GRIN

Pediatric CMT Natural History Study Enrollment Opening at Two Centers of Excellence

by | Aug 31, 2023 | 0 comments

The Hereditary Neuropathy Foundation (HNF), today announces a Pediatric CMT Natural History Study enhancement to their Charcot-Marie-Tooth (CMT) and Inherited Neuropathies (IN) patient registry, Global Registry for Inherited Neuropathies (GRIN). GRIN is an IRB approved; patient consented registry. This research consortium consists of researchers and clinical experts, including various partnerships globally (CMT advocacy groups, data scientists, genetic experts and industry).

CMT is a group of inherited disorders with 128 genes responsible for all the CMT subtypes, CMT1A being the most common. GRIN acquires, records, and analyzes patient-reported data and associated genetic reports to identify the burden, diagnostic journey and prevalence of disease. CMT impacts the quality of life starting in childhood and is progressively debilitating. Currently, there are no treatments, but there are many potential therapies in the pipeline. There are still gaps in understanding the natural history of the disease and phenotype genotype correlation, especially in younger patients.

Together with Dr. Vamshi Rao, Lurie Children’s Hospital in Chicago, IL; and Dr. Aravind Veerapandiyan, Arkansas Children’s Hospital, Littlerock, AR; the HNF seeks to establish a Pediatric Natural History Study by collecting the validated, clinical CMT scales in the GRIN registry. Pediatric patients seen by Drs. Rao and Veerapandiyan will be asked to join GRIN and participate in the study by consenting to have their clinical data including CMTPedS or CMTInfS scores entered into GRIN. Staff at both sites have been certified to conduct the evaluations. If you would like to be considered for the study, or if you would like to nominate your pediatrician or pediatric neurologist to participate in the study, please complete this contact form.

Currently, data from GRIN shows pediatric patients ages 0-17 diagnosed with CMT are broadly affected with a wide spectrum of symptoms. CMT impacts quality of life starting in childhood. 22.3% of CMT patients experienced initial symptoms during early childhood, between ages 0 and 5 years. About half (50.5%) of CMT patients had symptoms onset before the age of 16 years. 55% of symptoms were noticed by family members before official diagnosis. This Pediatric CMT Natural History Study seeks to expand upon these findings which will have important implications for design of clinical trials and identification of meaningful endpoints. It’s critical that pediatric physicians encourage enrollment of patients in GRIN.

Current locations recruiting are:

Arkansas Children’s Hospital

Dr. Aravindhan Veerapandiyan

1 Children’s Way

Little Rock, AR 72202-3591

To participate contact: [email protected]

Ann and Robert H. Lurie Children’s Hospital of Chicago

Dr. Vamshi Rao

225 East Chicago Avenue

Chicago, IL 60611

To participate contact: [email protected]

Learn more on this topic

Related Blog Posts

The Long Road to Diagnosis Renews Dedication to Advocacy

The Long Road to Diagnosis Renews Dedication to Advocacy

Growing up we called it “Steffi disorder.” My friends and family were as baffled as my expert neurologists. I had been diagnosed with typical Spiral Muscular Atrophy (SMA) as a toddler but never followed its progression; I never seemed to get weaker. My myriad of symptoms was distinctly different than anyone else’s I had ever met in a lifetime living in the neuromuscular community. I thought I might never find my true diagnosis, let alone others who share it with me.

A New Mouse Model for Charcot-Marie-Tooth (CMT2)

We were recently informed that The Jackson Laboratory (JAX, a nonprofit biomedical research institution headquartered in Bar Harbor, Maine) had taken delivery and will be distributing a newly generated CMT-related mouse model. The new model expresses mutant mitofusin 2, a mitochondrial membrane protein involved in mitochondrial fusion and regulation of vascular smooth muscle cell proliferation.

Hot Off the Press – Potential Treatment for CMT1A

Two recent publications from Pharnext describe a novel synergistic combination of 3 drugs (baclofen, naltrexone and sorbitol) and its effect on CMT1A both in the lab and in a phase II clinical trial. These 3 drugs already approved but for unrelated conditions, are combined at new optimal lower doses and under a new formulation. This novel potential therapeutic is called PXT-3003.

Support CMT Therapeutic Alliance

HNF has entered into a joint venture – the CMT Therapeutic Alliance – with a unique non profit organization (BioPontis Alliance for Rare Diseases) that brings professional drug discovery capabilities to translate our research results into potential treatments.

Scientific Advisory Board Meeting

Scientific Advisory Board Meeting

On the 7th of November we convened our scientific advisory board meeting at the HNF offices in NY. We have written a detailed review that has been published and captures all of the discussion and make this freely available to the scientific community.

Breaking News: First Therapeutic Gene Therapy to Treat an Inherited Neuropathy is Approved for Clinical Trial!

The first disease community to receive a therapeutic gene to the spinal cord for an ultra rare inherited neuropathy is Giant Axonal Neuropathy (GAN). Congratulations to Hannah’s Hope Fund (HHF), a 501(c)3 public charity, which has driven this collaborative research in less than six years. Six million dollars has been raised to date to fund pre-clinical and clinical research on this rare disease.

Pharnext Announces Pleotherapy Proof of Concept in Charcot-Marie-Tooth Disease Type 1A

Pharnext Announces Pleotherapy Proof of Concept in Charcot-Marie-Tooth Disease Type 1A

PARIS, December 18th, 2014 – Pharnext SAS today announced the proof of concept of its pleotherapy research and development approach based on a proprietary network pharmacology platform that identifies synergic combinations of drugs already approved for other diseases. Indeed, Pharnext’s lead pleodrug, PXT-3003, has shown positive results both in preclinical and Phase 2 clinical studies published today in the Orphanet Journal of Rare Diseases.

Join the conversation

Leave a Comment

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

Newsletter

Join for notifications on events, campaigns, & news