Neurogene Opens Natural History Study of CLN7, CLN5 Diseases at UT Southwestern

The goal of the study is to better understand the course of Batten disease and to determine clinically meaningful outcome measures for use in future gene therapy trials.

Aug 9, 2019 | By Ana Pena | Batten Disease News

Neurogene is sponsoring a natural history study to better understand the course of CLN5 and CLN7 disease, two forms of late-infantile Batten disease, and to find meaningful ways of measuring patient outcomes for use in gene therapy trials.

Batten Disease Study

The study is running as part of a collaboration between Neurogene and UT Southwestern Medical Center (UTSW).

“CLN7 and CLN5 are devastating and severe neurological diseases, and there are currently no treatments for them,” Berge Minassian, MD, division chief of child neurology at UT Southwestern Medical Center, said in a press release.

“Through this study, and thanks to those in the Batten disease community who choose to participate, we will soon know much more about how the disease affects those who suffer from it so that we may help the many children in need.”

Batten disease, also called neuronal ceroid lipofuscinoses (NCL), is a group of rare inherited neurological conditions caused by mutations that disturb a cell’s ability to get rid of waste products. This leads to a buildup of toxic deposits composed of fats and proteins, called lipofuscins, in tissues across the body, especially in nerve cells in the brain and cells of the eye, as well as in the skin and other tissues.

CLN5 and CLN7 are rare, pediatric-onset and rapidly progressive forms of the disease, caused by defects in the CLN5 and CLN7/MFSD8 genes, respectively.

These types of late infantile Batten disease are marked by seizures, progressive deterioration of motor skills and cognitive ability, loss of vision, and premature death.

The purpose of Neurogene’s natural history study (NCT03822650) is to investigate the clinical characteristics and natural progression of symptoms. It’s an observational study, which means no interventions will be made nor will any investigational therapy be given to participants.

The study expects to enroll 30 patients with genetically confirmed CLN5 or CLN7 disease, a mix of children and adults. Participants will undergo multiple assessments over time to address disease course, including electroencephalography or EEG, neuropsychological and ophthalmological evaluations, and brain MRI scans.

Its principal investigator is Saima Kayani, MD, a professor of pediatric neurology at UTSW. Enrollment is ongoing at UT Southwestern Medical Center in Dallas, and additional information is available here.

“Neurogene is committed to reimagining the future for people living with rare neurological diseases,” said Effie Albanis, MD, Neurogene’s chief medical officer. “This natural history study of CLN7 and CLN5 will be instrumental in designing a gene therapy to treat these rare forms of Batten disease.”

TRNDS 2019

University of Rochester
Saunders Research Building
Helen Wood Hall Auditorium
255 Crittenden Blvd
Rochester, NY 14642

Date: Friday, September 13
Time: 7:30 am – 4:00pm

TRNDS News

Sign-up for TRNDS updates and rare disease news

  • New Grants will Accelerate Clinical Trials in Rare Neurological Disorders
    READ MORE
  • Neurogene Offers Access to Genetic Testing for Lysosomal Storage Disease
    READ MORE
  • NIH launches 5-year, $10 million study on acute flaccid myelitis
    READ MORE
  • Study refines ALS risk among first-degree relatives of patients with disease
    READ MORE
  • NCATS Director Warns of 'Poorly Understood Public Health Implications of Rare Diseases'
    READ MORE
  • Speeding Up Drug Discovery for Brain Diseases
    READ MORE
  • NIH-Funded Project Aims to Build a ‘Google’ for Biomedical Data
    READ MORE
  • Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
    READ MORE
  • Jsyne Gershkowitz, Amicus Therapeutics, TRNDS 2019
    (Podcast) Get to know Jayne Gershkowitz, Chief Patient Advocate at Amicus Therapeutics
    READ MORE
  • PJ Brooks, NCATS, NIH, TRNDS
    Meet TRNDS 2019 Speaker PJ Brooks
    READ MORE
  • Rare Pediatric Disease PRVs: FDA Updates Guidance
    READ MORE
  • Batten Disease Study
    Neurogene Opens Natural History Study of CLN7, CLN5 Diseases at UT Southwestern
    READ MORE
  • C-Path and NORD Collaborate to Launch Rare Disease Data Platform
    READ MORE
  • TRNDS 2019 speaker Tauna Batiste, BDSRA
    Meet TRNDS Speaker Tauna Batiste
    READ MORE
  • HD Patients Prefer Less Invasive, No-Placebo Gene Therapy Trials
    READ MORE
  • Evidation & Eli Lilly Study Uses Apple Devices, Apps to Predict Cognitive Impairment
    READ MORE
  • 'Dr. Google' Helps Some Patients Diagnose a Rare Disease
    READ MORE
  • Antisense Drugs for HD, ALS & Prion Could Meet the Need for Brain Treatments
    READ MORE
  • Ultragenyx Partners with GeneTx to Advance Treatment for Angelman Syndrome
    READ MORE
  • Netflix's Medical Investigation Docuseries 'Diagnosis'
    READ MORE
  • NIH All of Us Project Tops 270,000 Sign-ups
    READ MORE
  • FDA Cancer Office Taps Syapse for Real-world Evidence Development
    READ MORE
  • Gene Linked to Rare Neurological Disorder May Play a Role in Alzheimer’s
    READ MORE
  • Gene Therapy Developers Issue Principles for Human Genome Editing
    Gene Therapy Developers Issue Principles for Human Genome Editing
    READ MORE
  • Forget Single Genes: CRISPR Now Cuts & Splices Whole Chromosomes
    READ MORE
  • Benjjamin Schlatka MC10 TRNDS
    TRNDS Speaker Benjamin Schlatka, MC10
    READ MORE
  • TRNDS Danielle Edwards Jett Foundation
    TRNDS Speaker Danielle Edwards, Jett Foundation
    READ MORE
  • His daughter has a rare disorder. He’s developing a novel gene therapy.
    READ MORE
  • A Doctor Tested a New Treatment on Himself, Now it's Saving Other Lives
    READ MORE
  • Study Presents Clinical, Genetic Landscape of Pompe Disease
    READ MORE

Latest Tweets

TRNDS Speakers

Room Block

Hilton Garden Inn
Rochester/University
Medical Center

30 Celebration Drive
Rochester, NY 14620

Phone: 585-424-4404

TRNDS Rate: $149/night