CDKL5 News and Research

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Investigating how gut microbiota affect neuroplasticity and neurodevelopment

In a recent study published in the journal Neuropharmacology, researchers in Pisa, Italy, explored how gut microbiota can influence neuroplasticity.

20 Mar 2023

$4 million program launched to find transformative therapies for ADNP syndrome

Researchers at the UC Davis MIND Institute are launching a $4 million program to find transformative therapies for ADNP syndrome. The rare genetic condition causes developmental delays and can affect the brain, heart, gastrointestinal system and more.

29 Mar 2022

Devastating genetic disease in children may be treatable in adulthood

A devastating genetic disease called CDKL5 deficiency disorder (CDD), which strikes in early childhood, may be significantly treatable even in adulthood, a new study from the Perelman School of Medicine at the University of Pennsylvania suggests.

15 Oct 2021

Loulou Foundation and IFCR release 'CDKL5 Deficiency Disorder Voice of the Patient Report'

Understanding the patient voice is fundamental for therapy development. Companies need to ensure that what matters most to patients is being assessed, and regulators and payers asks for demonstration of value to support approval and reimbursement.

18 Jun 2020

Recognizing CDKL5 Deficiency Disorder

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder.

17 Mar 2020

CDKL5 Deficiency Disorder designated with new disease code in WHO medical classification list

The rare genetic disease CDKL5 Deficiency Disorder has been designated with a new disease code in the International Classification of Diseases, the medical classification list from the World Health Organization.

28 Jan 2020

New collaborative effort focuses on therapeutic research for CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder is a devastating neurodevelopmental disorder caused by mutations in the CDKL5 gene.

30 Oct 2019

Rare genetic disorder more common than previously thought, report shows

Approximately one in forty-two thousand children are born with a disease called CDKL5 Deficiency Disorder, according to a new medical report recently published in the journal Brain and presented last month at the 13th European Pediatric Neurology Society Congress in Athens, Greece.

4 Oct 2019

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Autism and other neurodevelopmental disorders often aren't diagnosed until a child is a few years of age, when behavioral interventions and speech/occupational therapy become less effective.

24 Jul 2019

Researchers discover protein responsible for X chromosome inactivation

Researchers have discovered that the structural protein SMCHD1 is required to prevent genes from both X chromosomes being expressed in female mammals.

7 Jun 2018

MGH study points toward potential strategy for treating X-linked disorders

A study from a team of Massachusetts General Hospital (MGH) investigators points toward a potential strategy for treating X-linked disorders - those caused by mutations in the X chromosome - in females.

4 Jan 2018

Collaborative effort to develop rare disease patient registries

The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania will collaborate with Pulse Infoframe Inc., a medical informatics company, to develop rare disease patient registries aimed at enabling international collaboration to better understand these diseases, as well as accelerate and improve clinical studies to develop new therapies.

31 May 2017

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

5 Jul 2016

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

8 Feb 2016

IRSF awards $1.5M in research grants for Rett syndrome treatment

The International Rett Syndrome Foundation (IRSF) announced today that it will award an additional $1.5M in research grants, bringing the 2010 total to $2.15 million for innovative basic and translational research that moves treatments for Rett syndrome a step closer to the clinic.

4 Oct 2010