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Sanfilippo Syndrome

What is Sanfilippo Syndrome?

Sanfilippo Syndrome is a rare autosomal recessive metabolic disorder characterized by severe neurological symptoms.

 

Sanfilippo Syndrome is a rare autosomal recessive metabolic disorder characterized by severe neurological symptoms.
Acknowledgement of Sanfilippo Syndrome has not been added yet.
1.1http://www.orpha.net
Synonyms for Sanfilippo Syndrome has not been added yet.
Cause of Sanfilippo Syndrome has not been added yet.
There are several symptoms that affect people with Mucopolysaccharidosis type 3.
Name Description
Progressive dementia Progressive dementia
Aggressive behavior Aggressive behavior
Hyperactivity Hyperactivity
Seizures Seizures
Diagnosis of Sanfilippo Syndrome has not been added yet.
Diagnostic tests of Sanfilippo Syndrome has not been added yet
Treatments of Sanfilippo Syndrome has not been added yet.
Prognosis of Sanfilippo Syndrome has not been added yet.
Tips or Suggestions of Sanfilippo Syndrome has not been added yet.
References of Sanfilippo Syndrome has not been added yet.
Cure Sanfilippo Foundation Created by RareshareTeam
Last updated 29 Jul 2018, 03:56 PM

Posted by RareshareTeam
29 Jul 2018, 03:56 PM

When Eliza O'Neill was diagnosed with Sanfilippo Syndrome, her family started their own nonprofit.  So far, the Cure Sanfilippo Foundation has raised over $5.5 million to combat the rare genetic disease.  Read their story here.

SANFILIPPO MOTHER EXPERT Created by CECILIA
Last updated 3 Nov 2009, 08:24 PM

Posted by Pattyt
3 Nov 2009, 08:24 PM

Cecilia, You are too kind. Thank you for your kind words. I am sure there are many experts out there, they have just not found their way here yet. My best to you and Fiorella. In Love, Patty

Posted by CECILIA
2 Nov 2009, 05:21 AM

Thanks God, I found Patty, Jesse s mother as soon as Fiorella my daughter was diagnosticated by MPS III A Sanfilippo s syndrome, same than him, and she is my guide and my hope resources. So, I suggest to name her OUR SANFILIPPO LEADER !!!!!! Also, if anyone has new info about this disorder....thanks a lot,CECILIA

Community External News Link
Title Date Link
Lysogene and Sarepta Therapeutics Announce Dosing of the First Patient in AAVance, a Phase 2/3 Clinical Trial Investigating LYS-SAF302, a Gene Therapy for the Treatment of MPS IIIA (Sanfilippo Syndrome Type A) 02/19/2019
Treatment in Texas: For families of kids with rare diseases, it’s a full-time job to advocate for, raise millions for research 12/12/2021
A Doctor And Mother's Plea To FDA To Help Save Children With Rare Disease 01/07/2024
Community Resources
Title Description Date Link

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Married 30 years, mother of 2 young men. One is 27 and the other 14 years young. Careers previously centered around breeding, training and schooling horses and training students for high level...
We are the parents of 2 wonderful children, a son (age 20) & daughter (age 17). Daughter was diagnosed with Sanfilippo Syndrome - Type A (MPS III-A) just before 3rd birthday. We are pleased to say...
Hello, I am the mother of Andrew. He has MPS III B. He is 11. He was diagnosed when he was 4. He has a g-tube and also a VP Shunt.
I am Fiorella s mother who is almost 6 years old and was recently diagnosticated with MPS III A SANFILIPPO SYNDROME

 

I would like to share experiences with other parents in the same situation....

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Cure Sanfilippo Foundation

Created by RareshareTeam | Last updated 29 Jul 2018, 03:56 PM

SANFILIPPO MOTHER EXPERT

Created by CECILIA | Last updated 3 Nov 2009, 08:24 PM


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