NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 17 Years
Max Age: N/A

Referral Letter Required


Population Exclusion(s)

Pregnant Women



Recruitment Keyword(s)




Investigational Drug(s)


Investigational Device(s)



Drug: Miglustat

Supporting Site

National Institute of Child Health and Human Development


Juvenile Batten (CLN3) disease is a rare genetic disease that presents during childhood. It mainly affects the nervous system and is fatal. There is no treatment that can slow, halt, or reverse the symptoms. Researchers want to find treatments for this disease.


To assess the safety and tolerability of the Batten-1 treatment for CLN3.


People aged 17 and older with syndromic CLN3 disease.


Participants will be screened with a medical history and physical exam.

Participants will receive the Batten-1 therapy for up to 2 years. They will take miglustat by mouth 1 to 3 times a day.

Participants will keep a seizure diary.

Participants will have study visits at NIH every 6 months. At visits, they may have the following tests:

Neurological exams to assess mental status, motor function, and sensory function

Electrocardiograms to assess heart function

Magnetic resonance imaging of the brain

Blood and urine tests

Lumbar puncture

Interview to measure personal and social skills (may be completed by their caregiver)

Symptom assessment

Eye exams to test visual acuity and visual fields. A slit-lamp test will evaluate the clearness of the eye and cataracts. Retinal thickness will be measured.

Participants will have telephone check-ins monthly or every other month.

Participants will have a final visit 30 days after treatment ends

--Back to Top--



Individuals who meet all of the following criteria are eligible to participate in the study.

1. Have provided informed consent by subject or parent/legal guardian/legally authorized representative (as appropriate)..

2. Are males or females >= 17 years of age at the time of screening

3.Have genetically confirmed diagnosis of syndromic CLN3 disease with EITHER:

A. Two pathogenic mutations in the CLN3 gene, OR

B. One confirmed pathogenic AND one variant of unknown significance, OR 2 variants of unknown significance, PLUS secondary confirmation with evidence of characteristic inclusions on electron microscopy

AND characteristic clinical course.

There is no restriction on the specific CLN3 mutations for eligibility to enroll in the study. The mutations will be recorded in the electronic case report form (eCRF) for potential use in determining if CLN3 genotype is associated with tolerability and/or effectiveness of Batten-1 therapy.

4. Male and female participants must use a highly effective method of contraception and must continue for the duration of the trial (and for 30 days after the end of treatment).

5. Are able to complete study assessments (subject or caregiver) and return to the clinic as scheduled


Individuals who meet any of the following criteria are not eligible to participate in the study.

1. Have a medical condition that in the opinion of the PI would interfere with the safety assessments or increase the subject s risk of AEs

2. Use of any therapy (approved, off-label, or unapproved) intended to modify the course of any neuronal ceroid lipofuscinosis disease, including but not limited to flupirtine or flupirtine derivatives, cerliponase alfa (Brineura)

3. Have, in the opinion of the PI, a clinically significant abnormality in their clinical laboratory values (hematology, chemistry, or urinalysis) at screening that would preclude their participation in the study

4. Have a known allergy or hypersensitivity to miglustat, or any component of the study drug

5. Have a severe renal disease (creatinine clearance < 30 ml/min/1.73 m2)

6. Have a history of substance abuse or alcohol abuse within 2 years before screening

7. Have a medical history of HIV, hepatitis B, hepatitis C, or positive results at screening

8. Have any active malignancy of any type except for non-melanoma skin cancer

9. Have a medical history of major mental illness that, in the opinion of the PI may affect the ability of the subject to participate in the study. Institutionalized subjects are not eligible for participation

10. Have received gene therapy intended to modify the course of CLN3 disease

11. Have been exposed to any miglustat or investigational agent, including but not limited to, flupirtine or flupirtine derivatives, within 30 days or 5 half-lives (whichever is longer) prior to check-in for the Week 1 visit, or is scheduled to receive an investigational device or drug (other than test product) during the course of the study

12. Participation in another interventional study during the last three months before screening

--Back to Top--


Somogyi A, Petcherski A, Beckert B, Huebecker M, Priestman DA, Banning A, Cotman SL, Platt FM, Ruonala MO, Tikkanen R. Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. Int J Mol Sci. 2018 Feb 22;19(2):625. doi: 10.3390/ijms19020625. PMID: 29470438; PMCID: PMC5855847.

Palmieri M, Pal R, Nelvagal HR, Lotfi P, Stinnett GR, Seymour ML, Chaudhury A, Bajaj L, Bondar VV, Bremner L, Saleem U, Tse DY, Sanagasetti D, Wu SM, Neilson JR, Pereira FA, Pautler RG, Rodney GG, Cooper JD, Sardiello M. mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun. 2017 Feb 6;8:14338. doi: 10.1038/ncomms14338. Erratum in: Nat Commun. 2017 Jun 13;8:15793. PMID: 28165011; PMCID: PMC5303831.

--Back to Top--


Principal Investigator

Referral Contact

For more information:

An N. Dang Do, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 1-3342
(301) 496-8849

An N. Dang Do, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 1-3342
(301) 496-8849

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


--Back to Top--