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CNTNAP1 / CASPR1


WELCOME TO THE CNTNAP1 ORGANIZATION


 

 

We are 5 families in 5 different countries, who have incredible children who have the gene mutation CNTNAP1 / CASPR1.

 

This very rare genetic mutation makes it very difficult for us to get help. Because there are so few people in the world with this disorder, there are very few researchers who have worked with CNTNAP1.

 

When someone has the CNTNAP1 gene defect, it means that you are missing the

 gene to connect the myelin sheild to all the nerve pathways that send all signs from

the brain into the whole body. This makes it extremely difficult for the muscles to

work properly throughout the body.

 

There are different degrees of severity in CNTNAP1, every gene mutation is different.

 The affects and severity of CNTNAP1 vary from child to child. From the research we

have found, the most severe studies had children who had passed away within the

 first 7 months of birth.

 

We would like to share our journies with CNTNAP1. We are five different families with

 five different stories. We would like to share all of the knowledge that we have gained

 while caring for our children and connect with other families who are also navigating

 through this rare genetic disorder.

 

Our ulitmate goal would be to collect as much data and knowledge as we can so the

researchers hopefully get succes in finding a treatment with gene therapy create hope

for others that have gene errors 

 

 

Other names for cntnap1:


 

contactin-associated protein 1

 

Caspr1

 

NRXN4

 

P19

 

neurexin IV, neurexin-4

 

Paranodin

 

NCP1

 

related diseases :Lethal congenital contracture syndrome 7

 

category under: Charcot-Marie-Tooth disease (CMT) and CHN and CNS

 

 

CNTNAP1 FAMILIES

NEWS & PRESS




10/8 2018


GENE THERAPY


Adeno-associated viral (AAV) vectors are a rapidly emerging gene therapy platform for the treatment of neurological diseases. In preclinical studies, transgenes encoding therapeutic proteins, microRNAs, antibodies or gene-editing machinery have been successfully delivered to the central nervous system with natural or engineered viral capsids via various routes of administration. Importantly, initial clinical studies have demonstrated encouraging safety and efficacy in diseases such as Parkinson disease and spinal muscular atrophy, as well as durability of transgene expression. Here, we discuss key considerations and challenges in the future design and development of therapeutic AAV vectors, highlighting the most promising targets and recent clinical advances.


20/9 2018

 

FIRST GENE THERAPY WINS WORLD`s LARGEST VISIONS AWARD

 

The Antonio Champalimaud Vision Prize for this year was awarded to seven researchers from the United States and Britain who developed revolutionary gene therapy for a form of inherited childhood blindness, Portugal Champalimaud Foundation announced Tuesday.

 

 

CONTACT US

Nørregårdsvej 87, 2610 Rødovre.


Denmark.

(+45)25422003

Cntnap1@hotmail.com

 
 
 
 

FIND US



Rare Genetic Diseases


CVR-nr.: 39833794

Nørregårdsvej 87, 2610 Rødovre

Telephone: (+45) 25422003

Email: Cntnap1@hotmail.com


OPENING HOURS




Monday & Tuesday: Appointment

Wednesday to Friday: 6PM to 4AM

Saturday & Sunday: 6PM to 6AM


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