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COMMUNITY

FAMILY SUPPORT

We provide a variety of support and resources for our families, from an online community of parents to connect with to accurate information that you can pass along to your doctors.

 

If you have just received a diagnosis and don't know where to turn please get in touch, we have been there and can offer advice and a shoulder to cry on. It is such a difficult and lonely time we want to be there to support you. All our families have been through what you are feeling and we are here to support each other and to go through this journey together

 

 

Please get in touch for further information and to join us in our fight for a cure

FOLLOW OUR JOURNEY TO FIND A CURE

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Do you know someone with H-ABC?*

FREQUENTLY ASKED QUESTIONS

WHAT IS THE CAUSE OF H-ABC?


H-ABC is caused by a mutation in the TUBB4A gene.Unlike other genetic disorders, H-ABC is usually not inherited from a parent. Instead, ittypically emerges as a random mutation(de novo)in the affected individual




HOW MANY PEOPLE HAVE H-ABC?


As of 2019,there arefewer than 200documentedcases of H-ABChave been identified,the majority of which are children. However, that number is on the riseas patientshave access to better clinical diagnosis.H-abccan present similarly to other conditions,such as Cerebral Palsy, and therefore misdiagnosis is common




WHAT ARE THE SYMPTOMS OF H-ABC?


The symptoms tied to H-ABC usually begin in infancy or early childhood and vary inseverity. Each child is affected differently; however, here are some symptoms observed atearly onset: Usually children affectedstartmissingmilestones at infant or toddler stage. Developmental delaysare common first signs. Other symptoms include:

  • Low muscle tone(dystonia)
  • Poor coordination
  • Speech problems
  • Difficulty eating
  • Involuntary movements
  • Rigidity
  • Deafness
  • Poor vision
  • Seizures
  • Muscle and limb stiffness
  • Learning difficulties
  • Problems paying attention
  • Loss of balance
  • Immobility (initial or over time)




HOW IS THIS CONDITION DIAGNOSED?


H-ABC is diagnosed basedona combination ofgenetic testing,physical symptomsandbrain imaging(using MRI). Magnetic resonance imaging (MRI) of the brain is a key part of the process, as it candetect brain tissuemorphologythat are characteristic of H-ABC. However, genetictesting(by whole exome or whole genome sequencing)is the only meansof accuratediagnosis of H-ABC through identificationmutationin the TUBB4A gene.




IS THERE A CURE FOR H-ABC?


Currently, there is no known cure for this disablingand life-threatening condition. For those affected by H-ABC, some treatmentssuch asphysical therapy and certainmedicationmay alleviate symptoms and improve quality of life.




WHAT IS BEING DONE TO FIND A CURE?


The good news is that research is currentlyunderway. Children's Hospital ofPhiladelphia (CHOP), for example, has already started exploring gene therapy, which isthe wave of the future in curing manygeneticdiseases.Gene therapy can take on manyforms. In particular,Antisense Oligos (ASOs)therapy has gained traction in treatingneurological disease. ASOsare short, synthetic, single-stranded oligodeoxynucleotidesthat can alter gene expression (RNA) and reduce, restore, or modify protein expression. By targeting the source of the pathogenesis,ASO-mediated therapies have a higherchance of success than therapies targeting downstream pathway. Two ASO-mediatedtherapies havealreadyreceived approval from the US Food and Drug Administration(FDA)for the treatment of Duchenne muscular dystrophy (DMD) and spinal muscularatrophy (SMA). Researchinto the mechanismsof the disease ismaking significant progress. Precisetargeting of TUBB4A requires meticulous ASO design to ensure that it does not bind other related members of the Tubulin gene family. CHOP is currently screening ASOpanels in both human cell lines and mouse models to find the best candidates. Once that stage is completed,the team will need to obtain FDA approvalfor a clinical trial to proceed.




HOW CAN I GET INVOLVED?


The children don’t have much time. Their condition is deteriorating by the day. We need all the help we can get to accelerate the research for this treatment to reach clinic as fast as possible. If you know someone who has been diagnosed with H-abc or Tubb4a please ask them to enrol on the natural history study at CHOP using the link below. This will facilitate understanding of theprogression of the disease which also play a role in defining our clinical protocols. Equally,if you know anyone whose child has an unknown diagnosis which might fit the symptoms described here, do not hesitate to approach your clinicianto request for a clinical genetic test. Raising funds and awareness is vital, please contact us using the contact page if youwould like to jointhe mission.





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H-ABC FOUNDATION UK

Raising funds and awareness to help find a cure for H-ABC. 

Registered charity number 1190390

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