HNF acknowledges that single-gene mitochondrial disorders are often go undiagnosed. Recognizing the symptoms, getting the diagnosis and early intervention is key to limit the progression of the disease.
It’s important to document the impact of Mito on the quality of life in childhood. Learning about the symptoms and joining HNF’s patient registry will help us prepare for pediatric clinical trials!
Participate by confidentially sharing your child’s health data. Join HNF’s Global Registry for Inherited Neuropathies (GRIN) & complete the Natural History study, followed by the Pediatric Quality of Life survey.
Note: For your child to participate in this study, please complete the natural history study and health and development survey. Once those two studies are completed, you can bypass the other listed studies and select pCMT QoL.
CMT GRIN Stats
Did you Know?
Of CMT Patients Reported the Absence of Reflexes
(Photo: Lindsey Flynt, Mito mom and Dr. Battersby)
The Battersby Lab, located at the Institute of Biotechnology at the University of Helsinki, funding from HNF to support their research into mitochondrial diseases and MTRFR/C12orf65 deficiency, also known as CMT6 with Leigh Syndrome.
“This donation provides us with critical experimental resourcing to perform some challenging experiments this year, which we need to show to secure large-scale funding for the therapeutic approach that I am developing in collaboration with Prof Robert Burgess (Jackson Laboratory, Bar Harbor, ME, USA).”
– Dr. Brendan Battersby, PhD., University of Helsinki
HNF Mito Fight
HNF is focused on the certain mitochondrial diseases
Pediatric CMT Natural History Study enhancement to their Charcot-Marie-Tooth (CMT) and Inherited Neuropathies (IN) patient registry, Global Registry for Inherited Neuropathies (GRIN).
HNF TRIAD Academic Partner Connecticut Children’s Publishes Results of CMT Pediatric Natural History Study to Better Understand Ankle Function and Gait HNF-funded research sought to determine how age and CMT type affect ankle strength in children. A detailed...
Hypotonia, or low muscle tone, can be caused by a variety of factors, including genetic conditions like Charcot-Marie-Tooth (CMT) disease
What are the key CMT milestones, markers, and interventional therapies to consider when raising a child with CMT?
Last summer HNF teamed up with the Penn Medicine Orphan Disease Center for the Million Dollar Bike Ride in Philadelphia.
HNF team hosts dinner at Child Neurology Society Meeting to discuss unmet needs of pediatric CMT population with expert pediatric neuromuscular neurologists
We answer questions from parents about treating their young children with orthopedic problems.