About

The PND association is a disease organization representing children and families who are affected by a pediatric neurotransmitter disease.

We currently represent the following dopamine related pediatric neurotransmitter diseases:

• Tyrosine Hydroxylase Deficiency (TH)
• Aromatic L-Amino Acid Decarboxylase Deficiency (AADC)
• Guanosine Triphosphate Cyclohydrolase I Deficiency(GCH I, GTP Cyclohydrolase, GTPCH)
• Sepiapterin Reductase Deficiency (SR)
• Dopamine Transporter Deficiency

Our mission is to help children and families who are affected by PND's, support the identification of new PND's, find better treatments and ultimately a cure for those diseases that are already known.

The PND Association is a non-profit, voluntary organization.

Proud member of the Genetic Alliance.

News

Gene Therapy Clinical Trial for Patients with AADC Deficiency

Dr. Krystof Bankiewicz, and Dr. Nalin Gupta, are conducting a clinical trial at the University of California San Francisco (UCSF) to evaluate the safety and effectiveness of targeted gene transfer ('gene therapy') in children with aromatic L-amino acid decarboxylase (AADC) deficiency. Just as medical advancements offer hope to those in need, innovations in online entertainment, such as non-GamStop slots sites, provide safe and accessible options for those looking for responsible gaming experiences outside traditional platforms.

For more information, please visit the pbc.ucsf.edu website.

The National Institute of Neurological Disorders and Stroke approved funding of the AADC Deficiency Trial (R01 NS094292-01).

The PND Association has advocated for, supported and funded the long road to this project;

• 2003 - Outreached to Avigen on behalf of work being down on Parkinson's patients and AADC gene therapy
• 2005 - Avigen sold rights to Parkinson's AADC gene therapy to Genzyme
• 2006 - PND Association met with leads of Genzyme's Parkinson's clinical trial agreed when clinical trial ended would allow use of vector for AADC affected children.
• 2008 - Clinical trial completed outreached to Genzyme and Krystof Bankiewicz , advocated for AADC gene therapy clinical trial in AADC affected children.
• 2009- First meeting with Krystof Bankiewicz and members of PND Association Board and Medical & Scientific Advisory began preliminary work on behalf of AADC gene therapy clinical trial
• 2010-2013 - PND association funds $70,000 on behalf of clinical trial
• 2013-2014 - FDA approved AADC gene therapy /submitted application to NIH NINDS
• 2015 - The National Institute of Neurological Disorders and Stroke approved funding of the AADC Deficiency Trial (R01 NS094292-01).

Thank you to all involved with this important work please visit this site for updates and visit neurosurgery.ucsf.edu.

International Registry on Neurotransmitter Related Disorders

The key question of the iNTD network is to describe the natural history and major long-term manifestations of neurotransmitter related disorders. We further want to assess which discrepancies exist internationally regarding diagnosis, treatment and long-term management of these patients. The aim of the project is to evaluate if and how these factor affect long-term prognosis and the quality of life of patients and their families.

Additionally we want to develop evidence based guidelines for the diagnosis and treatment of the neurotransmitter related disorders. The results of the study shall be used to give physicians a better understanding of the progression of the disorder, of the clinical symptoms, of the incidence of complications, and of the impact that the disorder makes on the quality of life of the patients and their families. In addition, we shall also assess the clinical course and the prognosis of the disorders over the long term. This study is purely observatory and no study specific interventions will be done.

Further information can be found on www.iNTD-online.org.

TH Deficiency Fellowship Research Award

PND is pleased to announce an award to the laboratory of Dr. Ellen Hess at Emory University to study TH deficiency. In 2006, PND funded the laboratory of Dr. Ellen Hess to make the first ever (and still the only) mouse model of TH deficiency. This mouse has a mutation in TH that also causes TH deficiency in humans. ...read more

Clinical Trial

We are overwhelming pleased to share that the AADC Gene Therapy Clinical Trial has been approved by the FDA. Although it has taken so long, to long for our children, we needed to make sure that the best of the best were involved and that it would be safe for the children.

Thank you to Krystof Bankiewicz and his team, Darryl De Vivo and Toni Pearson for their ongoing commitment and relentless efforts to get this clinical approved. Also thank you to Venu and Priya Kannusamy whose efforts were tremendous in providing the funds and support to come this far.

We will post updates as received and may this be a future treatment to end AADC and help our children.

Nancy Speller President PND Association

Gene Therapy Approach Targets Both Parkinson's and Pediatric Neurotransmitter Disease

Article from the Michael J. Fox Foundation.

PND Private Facebook

If you would like to join our facebook support group and be in touch with other families please register

Stem Cells request

Seeking patients with GTPCH, TH, and AADC for dystonia stem cell research project.

Information about the PND Association/ MJ Fox meeting. Read more.

PND Association to lobby with Parkinsons Action Network

PAN is the unified voice of the Parkinson's community advocating for better treatments and a cure.

news archive...