ordering providers can register for the portal and place orders the same day. Please provide your NPI number during the registration process for faster verification.
  • Click “order a test” on the GeneDx test catalog page and search for the hereditary neuropathy panel (test code 737)
  • Add the test to your shopping cart and click the cart in the upper right hand corner to start a new order.
  • In the payment section, select “BioPharma Sponsored” as the payment option. In the billing notes section add: “Biopharma Account Billing only – Do not bill patient or insurance”.

2. Download the Test Requisition Form (TRF) and request a collection kit

 

Request a Collection Kit

Complimentary buccal (oral cheek swab) or venipuncture (blood) collection kits are available online by completing the online order form or can be ordered as part of a paperless order via the GeneDx Provider Portal.

Collection kits will arrive approximately one week after submitting your request.

 

Sample Collection and Shipment

Please reference the important information below regarding sample requirements and best practices for the collection and shipment of blood and buccal samples:
 

  Buccal Sample Information

  Blood Sample Information


Note: Include a copy of the completed TRF (or portal order) together with the collected sample when shipping the collection kit to GeneDx to avoid processing delays.


Reports will be sent to the Ordering Provider via the reporting preference(s) specified (Portal, secure email and/or fax).

Hereditary Neuropathy Panel Program Sponsored by Taysha Gene Therapies

ELIGIBILITY CRITERIA CONFIRMATION
The Ordering Provider attests the Patient is eligible for the Program, which is available to Patients who meet all four of the criteria listed below:

  1. The Patient must reside in the United States.
  2. The Patient must be affected with neuropathy.
  3. The Patient must not have prior genetic neuropathy confirmed by DNA test.
  4. The Patient must be 18 years old or younger.

 

ABOUT TAYSHA GENE THERAPIES
At Taysha Gene Therapies, we believe the patient always comes first. This is why we are singularly focused on discovering, developing, and commercializing gene therapies for the treatment of monogenic diseases of the central nervous system (CNS), both in rare and large patient populations.

Taysha is currently conducting investigational gene therapy clinical trials for GAN. To learn more, click here.

Disclaimer:
By choosing to participate in this Taysha Gene Therapies-sponsored testing program (“the Program”), Ordering Provider understands GeneDx will send aggregate, de-identified test results data to Taysha Gene Therapies for research and/or commercial purposes, and that GeneDx is compensated for the provision of testing services and for data sharing with Taysha that is compliant with applicable law. Ordering Provider also attests they have obtained the consent of the Patient to have their de-identified test results data provided to Taysha Gene Therapies. At no time does Taysha Gene Therapies receive any personally identifiable information. Neither GeneDx nor Taysha will seek any reimbursement from a third party or insurance for the program. Taysha Gene Therapies will also receive contact information for Ordering Providers who use this Program. Neither Ordering Providers nor Patients who use this Program have any obligation to recommend, purchase, order, prescribe, promote, administer, or support any Taysha Gene Therapies product now or in the future.

References:

  1. Bharucha-Goebel DX, Norato G, Saade D, et al. Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort. Brain. 2021;144(10):3239-3250.
  2. Opal P. GAN-related neurodegeneration. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022.
  3. Hentati F, Hentati E, Amouri R. Giant axonal neuropathy. In: Said G, Krarup C, eds. Peripheral Nerve Disorders. Handbook of Clinical Neurology. Vol 115. Elsevier BV; 2013:933-938.
  4. Ashrafi MR, Amanat M, Garshasbi M, et al. An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. Expert Rev Neurother. 2020;20(1):65-84.
  5. Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Orphan peripheral neuropathies. J Neuromuscul Dis. 2021;8(1):1-23.