Treatment

There is currently no cure for HNRNPH2 genetic variations; however, there is HOPE!  In July 2024

the FDA officially approved the FIRST Human Clinical Trial for THREE HNRNPH2-RNDD patients! 

Based on the foundational research by institutions such as St. Jude Children's Research Hospital,

n-Lorem Foundation worked over the last few years to develop an ASO drug (anti-sense

oligonucleotide) and provides the drug itself at no cost.  The Clinical Trial is being administered

at Columbia University Irving Medical Center with financial support from YBRP for administrative

costs to ensure the success of this program and bring us closer to broader clinical trials and

treatment for ALL those with HNRNPH2-RNDD.

SPECIALISTS and THERAPISTS TO BE CONSULTED if DIAGNOSED with HNRNPH2 GENETIC VARIATIONS

It is important to note that not all HNRNPH2 patients will need all therapies or treatments.  In addition to traditional therapies, some patients have supplemented these with additional therapies and some patients take prescribed medications for anxiety, gastrointestinal issues, seizures, etc.  Each patient should work with their medical team to develop the appropriate therapeutic program that will meet their specific needs.  Below are a list of suggested therapies and/or specialists to consider based on the group as a whole.

Specialists that should be consulted:

• (Pediatric) Neurologist – some patients experience seizure activity
• (Pediatric) Orthopedist – most patients require orthotics for their feet, and some have other orthopedic issues such as scoliosis and hip dysplasia
• (Pediatric) Gastroenterologist – some patients have gastrointestinal issues such as reflux, esophagitis, difficulty gaining weight, feeding problems, etc.
• (Pediatric) Ophthalmologist or Neuro-Ophthalmologist – some patients have a visual impairment called Cortical Visual Impairment (CVI)

Therapists that should be considered:

• Physical Therapist
• Occupational Therapist
• Speech Therapist

May also want to consider:

• Developmental Pediatrician
• Aquatic Therapy
• Hippo Therapy